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Misu Lee Institute of Pathology, Department of Pharmacology and Toxicology, Departments of Neurosurgery, Medicine, Department of Neuropathology, Department of Neurosurgery, Institute of Pathology, Helmholtz Zentrum München, D-85764 Neuherberg, Germany

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Amelie Lupp Institute of Pathology, Department of Pharmacology and Toxicology, Departments of Neurosurgery, Medicine, Department of Neuropathology, Department of Neurosurgery, Institute of Pathology, Helmholtz Zentrum München, D-85764 Neuherberg, Germany

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Nigel Mendoza Institute of Pathology, Department of Pharmacology and Toxicology, Departments of Neurosurgery, Medicine, Department of Neuropathology, Department of Neurosurgery, Institute of Pathology, Helmholtz Zentrum München, D-85764 Neuherberg, Germany

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Niamh Martin Institute of Pathology, Department of Pharmacology and Toxicology, Departments of Neurosurgery, Medicine, Department of Neuropathology, Department of Neurosurgery, Institute of Pathology, Helmholtz Zentrum München, D-85764 Neuherberg, Germany

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Rudi Beschorner Institute of Pathology, Department of Pharmacology and Toxicology, Departments of Neurosurgery, Medicine, Department of Neuropathology, Department of Neurosurgery, Institute of Pathology, Helmholtz Zentrum München, D-85764 Neuherberg, Germany

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Jürgen Honegger Institute of Pathology, Department of Pharmacology and Toxicology, Departments of Neurosurgery, Medicine, Department of Neuropathology, Department of Neurosurgery, Institute of Pathology, Helmholtz Zentrum München, D-85764 Neuherberg, Germany

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Jürgen Schlegel Institute of Pathology, Department of Pharmacology and Toxicology, Departments of Neurosurgery, Medicine, Department of Neuropathology, Department of Neurosurgery, Institute of Pathology, Helmholtz Zentrum München, D-85764 Neuherberg, Germany

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Talia Shively Institute of Pathology, Department of Pharmacology and Toxicology, Departments of Neurosurgery, Medicine, Department of Neuropathology, Department of Neurosurgery, Institute of Pathology, Helmholtz Zentrum München, D-85764 Neuherberg, Germany

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Elke Pulz Institute of Pathology, Department of Pharmacology and Toxicology, Departments of Neurosurgery, Medicine, Department of Neuropathology, Department of Neurosurgery, Institute of Pathology, Helmholtz Zentrum München, D-85764 Neuherberg, Germany

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Stefan Schulz Institute of Pathology, Department of Pharmacology and Toxicology, Departments of Neurosurgery, Medicine, Department of Neuropathology, Department of Neurosurgery, Institute of Pathology, Helmholtz Zentrum München, D-85764 Neuherberg, Germany

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Federico Roncaroli Institute of Pathology, Department of Pharmacology and Toxicology, Departments of Neurosurgery, Medicine, Department of Neuropathology, Department of Neurosurgery, Institute of Pathology, Helmholtz Zentrum München, D-85764 Neuherberg, Germany

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Natalia S Pellegata Institute of Pathology, Department of Pharmacology and Toxicology, Departments of Neurosurgery, Medicine, Department of Neuropathology, Department of Neurosurgery, Institute of Pathology, Helmholtz Zentrum München, D-85764 Neuherberg, Germany

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Gonadotroph pituitary adenomas (GPAs) often present as invasive macroadenomas not amenable to complete surgical resection. Radiotherapy is the only post-operative option for patients with large invasive or recurrent lesions. No medical treatment is available for these patients. The somatostatin analogs (SSAs) octreotide and lanreotide that preferentially target somatostatin receptor type 2 (SSTR2) have little effect on GPAs. It is widely accepted that the expression of specific SSTR subtypes determines the response to SSAs. Given that previous studies on mRNA and protein expression of SSTRs in GPAs have generated conflicting results, we investigated the expression of SSTR2, SSTR3, and SSTR5 (the main targets of available SSAs) in a clinically and pathologically well-characterized cohort of 108 patients with GPAs. A total of 118 samples were examined by immunohistochemistry using validated and specific MABs. Matched primary and recurrent tissues were available for ten patients. The results obtained were validated in an independent cohort of 27 GPAs. We observed that SSTR3 was significantly more abundant than SSTR2 (P<0.0001) in GPAs, while full-length SSTR5 was only expressed in few tumors. Expression of SSTR3 was similar in primary and recurrent adenomas, was high in potentially aggressive lesions, and did not change significantly in adenomas that recurred after irradiation. In conclusion, low levels of expression of SSTR2 may account for the limited response of GPAs to octreotide and lanreotide. Given the potent anti-proliferative, pro-apoptotic, and anti-angiogenic activities of SSTR3, targeting this receptor with a multireceptor ligand SSA such as pasireotide may be indicated for potentially aggressive GPAs.

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Misu Lee Institute for Diabetes and Cancer, Helmholtz Zentrum München, Neuherberg, Germany

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Ninelia Minaskan Institute for Diabetes and Cancer, Helmholtz Zentrum München, Neuherberg, Germany

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Tobias Wiedemann Institute for Diabetes and Cancer, Helmholtz Zentrum München, Neuherberg, Germany

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Martin Irmler Institute of Experimental Genetics, Helmholtz Zentrum München, Neuherberg, Germany

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Johannes Beckers Institute of Experimental Genetics, Helmholtz Zentrum München, Neuherberg, Germany
German Center for Diabetes Research (DZD), Neuherberg, Germany
Technische Universität München, Chair of Experimental Genetics, Freising, Germany

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Behrooz H Yousefi Department of Pharmaceutical Radiochemistry, Technische Universität München, Garching, Germany

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Georgios Kaissis Institute for Diagnostic and Interventional Radiology, Klinikum rechts der Isar der Technische Universität München, Munich, Germany

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Rickmer Braren Institute for Diagnostic and Interventional Radiology, Klinikum rechts der Isar der Technische Universität München, Munich, Germany

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Iina Laitinen Department of Nuclear Medicine, Klinikum rechts der Isar der Technische Universität München, Munich, Germany

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Natalia S Pellegata Institute for Diabetes and Cancer, Helmholtz Zentrum München, Neuherberg, Germany

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Pheochromocytomas (PCCs) are mostly benign tumors, amenable to complete surgical resection. However, 10–17% of cases can become malignant, and once metastasized, there is no curative treatment for this disease. Given the need to identify the effective therapeutic approaches for PCC, we evaluated the antitumor potential of the dual-PI3K/mTOR inhibitor BEZ235 against these tumors. We employed an in vivo model of endogenous PCCs (MENX mutant rats), which closely recapitulate the human tumors. Mutant rats with PCCs were treated with 2 doses of BEZ235 (20 and 30 mg/kg), or with placebo, for 2 weeks. Treatment with BEZ235 induced cytostatic and cytotoxic effects on rat PCCs, which could be appreciated by both staining the tumors ex vivo with appropriate markers and non-invasively by functional imaging (diffusion-weighted magnetic resonance imaging) in vivo. Transcriptomic analyses of tumors from rats treated with BEZ235 or placebo-identified potential mediators of therapy response were performed. Slc6a2, encoding the norepinephrine transporter (NET), was downregulated in a dose-dependent manner by BEZ235 in rat PCCs. Moreover, BEZ235 reduced Slc6a2/NET expression in PCC cell lines (MPC) also. Studies of a BEZ235-resistant derivative of the MPC cell line confirmed that the reduction of NET expression associates with the response to the drug. Reduction of NET expression after BEZ235 treatment in vivo could be monitored by positron emission tomography (PET) using a tracer targeting NET. Altogether, here we demonstrate the efficacy of BEZ235 against PCC in vivo, and show that functional imaging can be employed to monitor the response of PCC to PI3K/mTOR inhibition therapy.

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Tomoko Sekiya Endocrine Genetics Unit LIM-25, Neuroendocrinology Unit, Adrenal Unit (LIM-42), Experimental Oncology Laboratory (LIM-24), Nursing School, School of Public Health, Endocrinology Division, Brigadeiro Hospital, Federal University of Sao Paulo, Human Genome Research Center, Department of Cell and Developmental Biology, Instituto do Cérebro, National Institute of Aging, Institute of Pathology, School of Medicine, Hospital das Clinicas, University of Sao Paulo, Sao Paulo, Brazil

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Marcello D Bronstein Endocrine Genetics Unit LIM-25, Neuroendocrinology Unit, Adrenal Unit (LIM-42), Experimental Oncology Laboratory (LIM-24), Nursing School, School of Public Health, Endocrinology Division, Brigadeiro Hospital, Federal University of Sao Paulo, Human Genome Research Center, Department of Cell and Developmental Biology, Instituto do Cérebro, National Institute of Aging, Institute of Pathology, School of Medicine, Hospital das Clinicas, University of Sao Paulo, Sao Paulo, Brazil

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Katiuscia Benfini Endocrine Genetics Unit LIM-25, Neuroendocrinology Unit, Adrenal Unit (LIM-42), Experimental Oncology Laboratory (LIM-24), Nursing School, School of Public Health, Endocrinology Division, Brigadeiro Hospital, Federal University of Sao Paulo, Human Genome Research Center, Department of Cell and Developmental Biology, Instituto do Cérebro, National Institute of Aging, Institute of Pathology, School of Medicine, Hospital das Clinicas, University of Sao Paulo, Sao Paulo, Brazil

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Viviane C Longuini Endocrine Genetics Unit LIM-25, Neuroendocrinology Unit, Adrenal Unit (LIM-42), Experimental Oncology Laboratory (LIM-24), Nursing School, School of Public Health, Endocrinology Division, Brigadeiro Hospital, Federal University of Sao Paulo, Human Genome Research Center, Department of Cell and Developmental Biology, Instituto do Cérebro, National Institute of Aging, Institute of Pathology, School of Medicine, Hospital das Clinicas, University of Sao Paulo, Sao Paulo, Brazil

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Raquel S Jallad Endocrine Genetics Unit LIM-25, Neuroendocrinology Unit, Adrenal Unit (LIM-42), Experimental Oncology Laboratory (LIM-24), Nursing School, School of Public Health, Endocrinology Division, Brigadeiro Hospital, Federal University of Sao Paulo, Human Genome Research Center, Department of Cell and Developmental Biology, Instituto do Cérebro, National Institute of Aging, Institute of Pathology, School of Medicine, Hospital das Clinicas, University of Sao Paulo, Sao Paulo, Brazil

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Marcio C Machado Endocrine Genetics Unit LIM-25, Neuroendocrinology Unit, Adrenal Unit (LIM-42), Experimental Oncology Laboratory (LIM-24), Nursing School, School of Public Health, Endocrinology Division, Brigadeiro Hospital, Federal University of Sao Paulo, Human Genome Research Center, Department of Cell and Developmental Biology, Instituto do Cérebro, National Institute of Aging, Institute of Pathology, School of Medicine, Hospital das Clinicas, University of Sao Paulo, Sao Paulo, Brazil

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Tatiana D Goncalves Endocrine Genetics Unit LIM-25, Neuroendocrinology Unit, Adrenal Unit (LIM-42), Experimental Oncology Laboratory (LIM-24), Nursing School, School of Public Health, Endocrinology Division, Brigadeiro Hospital, Federal University of Sao Paulo, Human Genome Research Center, Department of Cell and Developmental Biology, Instituto do Cérebro, National Institute of Aging, Institute of Pathology, School of Medicine, Hospital das Clinicas, University of Sao Paulo, Sao Paulo, Brazil

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Luciana H Osaki Endocrine Genetics Unit LIM-25, Neuroendocrinology Unit, Adrenal Unit (LIM-42), Experimental Oncology Laboratory (LIM-24), Nursing School, School of Public Health, Endocrinology Division, Brigadeiro Hospital, Federal University of Sao Paulo, Human Genome Research Center, Department of Cell and Developmental Biology, Instituto do Cérebro, National Institute of Aging, Institute of Pathology, School of Medicine, Hospital das Clinicas, University of Sao Paulo, Sao Paulo, Brazil

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Leonardo Higashi Endocrine Genetics Unit LIM-25, Neuroendocrinology Unit, Adrenal Unit (LIM-42), Experimental Oncology Laboratory (LIM-24), Nursing School, School of Public Health, Endocrinology Division, Brigadeiro Hospital, Federal University of Sao Paulo, Human Genome Research Center, Department of Cell and Developmental Biology, Instituto do Cérebro, National Institute of Aging, Institute of Pathology, School of Medicine, Hospital das Clinicas, University of Sao Paulo, Sao Paulo, Brazil

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Jose Viana-Jr Endocrine Genetics Unit LIM-25, Neuroendocrinology Unit, Adrenal Unit (LIM-42), Experimental Oncology Laboratory (LIM-24), Nursing School, School of Public Health, Endocrinology Division, Brigadeiro Hospital, Federal University of Sao Paulo, Human Genome Research Center, Department of Cell and Developmental Biology, Instituto do Cérebro, National Institute of Aging, Institute of Pathology, School of Medicine, Hospital das Clinicas, University of Sao Paulo, Sao Paulo, Brazil
Endocrine Genetics Unit LIM-25, Neuroendocrinology Unit, Adrenal Unit (LIM-42), Experimental Oncology Laboratory (LIM-24), Nursing School, School of Public Health, Endocrinology Division, Brigadeiro Hospital, Federal University of Sao Paulo, Human Genome Research Center, Department of Cell and Developmental Biology, Instituto do Cérebro, National Institute of Aging, Institute of Pathology, School of Medicine, Hospital das Clinicas, University of Sao Paulo, Sao Paulo, Brazil

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Claudio Kater Endocrine Genetics Unit LIM-25, Neuroendocrinology Unit, Adrenal Unit (LIM-42), Experimental Oncology Laboratory (LIM-24), Nursing School, School of Public Health, Endocrinology Division, Brigadeiro Hospital, Federal University of Sao Paulo, Human Genome Research Center, Department of Cell and Developmental Biology, Instituto do Cérebro, National Institute of Aging, Institute of Pathology, School of Medicine, Hospital das Clinicas, University of Sao Paulo, Sao Paulo, Brazil

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Misu Lee Endocrine Genetics Unit LIM-25, Neuroendocrinology Unit, Adrenal Unit (LIM-42), Experimental Oncology Laboratory (LIM-24), Nursing School, School of Public Health, Endocrinology Division, Brigadeiro Hospital, Federal University of Sao Paulo, Human Genome Research Center, Department of Cell and Developmental Biology, Instituto do Cérebro, National Institute of Aging, Institute of Pathology, School of Medicine, Hospital das Clinicas, University of Sao Paulo, Sao Paulo, Brazil

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Sara Molatore Endocrine Genetics Unit LIM-25, Neuroendocrinology Unit, Adrenal Unit (LIM-42), Experimental Oncology Laboratory (LIM-24), Nursing School, School of Public Health, Endocrinology Division, Brigadeiro Hospital, Federal University of Sao Paulo, Human Genome Research Center, Department of Cell and Developmental Biology, Instituto do Cérebro, National Institute of Aging, Institute of Pathology, School of Medicine, Hospital das Clinicas, University of Sao Paulo, Sao Paulo, Brazil

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Guilherme Francisco Endocrine Genetics Unit LIM-25, Neuroendocrinology Unit, Adrenal Unit (LIM-42), Experimental Oncology Laboratory (LIM-24), Nursing School, School of Public Health, Endocrinology Division, Brigadeiro Hospital, Federal University of Sao Paulo, Human Genome Research Center, Department of Cell and Developmental Biology, Instituto do Cérebro, National Institute of Aging, Institute of Pathology, School of Medicine, Hospital das Clinicas, University of Sao Paulo, Sao Paulo, Brazil

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Roger Chammas Endocrine Genetics Unit LIM-25, Neuroendocrinology Unit, Adrenal Unit (LIM-42), Experimental Oncology Laboratory (LIM-24), Nursing School, School of Public Health, Endocrinology Division, Brigadeiro Hospital, Federal University of Sao Paulo, Human Genome Research Center, Department of Cell and Developmental Biology, Instituto do Cérebro, National Institute of Aging, Institute of Pathology, School of Medicine, Hospital das Clinicas, University of Sao Paulo, Sao Paulo, Brazil

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Michel S Naslavsky Endocrine Genetics Unit LIM-25, Neuroendocrinology Unit, Adrenal Unit (LIM-42), Experimental Oncology Laboratory (LIM-24), Nursing School, School of Public Health, Endocrinology Division, Brigadeiro Hospital, Federal University of Sao Paulo, Human Genome Research Center, Department of Cell and Developmental Biology, Instituto do Cérebro, National Institute of Aging, Institute of Pathology, School of Medicine, Hospital das Clinicas, University of Sao Paulo, Sao Paulo, Brazil

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David Schlesinger Endocrine Genetics Unit LIM-25, Neuroendocrinology Unit, Adrenal Unit (LIM-42), Experimental Oncology Laboratory (LIM-24), Nursing School, School of Public Health, Endocrinology Division, Brigadeiro Hospital, Federal University of Sao Paulo, Human Genome Research Center, Department of Cell and Developmental Biology, Instituto do Cérebro, National Institute of Aging, Institute of Pathology, School of Medicine, Hospital das Clinicas, University of Sao Paulo, Sao Paulo, Brazil
Endocrine Genetics Unit LIM-25, Neuroendocrinology Unit, Adrenal Unit (LIM-42), Experimental Oncology Laboratory (LIM-24), Nursing School, School of Public Health, Endocrinology Division, Brigadeiro Hospital, Federal University of Sao Paulo, Human Genome Research Center, Department of Cell and Developmental Biology, Instituto do Cérebro, National Institute of Aging, Institute of Pathology, School of Medicine, Hospital das Clinicas, University of Sao Paulo, Sao Paulo, Brazil

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Patricia Gama Endocrine Genetics Unit LIM-25, Neuroendocrinology Unit, Adrenal Unit (LIM-42), Experimental Oncology Laboratory (LIM-24), Nursing School, School of Public Health, Endocrinology Division, Brigadeiro Hospital, Federal University of Sao Paulo, Human Genome Research Center, Department of Cell and Developmental Biology, Instituto do Cérebro, National Institute of Aging, Institute of Pathology, School of Medicine, Hospital das Clinicas, University of Sao Paulo, Sao Paulo, Brazil

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Yeda A O Duarte Endocrine Genetics Unit LIM-25, Neuroendocrinology Unit, Adrenal Unit (LIM-42), Experimental Oncology Laboratory (LIM-24), Nursing School, School of Public Health, Endocrinology Division, Brigadeiro Hospital, Federal University of Sao Paulo, Human Genome Research Center, Department of Cell and Developmental Biology, Instituto do Cérebro, National Institute of Aging, Institute of Pathology, School of Medicine, Hospital das Clinicas, University of Sao Paulo, Sao Paulo, Brazil

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Maria Lucia Lebrão Endocrine Genetics Unit LIM-25, Neuroendocrinology Unit, Adrenal Unit (LIM-42), Experimental Oncology Laboratory (LIM-24), Nursing School, School of Public Health, Endocrinology Division, Brigadeiro Hospital, Federal University of Sao Paulo, Human Genome Research Center, Department of Cell and Developmental Biology, Instituto do Cérebro, National Institute of Aging, Institute of Pathology, School of Medicine, Hospital das Clinicas, University of Sao Paulo, Sao Paulo, Brazil

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Mayana Zatz Endocrine Genetics Unit LIM-25, Neuroendocrinology Unit, Adrenal Unit (LIM-42), Experimental Oncology Laboratory (LIM-24), Nursing School, School of Public Health, Endocrinology Division, Brigadeiro Hospital, Federal University of Sao Paulo, Human Genome Research Center, Department of Cell and Developmental Biology, Instituto do Cérebro, National Institute of Aging, Institute of Pathology, School of Medicine, Hospital das Clinicas, University of Sao Paulo, Sao Paulo, Brazil

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Osorio Meirelles Endocrine Genetics Unit LIM-25, Neuroendocrinology Unit, Adrenal Unit (LIM-42), Experimental Oncology Laboratory (LIM-24), Nursing School, School of Public Health, Endocrinology Division, Brigadeiro Hospital, Federal University of Sao Paulo, Human Genome Research Center, Department of Cell and Developmental Biology, Instituto do Cérebro, National Institute of Aging, Institute of Pathology, School of Medicine, Hospital das Clinicas, University of Sao Paulo, Sao Paulo, Brazil

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Bernardo Liberman Endocrine Genetics Unit LIM-25, Neuroendocrinology Unit, Adrenal Unit (LIM-42), Experimental Oncology Laboratory (LIM-24), Nursing School, School of Public Health, Endocrinology Division, Brigadeiro Hospital, Federal University of Sao Paulo, Human Genome Research Center, Department of Cell and Developmental Biology, Instituto do Cérebro, National Institute of Aging, Institute of Pathology, School of Medicine, Hospital das Clinicas, University of Sao Paulo, Sao Paulo, Brazil

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Maria Candida B V Fragoso Endocrine Genetics Unit LIM-25, Neuroendocrinology Unit, Adrenal Unit (LIM-42), Experimental Oncology Laboratory (LIM-24), Nursing School, School of Public Health, Endocrinology Division, Brigadeiro Hospital, Federal University of Sao Paulo, Human Genome Research Center, Department of Cell and Developmental Biology, Instituto do Cérebro, National Institute of Aging, Institute of Pathology, School of Medicine, Hospital das Clinicas, University of Sao Paulo, Sao Paulo, Brazil

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Sergio P A Toledo Endocrine Genetics Unit LIM-25, Neuroendocrinology Unit, Adrenal Unit (LIM-42), Experimental Oncology Laboratory (LIM-24), Nursing School, School of Public Health, Endocrinology Division, Brigadeiro Hospital, Federal University of Sao Paulo, Human Genome Research Center, Department of Cell and Developmental Biology, Instituto do Cérebro, National Institute of Aging, Institute of Pathology, School of Medicine, Hospital das Clinicas, University of Sao Paulo, Sao Paulo, Brazil

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Natalia S Pellegata Endocrine Genetics Unit LIM-25, Neuroendocrinology Unit, Adrenal Unit (LIM-42), Experimental Oncology Laboratory (LIM-24), Nursing School, School of Public Health, Endocrinology Division, Brigadeiro Hospital, Federal University of Sao Paulo, Human Genome Research Center, Department of Cell and Developmental Biology, Instituto do Cérebro, National Institute of Aging, Institute of Pathology, School of Medicine, Hospital das Clinicas, University of Sao Paulo, Sao Paulo, Brazil

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Rodrigo A Toledo Endocrine Genetics Unit LIM-25, Neuroendocrinology Unit, Adrenal Unit (LIM-42), Experimental Oncology Laboratory (LIM-24), Nursing School, School of Public Health, Endocrinology Division, Brigadeiro Hospital, Federal University of Sao Paulo, Human Genome Research Center, Department of Cell and Developmental Biology, Instituto do Cérebro, National Institute of Aging, Institute of Pathology, School of Medicine, Hospital das Clinicas, University of Sao Paulo, Sao Paulo, Brazil

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Abstract

Germline mutations in p27 kip1 are associated with increased susceptibility to multiple endocrine neoplasias (MEN) both in rats and humans; however, the potential role of common polymorphisms of this gene in endocrine tumor susceptibility and tumorigenesis remains mostly unrecognized. To assess the risk associated with polymorphism rs2066827 (p27-V109G), we genotyped a large cohort of Brazilian patients with sporadic endocrine tumors (pituitary adenomas, n=252; pheochromocytomas, n=125; medullary thyroid carcinoma, n=51; and parathyroid adenomas, n=19) and 885 population-matched healthy controls and determined the odds ratios and 95% CIs. Significant associations were found for the group of patients with pituitary adenomas (P=0.01), particularly for those with ACTH-secreting pituitary adenomas (P=0.005). In contrast, no association was found with GH-secreting pituitary tumors alone or with the sporadic counterpart of MEN2-component neoplasias. Our in vitro analyses revealed increased colony formation and cell growth rate for an AtT20 corticotropin mouse cell line overexpressing the p27-V109G variant compared with cells transfected with the WT p27. However, the genotypic effects in genetic and in vitro approaches were divergent. In accordance with our genetic data showing specificity for ACTH-secreting pituitary tissues, the overexpression of p27-V109G in a GH3 somatotropin rat cell line resulted in no difference compared with the WT. Pituitary tumors are one of the major clinical components of syndromes associated with the p27 pathogenic mutations MENX and MEN4. Our genetic and in vitro data indicate that the common polymorphism rs2066827 may play a role in corticotropinoma susceptibility and tumorigenesis through a molecular mechanism not fully understood thus far.

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Maria A Tichomirowa Departments of, Endocrinology, Molecular Genetics, Institute of Pathology, Laboratory of Biochemistry and Molecular Biology, CRN2M, Department of Experimental Medicine, Neuromed, Division of Endocrinology, Department of Endocrinology, Group for Advanced Molecular Investigation, Service d'Endocrinologie, Department of Endocrinology, Unit of Endocrinology, Department of Endocrinology, Department of Endocrinology, Clinical Center of Endocrinology and Gerontology, Faculty of Medicine, Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Internal Medicine and Endocrinology, Department of Endocrinology, Service d'Endocrinologie, Centre Hospitalier Universitaire de Liège, Domaine Universitaire du Sart‐Tilman, University of Liège, 4000 Liège, Belgium

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Misu Lee Departments of, Endocrinology, Molecular Genetics, Institute of Pathology, Laboratory of Biochemistry and Molecular Biology, CRN2M, Department of Experimental Medicine, Neuromed, Division of Endocrinology, Department of Endocrinology, Group for Advanced Molecular Investigation, Service d'Endocrinologie, Department of Endocrinology, Unit of Endocrinology, Department of Endocrinology, Department of Endocrinology, Clinical Center of Endocrinology and Gerontology, Faculty of Medicine, Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Internal Medicine and Endocrinology, Department of Endocrinology, Service d'Endocrinologie, Centre Hospitalier Universitaire de Liège, Domaine Universitaire du Sart‐Tilman, University of Liège, 4000 Liège, Belgium

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Anne Barlier Departments of, Endocrinology, Molecular Genetics, Institute of Pathology, Laboratory of Biochemistry and Molecular Biology, CRN2M, Department of Experimental Medicine, Neuromed, Division of Endocrinology, Department of Endocrinology, Group for Advanced Molecular Investigation, Service d'Endocrinologie, Department of Endocrinology, Unit of Endocrinology, Department of Endocrinology, Department of Endocrinology, Clinical Center of Endocrinology and Gerontology, Faculty of Medicine, Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Internal Medicine and Endocrinology, Department of Endocrinology, Service d'Endocrinologie, Centre Hospitalier Universitaire de Liège, Domaine Universitaire du Sart‐Tilman, University of Liège, 4000 Liège, Belgium
Departments of, Endocrinology, Molecular Genetics, Institute of Pathology, Laboratory of Biochemistry and Molecular Biology, CRN2M, Department of Experimental Medicine, Neuromed, Division of Endocrinology, Department of Endocrinology, Group for Advanced Molecular Investigation, Service d'Endocrinologie, Department of Endocrinology, Unit of Endocrinology, Department of Endocrinology, Department of Endocrinology, Clinical Center of Endocrinology and Gerontology, Faculty of Medicine, Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Internal Medicine and Endocrinology, Department of Endocrinology, Service d'Endocrinologie, Centre Hospitalier Universitaire de Liège, Domaine Universitaire du Sart‐Tilman, University of Liège, 4000 Liège, Belgium

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Adrian F Daly Departments of, Endocrinology, Molecular Genetics, Institute of Pathology, Laboratory of Biochemistry and Molecular Biology, CRN2M, Department of Experimental Medicine, Neuromed, Division of Endocrinology, Department of Endocrinology, Group for Advanced Molecular Investigation, Service d'Endocrinologie, Department of Endocrinology, Unit of Endocrinology, Department of Endocrinology, Department of Endocrinology, Clinical Center of Endocrinology and Gerontology, Faculty of Medicine, Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Internal Medicine and Endocrinology, Department of Endocrinology, Service d'Endocrinologie, Centre Hospitalier Universitaire de Liège, Domaine Universitaire du Sart‐Tilman, University of Liège, 4000 Liège, Belgium

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Ilaria Marinoni Departments of, Endocrinology, Molecular Genetics, Institute of Pathology, Laboratory of Biochemistry and Molecular Biology, CRN2M, Department of Experimental Medicine, Neuromed, Division of Endocrinology, Department of Endocrinology, Group for Advanced Molecular Investigation, Service d'Endocrinologie, Department of Endocrinology, Unit of Endocrinology, Department of Endocrinology, Department of Endocrinology, Clinical Center of Endocrinology and Gerontology, Faculty of Medicine, Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Internal Medicine and Endocrinology, Department of Endocrinology, Service d'Endocrinologie, Centre Hospitalier Universitaire de Liège, Domaine Universitaire du Sart‐Tilman, University of Liège, 4000 Liège, Belgium

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Marie-Lise Jaffrain-Rea Departments of, Endocrinology, Molecular Genetics, Institute of Pathology, Laboratory of Biochemistry and Molecular Biology, CRN2M, Department of Experimental Medicine, Neuromed, Division of Endocrinology, Department of Endocrinology, Group for Advanced Molecular Investigation, Service d'Endocrinologie, Department of Endocrinology, Unit of Endocrinology, Department of Endocrinology, Department of Endocrinology, Clinical Center of Endocrinology and Gerontology, Faculty of Medicine, Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Internal Medicine and Endocrinology, Department of Endocrinology, Service d'Endocrinologie, Centre Hospitalier Universitaire de Liège, Domaine Universitaire du Sart‐Tilman, University of Liège, 4000 Liège, Belgium
Departments of, Endocrinology, Molecular Genetics, Institute of Pathology, Laboratory of Biochemistry and Molecular Biology, CRN2M, Department of Experimental Medicine, Neuromed, Division of Endocrinology, Department of Endocrinology, Group for Advanced Molecular Investigation, Service d'Endocrinologie, Department of Endocrinology, Unit of Endocrinology, Department of Endocrinology, Department of Endocrinology, Clinical Center of Endocrinology and Gerontology, Faculty of Medicine, Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Internal Medicine and Endocrinology, Department of Endocrinology, Service d'Endocrinologie, Centre Hospitalier Universitaire de Liège, Domaine Universitaire du Sart‐Tilman, University of Liège, 4000 Liège, Belgium

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Luciana A Naves Departments of, Endocrinology, Molecular Genetics, Institute of Pathology, Laboratory of Biochemistry and Molecular Biology, CRN2M, Department of Experimental Medicine, Neuromed, Division of Endocrinology, Department of Endocrinology, Group for Advanced Molecular Investigation, Service d'Endocrinologie, Department of Endocrinology, Unit of Endocrinology, Department of Endocrinology, Department of Endocrinology, Clinical Center of Endocrinology and Gerontology, Faculty of Medicine, Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Internal Medicine and Endocrinology, Department of Endocrinology, Service d'Endocrinologie, Centre Hospitalier Universitaire de Liège, Domaine Universitaire du Sart‐Tilman, University of Liège, 4000 Liège, Belgium

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Patrice Rodien Departments of, Endocrinology, Molecular Genetics, Institute of Pathology, Laboratory of Biochemistry and Molecular Biology, CRN2M, Department of Experimental Medicine, Neuromed, Division of Endocrinology, Department of Endocrinology, Group for Advanced Molecular Investigation, Service d'Endocrinologie, Department of Endocrinology, Unit of Endocrinology, Department of Endocrinology, Department of Endocrinology, Clinical Center of Endocrinology and Gerontology, Faculty of Medicine, Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Internal Medicine and Endocrinology, Department of Endocrinology, Service d'Endocrinologie, Centre Hospitalier Universitaire de Liège, Domaine Universitaire du Sart‐Tilman, University of Liège, 4000 Liège, Belgium

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Vincent Rohmer Departments of, Endocrinology, Molecular Genetics, Institute of Pathology, Laboratory of Biochemistry and Molecular Biology, CRN2M, Department of Experimental Medicine, Neuromed, Division of Endocrinology, Department of Endocrinology, Group for Advanced Molecular Investigation, Service d'Endocrinologie, Department of Endocrinology, Unit of Endocrinology, Department of Endocrinology, Department of Endocrinology, Clinical Center of Endocrinology and Gerontology, Faculty of Medicine, Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Internal Medicine and Endocrinology, Department of Endocrinology, Service d'Endocrinologie, Centre Hospitalier Universitaire de Liège, Domaine Universitaire du Sart‐Tilman, University of Liège, 4000 Liège, Belgium

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Fabio Rueda Faucz Departments of, Endocrinology, Molecular Genetics, Institute of Pathology, Laboratory of Biochemistry and Molecular Biology, CRN2M, Department of Experimental Medicine, Neuromed, Division of Endocrinology, Department of Endocrinology, Group for Advanced Molecular Investigation, Service d'Endocrinologie, Department of Endocrinology, Unit of Endocrinology, Department of Endocrinology, Department of Endocrinology, Clinical Center of Endocrinology and Gerontology, Faculty of Medicine, Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Internal Medicine and Endocrinology, Department of Endocrinology, Service d'Endocrinologie, Centre Hospitalier Universitaire de Liège, Domaine Universitaire du Sart‐Tilman, University of Liège, 4000 Liège, Belgium

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Philippe Caron Departments of, Endocrinology, Molecular Genetics, Institute of Pathology, Laboratory of Biochemistry and Molecular Biology, CRN2M, Department of Experimental Medicine, Neuromed, Division of Endocrinology, Department of Endocrinology, Group for Advanced Molecular Investigation, Service d'Endocrinologie, Department of Endocrinology, Unit of Endocrinology, Department of Endocrinology, Department of Endocrinology, Clinical Center of Endocrinology and Gerontology, Faculty of Medicine, Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Internal Medicine and Endocrinology, Department of Endocrinology, Service d'Endocrinologie, Centre Hospitalier Universitaire de Liège, Domaine Universitaire du Sart‐Tilman, University of Liège, 4000 Liège, Belgium

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Bruno Estour Departments of, Endocrinology, Molecular Genetics, Institute of Pathology, Laboratory of Biochemistry and Molecular Biology, CRN2M, Department of Experimental Medicine, Neuromed, Division of Endocrinology, Department of Endocrinology, Group for Advanced Molecular Investigation, Service d'Endocrinologie, Department of Endocrinology, Unit of Endocrinology, Department of Endocrinology, Department of Endocrinology, Clinical Center of Endocrinology and Gerontology, Faculty of Medicine, Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Internal Medicine and Endocrinology, Department of Endocrinology, Service d'Endocrinologie, Centre Hospitalier Universitaire de Liège, Domaine Universitaire du Sart‐Tilman, University of Liège, 4000 Liège, Belgium

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Pierre Lecomte Departments of, Endocrinology, Molecular Genetics, Institute of Pathology, Laboratory of Biochemistry and Molecular Biology, CRN2M, Department of Experimental Medicine, Neuromed, Division of Endocrinology, Department of Endocrinology, Group for Advanced Molecular Investigation, Service d'Endocrinologie, Department of Endocrinology, Unit of Endocrinology, Department of Endocrinology, Department of Endocrinology, Clinical Center of Endocrinology and Gerontology, Faculty of Medicine, Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Internal Medicine and Endocrinology, Department of Endocrinology, Service d'Endocrinologie, Centre Hospitalier Universitaire de Liège, Domaine Universitaire du Sart‐Tilman, University of Liège, 4000 Liège, Belgium

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Françoise Borson-Chazot Departments of, Endocrinology, Molecular Genetics, Institute of Pathology, Laboratory of Biochemistry and Molecular Biology, CRN2M, Department of Experimental Medicine, Neuromed, Division of Endocrinology, Department of Endocrinology, Group for Advanced Molecular Investigation, Service d'Endocrinologie, Department of Endocrinology, Unit of Endocrinology, Department of Endocrinology, Department of Endocrinology, Clinical Center of Endocrinology and Gerontology, Faculty of Medicine, Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Internal Medicine and Endocrinology, Department of Endocrinology, Service d'Endocrinologie, Centre Hospitalier Universitaire de Liège, Domaine Universitaire du Sart‐Tilman, University of Liège, 4000 Liège, Belgium

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Alfred Penfornis Departments of, Endocrinology, Molecular Genetics, Institute of Pathology, Laboratory of Biochemistry and Molecular Biology, CRN2M, Department of Experimental Medicine, Neuromed, Division of Endocrinology, Department of Endocrinology, Group for Advanced Molecular Investigation, Service d'Endocrinologie, Department of Endocrinology, Unit of Endocrinology, Department of Endocrinology, Department of Endocrinology, Clinical Center of Endocrinology and Gerontology, Faculty of Medicine, Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Internal Medicine and Endocrinology, Department of Endocrinology, Service d'Endocrinologie, Centre Hospitalier Universitaire de Liège, Domaine Universitaire du Sart‐Tilman, University of Liège, 4000 Liège, Belgium

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Maria Yaneva Departments of, Endocrinology, Molecular Genetics, Institute of Pathology, Laboratory of Biochemistry and Molecular Biology, CRN2M, Department of Experimental Medicine, Neuromed, Division of Endocrinology, Department of Endocrinology, Group for Advanced Molecular Investigation, Service d'Endocrinologie, Department of Endocrinology, Unit of Endocrinology, Department of Endocrinology, Department of Endocrinology, Clinical Center of Endocrinology and Gerontology, Faculty of Medicine, Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Internal Medicine and Endocrinology, Department of Endocrinology, Service d'Endocrinologie, Centre Hospitalier Universitaire de Liège, Domaine Universitaire du Sart‐Tilman, University of Liège, 4000 Liège, Belgium

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Mirtha Guitelman Departments of, Endocrinology, Molecular Genetics, Institute of Pathology, Laboratory of Biochemistry and Molecular Biology, CRN2M, Department of Experimental Medicine, Neuromed, Division of Endocrinology, Department of Endocrinology, Group for Advanced Molecular Investigation, Service d'Endocrinologie, Department of Endocrinology, Unit of Endocrinology, Department of Endocrinology, Department of Endocrinology, Clinical Center of Endocrinology and Gerontology, Faculty of Medicine, Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Internal Medicine and Endocrinology, Department of Endocrinology, Service d'Endocrinologie, Centre Hospitalier Universitaire de Liège, Domaine Universitaire du Sart‐Tilman, University of Liège, 4000 Liège, Belgium

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Emily Castermans Departments of, Endocrinology, Molecular Genetics, Institute of Pathology, Laboratory of Biochemistry and Molecular Biology, CRN2M, Department of Experimental Medicine, Neuromed, Division of Endocrinology, Department of Endocrinology, Group for Advanced Molecular Investigation, Service d'Endocrinologie, Department of Endocrinology, Unit of Endocrinology, Department of Endocrinology, Department of Endocrinology, Clinical Center of Endocrinology and Gerontology, Faculty of Medicine, Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Internal Medicine and Endocrinology, Department of Endocrinology, Service d'Endocrinologie, Centre Hospitalier Universitaire de Liège, Domaine Universitaire du Sart‐Tilman, University of Liège, 4000 Liège, Belgium

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Catherine Verhaege Departments of, Endocrinology, Molecular Genetics, Institute of Pathology, Laboratory of Biochemistry and Molecular Biology, CRN2M, Department of Experimental Medicine, Neuromed, Division of Endocrinology, Department of Endocrinology, Group for Advanced Molecular Investigation, Service d'Endocrinologie, Department of Endocrinology, Unit of Endocrinology, Department of Endocrinology, Department of Endocrinology, Clinical Center of Endocrinology and Gerontology, Faculty of Medicine, Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Internal Medicine and Endocrinology, Department of Endocrinology, Service d'Endocrinologie, Centre Hospitalier Universitaire de Liège, Domaine Universitaire du Sart‐Tilman, University of Liège, 4000 Liège, Belgium

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Jean-Louis Wémeau Departments of, Endocrinology, Molecular Genetics, Institute of Pathology, Laboratory of Biochemistry and Molecular Biology, CRN2M, Department of Experimental Medicine, Neuromed, Division of Endocrinology, Department of Endocrinology, Group for Advanced Molecular Investigation, Service d'Endocrinologie, Department of Endocrinology, Unit of Endocrinology, Department of Endocrinology, Department of Endocrinology, Clinical Center of Endocrinology and Gerontology, Faculty of Medicine, Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Internal Medicine and Endocrinology, Department of Endocrinology, Service d'Endocrinologie, Centre Hospitalier Universitaire de Liège, Domaine Universitaire du Sart‐Tilman, University of Liège, 4000 Liège, Belgium

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Antoine Tabarin Departments of, Endocrinology, Molecular Genetics, Institute of Pathology, Laboratory of Biochemistry and Molecular Biology, CRN2M, Department of Experimental Medicine, Neuromed, Division of Endocrinology, Department of Endocrinology, Group for Advanced Molecular Investigation, Service d'Endocrinologie, Department of Endocrinology, Unit of Endocrinology, Department of Endocrinology, Department of Endocrinology, Clinical Center of Endocrinology and Gerontology, Faculty of Medicine, Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Internal Medicine and Endocrinology, Department of Endocrinology, Service d'Endocrinologie, Centre Hospitalier Universitaire de Liège, Domaine Universitaire du Sart‐Tilman, University of Liège, 4000 Liège, Belgium

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Carmen Fajardo Montañana Departments of, Endocrinology, Molecular Genetics, Institute of Pathology, Laboratory of Biochemistry and Molecular Biology, CRN2M, Department of Experimental Medicine, Neuromed, Division of Endocrinology, Department of Endocrinology, Group for Advanced Molecular Investigation, Service d'Endocrinologie, Department of Endocrinology, Unit of Endocrinology, Department of Endocrinology, Department of Endocrinology, Clinical Center of Endocrinology and Gerontology, Faculty of Medicine, Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Internal Medicine and Endocrinology, Department of Endocrinology, Service d'Endocrinologie, Centre Hospitalier Universitaire de Liège, Domaine Universitaire du Sart‐Tilman, University of Liège, 4000 Liège, Belgium

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Brigitte Delemer Departments of, Endocrinology, Molecular Genetics, Institute of Pathology, Laboratory of Biochemistry and Molecular Biology, CRN2M, Department of Experimental Medicine, Neuromed, Division of Endocrinology, Department of Endocrinology, Group for Advanced Molecular Investigation, Service d'Endocrinologie, Department of Endocrinology, Unit of Endocrinology, Department of Endocrinology, Department of Endocrinology, Clinical Center of Endocrinology and Gerontology, Faculty of Medicine, Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Internal Medicine and Endocrinology, Department of Endocrinology, Service d'Endocrinologie, Centre Hospitalier Universitaire de Liège, Domaine Universitaire du Sart‐Tilman, University of Liège, 4000 Liège, Belgium

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Veronique Kerlan Departments of, Endocrinology, Molecular Genetics, Institute of Pathology, Laboratory of Biochemistry and Molecular Biology, CRN2M, Department of Experimental Medicine, Neuromed, Division of Endocrinology, Department of Endocrinology, Group for Advanced Molecular Investigation, Service d'Endocrinologie, Department of Endocrinology, Unit of Endocrinology, Department of Endocrinology, Department of Endocrinology, Clinical Center of Endocrinology and Gerontology, Faculty of Medicine, Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Internal Medicine and Endocrinology, Department of Endocrinology, Service d'Endocrinologie, Centre Hospitalier Universitaire de Liège, Domaine Universitaire du Sart‐Tilman, University of Liège, 4000 Liège, Belgium

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Jean-Louis Sadoul Departments of, Endocrinology, Molecular Genetics, Institute of Pathology, Laboratory of Biochemistry and Molecular Biology, CRN2M, Department of Experimental Medicine, Neuromed, Division of Endocrinology, Department of Endocrinology, Group for Advanced Molecular Investigation, Service d'Endocrinologie, Department of Endocrinology, Unit of Endocrinology, Department of Endocrinology, Department of Endocrinology, Clinical Center of Endocrinology and Gerontology, Faculty of Medicine, Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Internal Medicine and Endocrinology, Department of Endocrinology, Service d'Endocrinologie, Centre Hospitalier Universitaire de Liège, Domaine Universitaire du Sart‐Tilman, University of Liège, 4000 Liège, Belgium

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Christine Cortet Rudelli Departments of, Endocrinology, Molecular Genetics, Institute of Pathology, Laboratory of Biochemistry and Molecular Biology, CRN2M, Department of Experimental Medicine, Neuromed, Division of Endocrinology, Department of Endocrinology, Group for Advanced Molecular Investigation, Service d'Endocrinologie, Department of Endocrinology, Unit of Endocrinology, Department of Endocrinology, Department of Endocrinology, Clinical Center of Endocrinology and Gerontology, Faculty of Medicine, Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Internal Medicine and Endocrinology, Department of Endocrinology, Service d'Endocrinologie, Centre Hospitalier Universitaire de Liège, Domaine Universitaire du Sart‐Tilman, University of Liège, 4000 Liège, Belgium

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Françoise Archambeaud Departments of, Endocrinology, Molecular Genetics, Institute of Pathology, Laboratory of Biochemistry and Molecular Biology, CRN2M, Department of Experimental Medicine, Neuromed, Division of Endocrinology, Department of Endocrinology, Group for Advanced Molecular Investigation, Service d'Endocrinologie, Department of Endocrinology, Unit of Endocrinology, Department of Endocrinology, Department of Endocrinology, Clinical Center of Endocrinology and Gerontology, Faculty of Medicine, Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Internal Medicine and Endocrinology, Department of Endocrinology, Service d'Endocrinologie, Centre Hospitalier Universitaire de Liège, Domaine Universitaire du Sart‐Tilman, University of Liège, 4000 Liège, Belgium

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Sabine Zacharieva Departments of, Endocrinology, Molecular Genetics, Institute of Pathology, Laboratory of Biochemistry and Molecular Biology, CRN2M, Department of Experimental Medicine, Neuromed, Division of Endocrinology, Department of Endocrinology, Group for Advanced Molecular Investigation, Service d'Endocrinologie, Department of Endocrinology, Unit of Endocrinology, Department of Endocrinology, Department of Endocrinology, Clinical Center of Endocrinology and Gerontology, Faculty of Medicine, Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Internal Medicine and Endocrinology, Department of Endocrinology, Service d'Endocrinologie, Centre Hospitalier Universitaire de Liège, Domaine Universitaire du Sart‐Tilman, University of Liège, 4000 Liège, Belgium

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Marily Theodoropoulou Departments of, Endocrinology, Molecular Genetics, Institute of Pathology, Laboratory of Biochemistry and Molecular Biology, CRN2M, Department of Experimental Medicine, Neuromed, Division of Endocrinology, Department of Endocrinology, Group for Advanced Molecular Investigation, Service d'Endocrinologie, Department of Endocrinology, Unit of Endocrinology, Department of Endocrinology, Department of Endocrinology, Clinical Center of Endocrinology and Gerontology, Faculty of Medicine, Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Internal Medicine and Endocrinology, Department of Endocrinology, Service d'Endocrinologie, Centre Hospitalier Universitaire de Liège, Domaine Universitaire du Sart‐Tilman, University of Liège, 4000 Liège, Belgium

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Thierry Brue Departments of, Endocrinology, Molecular Genetics, Institute of Pathology, Laboratory of Biochemistry and Molecular Biology, CRN2M, Department of Experimental Medicine, Neuromed, Division of Endocrinology, Department of Endocrinology, Group for Advanced Molecular Investigation, Service d'Endocrinologie, Department of Endocrinology, Unit of Endocrinology, Department of Endocrinology, Department of Endocrinology, Clinical Center of Endocrinology and Gerontology, Faculty of Medicine, Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Internal Medicine and Endocrinology, Department of Endocrinology, Service d'Endocrinologie, Centre Hospitalier Universitaire de Liège, Domaine Universitaire du Sart‐Tilman, University of Liège, 4000 Liège, Belgium

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Alain Enjalbert Departments of, Endocrinology, Molecular Genetics, Institute of Pathology, Laboratory of Biochemistry and Molecular Biology, CRN2M, Department of Experimental Medicine, Neuromed, Division of Endocrinology, Department of Endocrinology, Group for Advanced Molecular Investigation, Service d'Endocrinologie, Department of Endocrinology, Unit of Endocrinology, Department of Endocrinology, Department of Endocrinology, Clinical Center of Endocrinology and Gerontology, Faculty of Medicine, Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Internal Medicine and Endocrinology, Department of Endocrinology, Service d'Endocrinologie, Centre Hospitalier Universitaire de Liège, Domaine Universitaire du Sart‐Tilman, University of Liège, 4000 Liège, Belgium
Departments of, Endocrinology, Molecular Genetics, Institute of Pathology, Laboratory of Biochemistry and Molecular Biology, CRN2M, Department of Experimental Medicine, Neuromed, Division of Endocrinology, Department of Endocrinology, Group for Advanced Molecular Investigation, Service d'Endocrinologie, Department of Endocrinology, Unit of Endocrinology, Department of Endocrinology, Department of Endocrinology, Clinical Center of Endocrinology and Gerontology, Faculty of Medicine, Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Internal Medicine and Endocrinology, Department of Endocrinology, Service d'Endocrinologie, Centre Hospitalier Universitaire de Liège, Domaine Universitaire du Sart‐Tilman, University of Liège, 4000 Liège, Belgium

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Vincent Bours Departments of, Endocrinology, Molecular Genetics, Institute of Pathology, Laboratory of Biochemistry and Molecular Biology, CRN2M, Department of Experimental Medicine, Neuromed, Division of Endocrinology, Department of Endocrinology, Group for Advanced Molecular Investigation, Service d'Endocrinologie, Department of Endocrinology, Unit of Endocrinology, Department of Endocrinology, Department of Endocrinology, Clinical Center of Endocrinology and Gerontology, Faculty of Medicine, Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Internal Medicine and Endocrinology, Department of Endocrinology, Service d'Endocrinologie, Centre Hospitalier Universitaire de Liège, Domaine Universitaire du Sart‐Tilman, University of Liège, 4000 Liège, Belgium

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Natalia S Pellegata Departments of, Endocrinology, Molecular Genetics, Institute of Pathology, Laboratory of Biochemistry and Molecular Biology, CRN2M, Department of Experimental Medicine, Neuromed, Division of Endocrinology, Department of Endocrinology, Group for Advanced Molecular Investigation, Service d'Endocrinologie, Department of Endocrinology, Unit of Endocrinology, Department of Endocrinology, Department of Endocrinology, Clinical Center of Endocrinology and Gerontology, Faculty of Medicine, Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Internal Medicine and Endocrinology, Department of Endocrinology, Service d'Endocrinologie, Centre Hospitalier Universitaire de Liège, Domaine Universitaire du Sart‐Tilman, University of Liège, 4000 Liège, Belgium

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Albert Beckers Departments of, Endocrinology, Molecular Genetics, Institute of Pathology, Laboratory of Biochemistry and Molecular Biology, CRN2M, Department of Experimental Medicine, Neuromed, Division of Endocrinology, Department of Endocrinology, Group for Advanced Molecular Investigation, Service d'Endocrinologie, Department of Endocrinology, Unit of Endocrinology, Department of Endocrinology, Department of Endocrinology, Clinical Center of Endocrinology and Gerontology, Faculty of Medicine, Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Internal Medicine and Endocrinology, Department of Endocrinology, Service d'Endocrinologie, Centre Hospitalier Universitaire de Liège, Domaine Universitaire du Sart‐Tilman, University of Liège, 4000 Liège, Belgium

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Familial isolated pituitary adenoma (FIPA) occurs in families and is unrelated to multiple endocrine neoplasia type 1 and Carney complex. Mutations in AIP account only for 15–25% of FIPA families. CDKN1B mutations cause MEN4 in which affected patients can suffer from pituitary adenomas. With this study, we wanted to assess whether mutations in CDKN1B occur among a large cohort of AIP mutation-negative FIPA kindreds. Eighty-eight AIP mutation-negative FIPA families were studied and 124 affected subjects underwent sequencing of CDKN1B. Functional analysis of putative CDKN1B mutations was performed using in silico and in vitro approaches. Germline CDKN1B analysis revealed two nucleotide changes: c.286A>C (p.K96Q) and c.356T>C (p.I119T). In vitro, the K96Q change decreased p27 affinity for Grb2 but did not segregate with pituitary adenoma in the FIPA kindred. The I119T substitution occurred in a female patient with acromegaly. p27I119T shows an abnormal migration pattern by SDS–PAGE. Three variants (p.S56T, p.T142T, and c.605+36C>T) are likely nonpathogenic because In vitro effects were not seen. In conclusion, two patients had germline sequence changes in CDKN1B, which led to functional alterations in the encoded p27 proteins in vitro. Such rare CDKN1B variants may contribute to the development of pituitary adenomas, but their low incidence and lack of clear segregation with affected patients make CDKN1B sequencing unlikely to be of use in routine genetic investigation of FIPA kindreds. However, further characterization of the role of CDKN1B in pituitary tumorigenesis in these and other cases could help clarify the clinicopathological profile of MEN4.

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Albert Beckers Department of Endocrinology, Program on Developmental Endocrinology and Genetics, Helmholtz Zentrum München, Department of Molecular and Human Genetics, Department of Pediatric Endocrinology and Diabetes, Department of Clinical Genetics, Endocrinology and Diabetology Unit, Department of Endocrinology, Department of Paediatric Endocrinology, INSERM U 693, Pediatric Endocrinology Unit, Mater Medical Research Institute, Department of Endocrinology, Endocrinology and Diabetes Unit, Section of Endocrinology, Service d'Anatomie et Cytologie Pathologiques, INSERM Unité 1016, Institute of Pediatric Endocrinology, Burdenko Neurosurgery Institute, Department of Neurosurgery, Laboratorio Sabin, Section of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology and Diabetes, Department of Endocrinology, Clinical Center of Endocrinology and Gerontology, Department of Clinical Biochemistry, Skeletal Clinical Studies Unit, Laboratory of Pathology, National Institute of Neurological Disorders and Stroke, Department of Neurosurgery, Department of Pediatrics, Texas Children's Hospital, Centre Hospitalier Universitaire de Liège, University of Liège, Domaine Universitaire du Sart‐Tilman, 4000 Liège, Belgium

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Maya Beth Lodish Department of Endocrinology, Program on Developmental Endocrinology and Genetics, Helmholtz Zentrum München, Department of Molecular and Human Genetics, Department of Pediatric Endocrinology and Diabetes, Department of Clinical Genetics, Endocrinology and Diabetology Unit, Department of Endocrinology, Department of Paediatric Endocrinology, INSERM U 693, Pediatric Endocrinology Unit, Mater Medical Research Institute, Department of Endocrinology, Endocrinology and Diabetes Unit, Section of Endocrinology, Service d'Anatomie et Cytologie Pathologiques, INSERM Unité 1016, Institute of Pediatric Endocrinology, Burdenko Neurosurgery Institute, Department of Neurosurgery, Laboratorio Sabin, Section of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology and Diabetes, Department of Endocrinology, Clinical Center of Endocrinology and Gerontology, Department of Clinical Biochemistry, Skeletal Clinical Studies Unit, Laboratory of Pathology, National Institute of Neurological Disorders and Stroke, Department of Neurosurgery, Department of Pediatrics, Texas Children's Hospital, Centre Hospitalier Universitaire de Liège, University of Liège, Domaine Universitaire du Sart‐Tilman, 4000 Liège, Belgium

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Giampaolo Trivellin Department of Endocrinology, Program on Developmental Endocrinology and Genetics, Helmholtz Zentrum München, Department of Molecular and Human Genetics, Department of Pediatric Endocrinology and Diabetes, Department of Clinical Genetics, Endocrinology and Diabetology Unit, Department of Endocrinology, Department of Paediatric Endocrinology, INSERM U 693, Pediatric Endocrinology Unit, Mater Medical Research Institute, Department of Endocrinology, Endocrinology and Diabetes Unit, Section of Endocrinology, Service d'Anatomie et Cytologie Pathologiques, INSERM Unité 1016, Institute of Pediatric Endocrinology, Burdenko Neurosurgery Institute, Department of Neurosurgery, Laboratorio Sabin, Section of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology and Diabetes, Department of Endocrinology, Clinical Center of Endocrinology and Gerontology, Department of Clinical Biochemistry, Skeletal Clinical Studies Unit, Laboratory of Pathology, National Institute of Neurological Disorders and Stroke, Department of Neurosurgery, Department of Pediatrics, Texas Children's Hospital, Centre Hospitalier Universitaire de Liège, University of Liège, Domaine Universitaire du Sart‐Tilman, 4000 Liège, Belgium

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Liliya Rostomyan Department of Endocrinology, Program on Developmental Endocrinology and Genetics, Helmholtz Zentrum München, Department of Molecular and Human Genetics, Department of Pediatric Endocrinology and Diabetes, Department of Clinical Genetics, Endocrinology and Diabetology Unit, Department of Endocrinology, Department of Paediatric Endocrinology, INSERM U 693, Pediatric Endocrinology Unit, Mater Medical Research Institute, Department of Endocrinology, Endocrinology and Diabetes Unit, Section of Endocrinology, Service d'Anatomie et Cytologie Pathologiques, INSERM Unité 1016, Institute of Pediatric Endocrinology, Burdenko Neurosurgery Institute, Department of Neurosurgery, Laboratorio Sabin, Section of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology and Diabetes, Department of Endocrinology, Clinical Center of Endocrinology and Gerontology, Department of Clinical Biochemistry, Skeletal Clinical Studies Unit, Laboratory of Pathology, National Institute of Neurological Disorders and Stroke, Department of Neurosurgery, Department of Pediatrics, Texas Children's Hospital, Centre Hospitalier Universitaire de Liège, University of Liège, Domaine Universitaire du Sart‐Tilman, 4000 Liège, Belgium

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Misu Lee Department of Endocrinology, Program on Developmental Endocrinology and Genetics, Helmholtz Zentrum München, Department of Molecular and Human Genetics, Department of Pediatric Endocrinology and Diabetes, Department of Clinical Genetics, Endocrinology and Diabetology Unit, Department of Endocrinology, Department of Paediatric Endocrinology, INSERM U 693, Pediatric Endocrinology Unit, Mater Medical Research Institute, Department of Endocrinology, Endocrinology and Diabetes Unit, Section of Endocrinology, Service d'Anatomie et Cytologie Pathologiques, INSERM Unité 1016, Institute of Pediatric Endocrinology, Burdenko Neurosurgery Institute, Department of Neurosurgery, Laboratorio Sabin, Section of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology and Diabetes, Department of Endocrinology, Clinical Center of Endocrinology and Gerontology, Department of Clinical Biochemistry, Skeletal Clinical Studies Unit, Laboratory of Pathology, National Institute of Neurological Disorders and Stroke, Department of Neurosurgery, Department of Pediatrics, Texas Children's Hospital, Centre Hospitalier Universitaire de Liège, University of Liège, Domaine Universitaire du Sart‐Tilman, 4000 Liège, Belgium

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Fabio R Faucz Department of Endocrinology, Program on Developmental Endocrinology and Genetics, Helmholtz Zentrum München, Department of Molecular and Human Genetics, Department of Pediatric Endocrinology and Diabetes, Department of Clinical Genetics, Endocrinology and Diabetology Unit, Department of Endocrinology, Department of Paediatric Endocrinology, INSERM U 693, Pediatric Endocrinology Unit, Mater Medical Research Institute, Department of Endocrinology, Endocrinology and Diabetes Unit, Section of Endocrinology, Service d'Anatomie et Cytologie Pathologiques, INSERM Unité 1016, Institute of Pediatric Endocrinology, Burdenko Neurosurgery Institute, Department of Neurosurgery, Laboratorio Sabin, Section of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology and Diabetes, Department of Endocrinology, Clinical Center of Endocrinology and Gerontology, Department of Clinical Biochemistry, Skeletal Clinical Studies Unit, Laboratory of Pathology, National Institute of Neurological Disorders and Stroke, Department of Neurosurgery, Department of Pediatrics, Texas Children's Hospital, Centre Hospitalier Universitaire de Liège, University of Liège, Domaine Universitaire du Sart‐Tilman, 4000 Liège, Belgium

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Bo Yuan Department of Endocrinology, Program on Developmental Endocrinology and Genetics, Helmholtz Zentrum München, Department of Molecular and Human Genetics, Department of Pediatric Endocrinology and Diabetes, Department of Clinical Genetics, Endocrinology and Diabetology Unit, Department of Endocrinology, Department of Paediatric Endocrinology, INSERM U 693, Pediatric Endocrinology Unit, Mater Medical Research Institute, Department of Endocrinology, Endocrinology and Diabetes Unit, Section of Endocrinology, Service d'Anatomie et Cytologie Pathologiques, INSERM Unité 1016, Institute of Pediatric Endocrinology, Burdenko Neurosurgery Institute, Department of Neurosurgery, Laboratorio Sabin, Section of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology and Diabetes, Department of Endocrinology, Clinical Center of Endocrinology and Gerontology, Department of Clinical Biochemistry, Skeletal Clinical Studies Unit, Laboratory of Pathology, National Institute of Neurological Disorders and Stroke, Department of Neurosurgery, Department of Pediatrics, Texas Children's Hospital, Centre Hospitalier Universitaire de Liège, University of Liège, Domaine Universitaire du Sart‐Tilman, 4000 Liège, Belgium

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Catherine S Choong Department of Endocrinology, Program on Developmental Endocrinology and Genetics, Helmholtz Zentrum München, Department of Molecular and Human Genetics, Department of Pediatric Endocrinology and Diabetes, Department of Clinical Genetics, Endocrinology and Diabetology Unit, Department of Endocrinology, Department of Paediatric Endocrinology, INSERM U 693, Pediatric Endocrinology Unit, Mater Medical Research Institute, Department of Endocrinology, Endocrinology and Diabetes Unit, Section of Endocrinology, Service d'Anatomie et Cytologie Pathologiques, INSERM Unité 1016, Institute of Pediatric Endocrinology, Burdenko Neurosurgery Institute, Department of Neurosurgery, Laboratorio Sabin, Section of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology and Diabetes, Department of Endocrinology, Clinical Center of Endocrinology and Gerontology, Department of Clinical Biochemistry, Skeletal Clinical Studies Unit, Laboratory of Pathology, National Institute of Neurological Disorders and Stroke, Department of Neurosurgery, Department of Pediatrics, Texas Children's Hospital, Centre Hospitalier Universitaire de Liège, University of Liège, Domaine Universitaire du Sart‐Tilman, 4000 Liège, Belgium

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Jean-Hubert Caberg Department of Endocrinology, Program on Developmental Endocrinology and Genetics, Helmholtz Zentrum München, Department of Molecular and Human Genetics, Department of Pediatric Endocrinology and Diabetes, Department of Clinical Genetics, Endocrinology and Diabetology Unit, Department of Endocrinology, Department of Paediatric Endocrinology, INSERM U 693, Pediatric Endocrinology Unit, Mater Medical Research Institute, Department of Endocrinology, Endocrinology and Diabetes Unit, Section of Endocrinology, Service d'Anatomie et Cytologie Pathologiques, INSERM Unité 1016, Institute of Pediatric Endocrinology, Burdenko Neurosurgery Institute, Department of Neurosurgery, Laboratorio Sabin, Section of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology and Diabetes, Department of Endocrinology, Clinical Center of Endocrinology and Gerontology, Department of Clinical Biochemistry, Skeletal Clinical Studies Unit, Laboratory of Pathology, National Institute of Neurological Disorders and Stroke, Department of Neurosurgery, Department of Pediatrics, Texas Children's Hospital, Centre Hospitalier Universitaire de Liège, University of Liège, Domaine Universitaire du Sart‐Tilman, 4000 Liège, Belgium

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Elisa Verrua Department of Endocrinology, Program on Developmental Endocrinology and Genetics, Helmholtz Zentrum München, Department of Molecular and Human Genetics, Department of Pediatric Endocrinology and Diabetes, Department of Clinical Genetics, Endocrinology and Diabetology Unit, Department of Endocrinology, Department of Paediatric Endocrinology, INSERM U 693, Pediatric Endocrinology Unit, Mater Medical Research Institute, Department of Endocrinology, Endocrinology and Diabetes Unit, Section of Endocrinology, Service d'Anatomie et Cytologie Pathologiques, INSERM Unité 1016, Institute of Pediatric Endocrinology, Burdenko Neurosurgery Institute, Department of Neurosurgery, Laboratorio Sabin, Section of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology and Diabetes, Department of Endocrinology, Clinical Center of Endocrinology and Gerontology, Department of Clinical Biochemistry, Skeletal Clinical Studies Unit, Laboratory of Pathology, National Institute of Neurological Disorders and Stroke, Department of Neurosurgery, Department of Pediatrics, Texas Children's Hospital, Centre Hospitalier Universitaire de Liège, University of Liège, Domaine Universitaire du Sart‐Tilman, 4000 Liège, Belgium

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Luciana Ansaneli Naves Department of Endocrinology, Program on Developmental Endocrinology and Genetics, Helmholtz Zentrum München, Department of Molecular and Human Genetics, Department of Pediatric Endocrinology and Diabetes, Department of Clinical Genetics, Endocrinology and Diabetology Unit, Department of Endocrinology, Department of Paediatric Endocrinology, INSERM U 693, Pediatric Endocrinology Unit, Mater Medical Research Institute, Department of Endocrinology, Endocrinology and Diabetes Unit, Section of Endocrinology, Service d'Anatomie et Cytologie Pathologiques, INSERM Unité 1016, Institute of Pediatric Endocrinology, Burdenko Neurosurgery Institute, Department of Neurosurgery, Laboratorio Sabin, Section of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology and Diabetes, Department of Endocrinology, Clinical Center of Endocrinology and Gerontology, Department of Clinical Biochemistry, Skeletal Clinical Studies Unit, Laboratory of Pathology, National Institute of Neurological Disorders and Stroke, Department of Neurosurgery, Department of Pediatrics, Texas Children's Hospital, Centre Hospitalier Universitaire de Liège, University of Liège, Domaine Universitaire du Sart‐Tilman, 4000 Liège, Belgium

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Tim D Cheetham Department of Endocrinology, Program on Developmental Endocrinology and Genetics, Helmholtz Zentrum München, Department of Molecular and Human Genetics, Department of Pediatric Endocrinology and Diabetes, Department of Clinical Genetics, Endocrinology and Diabetology Unit, Department of Endocrinology, Department of Paediatric Endocrinology, INSERM U 693, Pediatric Endocrinology Unit, Mater Medical Research Institute, Department of Endocrinology, Endocrinology and Diabetes Unit, Section of Endocrinology, Service d'Anatomie et Cytologie Pathologiques, INSERM Unité 1016, Institute of Pediatric Endocrinology, Burdenko Neurosurgery Institute, Department of Neurosurgery, Laboratorio Sabin, Section of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology and Diabetes, Department of Endocrinology, Clinical Center of Endocrinology and Gerontology, Department of Clinical Biochemistry, Skeletal Clinical Studies Unit, Laboratory of Pathology, National Institute of Neurological Disorders and Stroke, Department of Neurosurgery, Department of Pediatrics, Texas Children's Hospital, Centre Hospitalier Universitaire de Liège, University of Liège, Domaine Universitaire du Sart‐Tilman, 4000 Liège, Belgium

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Jacques Young Department of Endocrinology, Program on Developmental Endocrinology and Genetics, Helmholtz Zentrum München, Department of Molecular and Human Genetics, Department of Pediatric Endocrinology and Diabetes, Department of Clinical Genetics, Endocrinology and Diabetology Unit, Department of Endocrinology, Department of Paediatric Endocrinology, INSERM U 693, Pediatric Endocrinology Unit, Mater Medical Research Institute, Department of Endocrinology, Endocrinology and Diabetes Unit, Section of Endocrinology, Service d'Anatomie et Cytologie Pathologiques, INSERM Unité 1016, Institute of Pediatric Endocrinology, Burdenko Neurosurgery Institute, Department of Neurosurgery, Laboratorio Sabin, Section of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology and Diabetes, Department of Endocrinology, Clinical Center of Endocrinology and Gerontology, Department of Clinical Biochemistry, Skeletal Clinical Studies Unit, Laboratory of Pathology, National Institute of Neurological Disorders and Stroke, Department of Neurosurgery, Department of Pediatrics, Texas Children's Hospital, Centre Hospitalier Universitaire de Liège, University of Liège, Domaine Universitaire du Sart‐Tilman, 4000 Liège, Belgium

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Philippe A Lysy Department of Endocrinology, Program on Developmental Endocrinology and Genetics, Helmholtz Zentrum München, Department of Molecular and Human Genetics, Department of Pediatric Endocrinology and Diabetes, Department of Clinical Genetics, Endocrinology and Diabetology Unit, Department of Endocrinology, Department of Paediatric Endocrinology, INSERM U 693, Pediatric Endocrinology Unit, Mater Medical Research Institute, Department of Endocrinology, Endocrinology and Diabetes Unit, Section of Endocrinology, Service d'Anatomie et Cytologie Pathologiques, INSERM Unité 1016, Institute of Pediatric Endocrinology, Burdenko Neurosurgery Institute, Department of Neurosurgery, Laboratorio Sabin, Section of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology and Diabetes, Department of Endocrinology, Clinical Center of Endocrinology and Gerontology, Department of Clinical Biochemistry, Skeletal Clinical Studies Unit, Laboratory of Pathology, National Institute of Neurological Disorders and Stroke, Department of Neurosurgery, Department of Pediatrics, Texas Children's Hospital, Centre Hospitalier Universitaire de Liège, University of Liège, Domaine Universitaire du Sart‐Tilman, 4000 Liège, Belgium

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Patrick Petrossians Department of Endocrinology, Program on Developmental Endocrinology and Genetics, Helmholtz Zentrum München, Department of Molecular and Human Genetics, Department of Pediatric Endocrinology and Diabetes, Department of Clinical Genetics, Endocrinology and Diabetology Unit, Department of Endocrinology, Department of Paediatric Endocrinology, INSERM U 693, Pediatric Endocrinology Unit, Mater Medical Research Institute, Department of Endocrinology, Endocrinology and Diabetes Unit, Section of Endocrinology, Service d'Anatomie et Cytologie Pathologiques, INSERM Unité 1016, Institute of Pediatric Endocrinology, Burdenko Neurosurgery Institute, Department of Neurosurgery, Laboratorio Sabin, Section of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology and Diabetes, Department of Endocrinology, Clinical Center of Endocrinology and Gerontology, Department of Clinical Biochemistry, Skeletal Clinical Studies Unit, Laboratory of Pathology, National Institute of Neurological Disorders and Stroke, Department of Neurosurgery, Department of Pediatrics, Texas Children's Hospital, Centre Hospitalier Universitaire de Liège, University of Liège, Domaine Universitaire du Sart‐Tilman, 4000 Liège, Belgium

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Andrew Cotterill Department of Endocrinology, Program on Developmental Endocrinology and Genetics, Helmholtz Zentrum München, Department of Molecular and Human Genetics, Department of Pediatric Endocrinology and Diabetes, Department of Clinical Genetics, Endocrinology and Diabetology Unit, Department of Endocrinology, Department of Paediatric Endocrinology, INSERM U 693, Pediatric Endocrinology Unit, Mater Medical Research Institute, Department of Endocrinology, Endocrinology and Diabetes Unit, Section of Endocrinology, Service d'Anatomie et Cytologie Pathologiques, INSERM Unité 1016, Institute of Pediatric Endocrinology, Burdenko Neurosurgery Institute, Department of Neurosurgery, Laboratorio Sabin, Section of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology and Diabetes, Department of Endocrinology, Clinical Center of Endocrinology and Gerontology, Department of Clinical Biochemistry, Skeletal Clinical Studies Unit, Laboratory of Pathology, National Institute of Neurological Disorders and Stroke, Department of Neurosurgery, Department of Pediatrics, Texas Children's Hospital, Centre Hospitalier Universitaire de Liège, University of Liège, Domaine Universitaire du Sart‐Tilman, 4000 Liège, Belgium

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Nalini Samir Shah Department of Endocrinology, Program on Developmental Endocrinology and Genetics, Helmholtz Zentrum München, Department of Molecular and Human Genetics, Department of Pediatric Endocrinology and Diabetes, Department of Clinical Genetics, Endocrinology and Diabetology Unit, Department of Endocrinology, Department of Paediatric Endocrinology, INSERM U 693, Pediatric Endocrinology Unit, Mater Medical Research Institute, Department of Endocrinology, Endocrinology and Diabetes Unit, Section of Endocrinology, Service d'Anatomie et Cytologie Pathologiques, INSERM Unité 1016, Institute of Pediatric Endocrinology, Burdenko Neurosurgery Institute, Department of Neurosurgery, Laboratorio Sabin, Section of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology and Diabetes, Department of Endocrinology, Clinical Center of Endocrinology and Gerontology, Department of Clinical Biochemistry, Skeletal Clinical Studies Unit, Laboratory of Pathology, National Institute of Neurological Disorders and Stroke, Department of Neurosurgery, Department of Pediatrics, Texas Children's Hospital, Centre Hospitalier Universitaire de Liège, University of Liège, Domaine Universitaire du Sart‐Tilman, 4000 Liège, Belgium

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Daniel Metzger Department of Endocrinology, Program on Developmental Endocrinology and Genetics, Helmholtz Zentrum München, Department of Molecular and Human Genetics, Department of Pediatric Endocrinology and Diabetes, Department of Clinical Genetics, Endocrinology and Diabetology Unit, Department of Endocrinology, Department of Paediatric Endocrinology, INSERM U 693, Pediatric Endocrinology Unit, Mater Medical Research Institute, Department of Endocrinology, Endocrinology and Diabetes Unit, Section of Endocrinology, Service d'Anatomie et Cytologie Pathologiques, INSERM Unité 1016, Institute of Pediatric Endocrinology, Burdenko Neurosurgery Institute, Department of Neurosurgery, Laboratorio Sabin, Section of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology and Diabetes, Department of Endocrinology, Clinical Center of Endocrinology and Gerontology, Department of Clinical Biochemistry, Skeletal Clinical Studies Unit, Laboratory of Pathology, National Institute of Neurological Disorders and Stroke, Department of Neurosurgery, Department of Pediatrics, Texas Children's Hospital, Centre Hospitalier Universitaire de Liège, University of Liège, Domaine Universitaire du Sart‐Tilman, 4000 Liège, Belgium

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Emilie Castermans Department of Endocrinology, Program on Developmental Endocrinology and Genetics, Helmholtz Zentrum München, Department of Molecular and Human Genetics, Department of Pediatric Endocrinology and Diabetes, Department of Clinical Genetics, Endocrinology and Diabetology Unit, Department of Endocrinology, Department of Paediatric Endocrinology, INSERM U 693, Pediatric Endocrinology Unit, Mater Medical Research Institute, Department of Endocrinology, Endocrinology and Diabetes Unit, Section of Endocrinology, Service d'Anatomie et Cytologie Pathologiques, INSERM Unité 1016, Institute of Pediatric Endocrinology, Burdenko Neurosurgery Institute, Department of Neurosurgery, Laboratorio Sabin, Section of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology and Diabetes, Department of Endocrinology, Clinical Center of Endocrinology and Gerontology, Department of Clinical Biochemistry, Skeletal Clinical Studies Unit, Laboratory of Pathology, National Institute of Neurological Disorders and Stroke, Department of Neurosurgery, Department of Pediatrics, Texas Children's Hospital, Centre Hospitalier Universitaire de Liège, University of Liège, Domaine Universitaire du Sart‐Tilman, 4000 Liège, Belgium

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Maria Rosaria Ambrosio Department of Endocrinology, Program on Developmental Endocrinology and Genetics, Helmholtz Zentrum München, Department of Molecular and Human Genetics, Department of Pediatric Endocrinology and Diabetes, Department of Clinical Genetics, Endocrinology and Diabetology Unit, Department of Endocrinology, Department of Paediatric Endocrinology, INSERM U 693, Pediatric Endocrinology Unit, Mater Medical Research Institute, Department of Endocrinology, Endocrinology and Diabetes Unit, Section of Endocrinology, Service d'Anatomie et Cytologie Pathologiques, INSERM Unité 1016, Institute of Pediatric Endocrinology, Burdenko Neurosurgery Institute, Department of Neurosurgery, Laboratorio Sabin, Section of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology and Diabetes, Department of Endocrinology, Clinical Center of Endocrinology and Gerontology, Department of Clinical Biochemistry, Skeletal Clinical Studies Unit, Laboratory of Pathology, National Institute of Neurological Disorders and Stroke, Department of Neurosurgery, Department of Pediatrics, Texas Children's Hospital, Centre Hospitalier Universitaire de Liège, University of Liège, Domaine Universitaire du Sart‐Tilman, 4000 Liège, Belgium

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Chiara Villa Department of Endocrinology, Program on Developmental Endocrinology and Genetics, Helmholtz Zentrum München, Department of Molecular and Human Genetics, Department of Pediatric Endocrinology and Diabetes, Department of Clinical Genetics, Endocrinology and Diabetology Unit, Department of Endocrinology, Department of Paediatric Endocrinology, INSERM U 693, Pediatric Endocrinology Unit, Mater Medical Research Institute, Department of Endocrinology, Endocrinology and Diabetes Unit, Section of Endocrinology, Service d'Anatomie et Cytologie Pathologiques, INSERM Unité 1016, Institute of Pediatric Endocrinology, Burdenko Neurosurgery Institute, Department of Neurosurgery, Laboratorio Sabin, Section of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology and Diabetes, Department of Endocrinology, Clinical Center of Endocrinology and Gerontology, Department of Clinical Biochemistry, Skeletal Clinical Studies Unit, Laboratory of Pathology, National Institute of Neurological Disorders and Stroke, Department of Neurosurgery, Department of Pediatrics, Texas Children's Hospital, Centre Hospitalier Universitaire de Liège, University of Liège, Domaine Universitaire du Sart‐Tilman, 4000 Liège, Belgium
Department of Endocrinology, Program on Developmental Endocrinology and Genetics, Helmholtz Zentrum München, Department of Molecular and Human Genetics, Department of Pediatric Endocrinology and Diabetes, Department of Clinical Genetics, Endocrinology and Diabetology Unit, Department of Endocrinology, Department of Paediatric Endocrinology, INSERM U 693, Pediatric Endocrinology Unit, Mater Medical Research Institute, Department of Endocrinology, Endocrinology and Diabetes Unit, Section of Endocrinology, Service d'Anatomie et Cytologie Pathologiques, INSERM Unité 1016, Institute of Pediatric Endocrinology, Burdenko Neurosurgery Institute, Department of Neurosurgery, Laboratorio Sabin, Section of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology and Diabetes, Department of Endocrinology, Clinical Center of Endocrinology and Gerontology, Department of Clinical Biochemistry, Skeletal Clinical Studies Unit, Laboratory of Pathology, National Institute of Neurological Disorders and Stroke, Department of Neurosurgery, Department of Pediatrics, Texas Children's Hospital, Centre Hospitalier Universitaire de Liège, University of Liège, Domaine Universitaire du Sart‐Tilman, 4000 Liège, Belgium
Department of Endocrinology, Program on Developmental Endocrinology and Genetics, Helmholtz Zentrum München, Department of Molecular and Human Genetics, Department of Pediatric Endocrinology and Diabetes, Department of Clinical Genetics, Endocrinology and Diabetology Unit, Department of Endocrinology, Department of Paediatric Endocrinology, INSERM U 693, Pediatric Endocrinology Unit, Mater Medical Research Institute, Department of Endocrinology, Endocrinology and Diabetes Unit, Section of Endocrinology, Service d'Anatomie et Cytologie Pathologiques, INSERM Unité 1016, Institute of Pediatric Endocrinology, Burdenko Neurosurgery Institute, Department of Neurosurgery, Laboratorio Sabin, Section of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology and Diabetes, Department of Endocrinology, Clinical Center of Endocrinology and Gerontology, Department of Clinical Biochemistry, Skeletal Clinical Studies Unit, Laboratory of Pathology, National Institute of Neurological Disorders and Stroke, Department of Neurosurgery, Department of Pediatrics, Texas Children's Hospital, Centre Hospitalier Universitaire de Liège, University of Liège, Domaine Universitaire du Sart‐Tilman, 4000 Liège, Belgium

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Natalia Strebkova Department of Endocrinology, Program on Developmental Endocrinology and Genetics, Helmholtz Zentrum München, Department of Molecular and Human Genetics, Department of Pediatric Endocrinology and Diabetes, Department of Clinical Genetics, Endocrinology and Diabetology Unit, Department of Endocrinology, Department of Paediatric Endocrinology, INSERM U 693, Pediatric Endocrinology Unit, Mater Medical Research Institute, Department of Endocrinology, Endocrinology and Diabetes Unit, Section of Endocrinology, Service d'Anatomie et Cytologie Pathologiques, INSERM Unité 1016, Institute of Pediatric Endocrinology, Burdenko Neurosurgery Institute, Department of Neurosurgery, Laboratorio Sabin, Section of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology and Diabetes, Department of Endocrinology, Clinical Center of Endocrinology and Gerontology, Department of Clinical Biochemistry, Skeletal Clinical Studies Unit, Laboratory of Pathology, National Institute of Neurological Disorders and Stroke, Department of Neurosurgery, Department of Pediatrics, Texas Children's Hospital, Centre Hospitalier Universitaire de Liège, University of Liège, Domaine Universitaire du Sart‐Tilman, 4000 Liège, Belgium

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Nadia Mazerkina Department of Endocrinology, Program on Developmental Endocrinology and Genetics, Helmholtz Zentrum München, Department of Molecular and Human Genetics, Department of Pediatric Endocrinology and Diabetes, Department of Clinical Genetics, Endocrinology and Diabetology Unit, Department of Endocrinology, Department of Paediatric Endocrinology, INSERM U 693, Pediatric Endocrinology Unit, Mater Medical Research Institute, Department of Endocrinology, Endocrinology and Diabetes Unit, Section of Endocrinology, Service d'Anatomie et Cytologie Pathologiques, INSERM Unité 1016, Institute of Pediatric Endocrinology, Burdenko Neurosurgery Institute, Department of Neurosurgery, Laboratorio Sabin, Section of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology and Diabetes, Department of Endocrinology, Clinical Center of Endocrinology and Gerontology, Department of Clinical Biochemistry, Skeletal Clinical Studies Unit, Laboratory of Pathology, National Institute of Neurological Disorders and Stroke, Department of Neurosurgery, Department of Pediatrics, Texas Children's Hospital, Centre Hospitalier Universitaire de Liège, University of Liège, Domaine Universitaire du Sart‐Tilman, 4000 Liège, Belgium

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Stéphan Gaillard Department of Endocrinology, Program on Developmental Endocrinology and Genetics, Helmholtz Zentrum München, Department of Molecular and Human Genetics, Department of Pediatric Endocrinology and Diabetes, Department of Clinical Genetics, Endocrinology and Diabetology Unit, Department of Endocrinology, Department of Paediatric Endocrinology, INSERM U 693, Pediatric Endocrinology Unit, Mater Medical Research Institute, Department of Endocrinology, Endocrinology and Diabetes Unit, Section of Endocrinology, Service d'Anatomie et Cytologie Pathologiques, INSERM Unité 1016, Institute of Pediatric Endocrinology, Burdenko Neurosurgery Institute, Department of Neurosurgery, Laboratorio Sabin, Section of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology and Diabetes, Department of Endocrinology, Clinical Center of Endocrinology and Gerontology, Department of Clinical Biochemistry, Skeletal Clinical Studies Unit, Laboratory of Pathology, National Institute of Neurological Disorders and Stroke, Department of Neurosurgery, Department of Pediatrics, Texas Children's Hospital, Centre Hospitalier Universitaire de Liège, University of Liège, Domaine Universitaire du Sart‐Tilman, 4000 Liège, Belgium

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Gustavo Barcelos Barra Department of Endocrinology, Program on Developmental Endocrinology and Genetics, Helmholtz Zentrum München, Department of Molecular and Human Genetics, Department of Pediatric Endocrinology and Diabetes, Department of Clinical Genetics, Endocrinology and Diabetology Unit, Department of Endocrinology, Department of Paediatric Endocrinology, INSERM U 693, Pediatric Endocrinology Unit, Mater Medical Research Institute, Department of Endocrinology, Endocrinology and Diabetes Unit, Section of Endocrinology, Service d'Anatomie et Cytologie Pathologiques, INSERM Unité 1016, Institute of Pediatric Endocrinology, Burdenko Neurosurgery Institute, Department of Neurosurgery, Laboratorio Sabin, Section of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology and Diabetes, Department of Endocrinology, Clinical Center of Endocrinology and Gerontology, Department of Clinical Biochemistry, Skeletal Clinical Studies Unit, Laboratory of Pathology, National Institute of Neurological Disorders and Stroke, Department of Neurosurgery, Department of Pediatrics, Texas Children's Hospital, Centre Hospitalier Universitaire de Liège, University of Liège, Domaine Universitaire du Sart‐Tilman, 4000 Liège, Belgium

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Luis Augusto Casulari Department of Endocrinology, Program on Developmental Endocrinology and Genetics, Helmholtz Zentrum München, Department of Molecular and Human Genetics, Department of Pediatric Endocrinology and Diabetes, Department of Clinical Genetics, Endocrinology and Diabetology Unit, Department of Endocrinology, Department of Paediatric Endocrinology, INSERM U 693, Pediatric Endocrinology Unit, Mater Medical Research Institute, Department of Endocrinology, Endocrinology and Diabetes Unit, Section of Endocrinology, Service d'Anatomie et Cytologie Pathologiques, INSERM Unité 1016, Institute of Pediatric Endocrinology, Burdenko Neurosurgery Institute, Department of Neurosurgery, Laboratorio Sabin, Section of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology and Diabetes, Department of Endocrinology, Clinical Center of Endocrinology and Gerontology, Department of Clinical Biochemistry, Skeletal Clinical Studies Unit, Laboratory of Pathology, National Institute of Neurological Disorders and Stroke, Department of Neurosurgery, Department of Pediatrics, Texas Children's Hospital, Centre Hospitalier Universitaire de Liège, University of Liège, Domaine Universitaire du Sart‐Tilman, 4000 Liège, Belgium

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Sebastian J Neggers Department of Endocrinology, Program on Developmental Endocrinology and Genetics, Helmholtz Zentrum München, Department of Molecular and Human Genetics, Department of Pediatric Endocrinology and Diabetes, Department of Clinical Genetics, Endocrinology and Diabetology Unit, Department of Endocrinology, Department of Paediatric Endocrinology, INSERM U 693, Pediatric Endocrinology Unit, Mater Medical Research Institute, Department of Endocrinology, Endocrinology and Diabetes Unit, Section of Endocrinology, Service d'Anatomie et Cytologie Pathologiques, INSERM Unité 1016, Institute of Pediatric Endocrinology, Burdenko Neurosurgery Institute, Department of Neurosurgery, Laboratorio Sabin, Section of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology and Diabetes, Department of Endocrinology, Clinical Center of Endocrinology and Gerontology, Department of Clinical Biochemistry, Skeletal Clinical Studies Unit, Laboratory of Pathology, National Institute of Neurological Disorders and Stroke, Department of Neurosurgery, Department of Pediatrics, Texas Children's Hospital, Centre Hospitalier Universitaire de Liège, University of Liège, Domaine Universitaire du Sart‐Tilman, 4000 Liège, Belgium

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Roberto Salvatori Department of Endocrinology, Program on Developmental Endocrinology and Genetics, Helmholtz Zentrum München, Department of Molecular and Human Genetics, Department of Pediatric Endocrinology and Diabetes, Department of Clinical Genetics, Endocrinology and Diabetology Unit, Department of Endocrinology, Department of Paediatric Endocrinology, INSERM U 693, Pediatric Endocrinology Unit, Mater Medical Research Institute, Department of Endocrinology, Endocrinology and Diabetes Unit, Section of Endocrinology, Service d'Anatomie et Cytologie Pathologiques, INSERM Unité 1016, Institute of Pediatric Endocrinology, Burdenko Neurosurgery Institute, Department of Neurosurgery, Laboratorio Sabin, Section of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology and Diabetes, Department of Endocrinology, Clinical Center of Endocrinology and Gerontology, Department of Clinical Biochemistry, Skeletal Clinical Studies Unit, Laboratory of Pathology, National Institute of Neurological Disorders and Stroke, Department of Neurosurgery, Department of Pediatrics, Texas Children's Hospital, Centre Hospitalier Universitaire de Liège, University of Liège, Domaine Universitaire du Sart‐Tilman, 4000 Liège, Belgium

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Marie-Lise Jaffrain-Rea Department of Endocrinology, Program on Developmental Endocrinology and Genetics, Helmholtz Zentrum München, Department of Molecular and Human Genetics, Department of Pediatric Endocrinology and Diabetes, Department of Clinical Genetics, Endocrinology and Diabetology Unit, Department of Endocrinology, Department of Paediatric Endocrinology, INSERM U 693, Pediatric Endocrinology Unit, Mater Medical Research Institute, Department of Endocrinology, Endocrinology and Diabetes Unit, Section of Endocrinology, Service d'Anatomie et Cytologie Pathologiques, INSERM Unité 1016, Institute of Pediatric Endocrinology, Burdenko Neurosurgery Institute, Department of Neurosurgery, Laboratorio Sabin, Section of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology and Diabetes, Department of Endocrinology, Clinical Center of Endocrinology and Gerontology, Department of Clinical Biochemistry, Skeletal Clinical Studies Unit, Laboratory of Pathology, National Institute of Neurological Disorders and Stroke, Department of Neurosurgery, Department of Pediatrics, Texas Children's Hospital, Centre Hospitalier Universitaire de Liège, University of Liège, Domaine Universitaire du Sart‐Tilman, 4000 Liège, Belgium

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Margaret Zacharin Department of Endocrinology, Program on Developmental Endocrinology and Genetics, Helmholtz Zentrum München, Department of Molecular and Human Genetics, Department of Pediatric Endocrinology and Diabetes, Department of Clinical Genetics, Endocrinology and Diabetology Unit, Department of Endocrinology, Department of Paediatric Endocrinology, INSERM U 693, Pediatric Endocrinology Unit, Mater Medical Research Institute, Department of Endocrinology, Endocrinology and Diabetes Unit, Section of Endocrinology, Service d'Anatomie et Cytologie Pathologiques, INSERM Unité 1016, Institute of Pediatric Endocrinology, Burdenko Neurosurgery Institute, Department of Neurosurgery, Laboratorio Sabin, Section of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology and Diabetes, Department of Endocrinology, Clinical Center of Endocrinology and Gerontology, Department of Clinical Biochemistry, Skeletal Clinical Studies Unit, Laboratory of Pathology, National Institute of Neurological Disorders and Stroke, Department of Neurosurgery, Department of Pediatrics, Texas Children's Hospital, Centre Hospitalier Universitaire de Liège, University of Liège, Domaine Universitaire du Sart‐Tilman, 4000 Liège, Belgium

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Beatriz Lecumberri Santamaria Department of Endocrinology, Program on Developmental Endocrinology and Genetics, Helmholtz Zentrum München, Department of Molecular and Human Genetics, Department of Pediatric Endocrinology and Diabetes, Department of Clinical Genetics, Endocrinology and Diabetology Unit, Department of Endocrinology, Department of Paediatric Endocrinology, INSERM U 693, Pediatric Endocrinology Unit, Mater Medical Research Institute, Department of Endocrinology, Endocrinology and Diabetes Unit, Section of Endocrinology, Service d'Anatomie et Cytologie Pathologiques, INSERM Unité 1016, Institute of Pediatric Endocrinology, Burdenko Neurosurgery Institute, Department of Neurosurgery, Laboratorio Sabin, Section of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology and Diabetes, Department of Endocrinology, Clinical Center of Endocrinology and Gerontology, Department of Clinical Biochemistry, Skeletal Clinical Studies Unit, Laboratory of Pathology, National Institute of Neurological Disorders and Stroke, Department of Neurosurgery, Department of Pediatrics, Texas Children's Hospital, Centre Hospitalier Universitaire de Liège, University of Liège, Domaine Universitaire du Sart‐Tilman, 4000 Liège, Belgium

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Sabina Zacharieva Department of Endocrinology, Program on Developmental Endocrinology and Genetics, Helmholtz Zentrum München, Department of Molecular and Human Genetics, Department of Pediatric Endocrinology and Diabetes, Department of Clinical Genetics, Endocrinology and Diabetology Unit, Department of Endocrinology, Department of Paediatric Endocrinology, INSERM U 693, Pediatric Endocrinology Unit, Mater Medical Research Institute, Department of Endocrinology, Endocrinology and Diabetes Unit, Section of Endocrinology, Service d'Anatomie et Cytologie Pathologiques, INSERM Unité 1016, Institute of Pediatric Endocrinology, Burdenko Neurosurgery Institute, Department of Neurosurgery, Laboratorio Sabin, Section of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology and Diabetes, Department of Endocrinology, Clinical Center of Endocrinology and Gerontology, Department of Clinical Biochemistry, Skeletal Clinical Studies Unit, Laboratory of Pathology, National Institute of Neurological Disorders and Stroke, Department of Neurosurgery, Department of Pediatrics, Texas Children's Hospital, Centre Hospitalier Universitaire de Liège, University of Liège, Domaine Universitaire du Sart‐Tilman, 4000 Liège, Belgium

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Ee Mun Lim Department of Endocrinology, Program on Developmental Endocrinology and Genetics, Helmholtz Zentrum München, Department of Molecular and Human Genetics, Department of Pediatric Endocrinology and Diabetes, Department of Clinical Genetics, Endocrinology and Diabetology Unit, Department of Endocrinology, Department of Paediatric Endocrinology, INSERM U 693, Pediatric Endocrinology Unit, Mater Medical Research Institute, Department of Endocrinology, Endocrinology and Diabetes Unit, Section of Endocrinology, Service d'Anatomie et Cytologie Pathologiques, INSERM Unité 1016, Institute of Pediatric Endocrinology, Burdenko Neurosurgery Institute, Department of Neurosurgery, Laboratorio Sabin, Section of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology and Diabetes, Department of Endocrinology, Clinical Center of Endocrinology and Gerontology, Department of Clinical Biochemistry, Skeletal Clinical Studies Unit, Laboratory of Pathology, National Institute of Neurological Disorders and Stroke, Department of Neurosurgery, Department of Pediatrics, Texas Children's Hospital, Centre Hospitalier Universitaire de Liège, University of Liège, Domaine Universitaire du Sart‐Tilman, 4000 Liège, Belgium

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Giovanna Mantovani Department of Endocrinology, Program on Developmental Endocrinology and Genetics, Helmholtz Zentrum München, Department of Molecular and Human Genetics, Department of Pediatric Endocrinology and Diabetes, Department of Clinical Genetics, Endocrinology and Diabetology Unit, Department of Endocrinology, Department of Paediatric Endocrinology, INSERM U 693, Pediatric Endocrinology Unit, Mater Medical Research Institute, Department of Endocrinology, Endocrinology and Diabetes Unit, Section of Endocrinology, Service d'Anatomie et Cytologie Pathologiques, INSERM Unité 1016, Institute of Pediatric Endocrinology, Burdenko Neurosurgery Institute, Department of Neurosurgery, Laboratorio Sabin, Section of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology and Diabetes, Department of Endocrinology, Clinical Center of Endocrinology and Gerontology, Department of Clinical Biochemistry, Skeletal Clinical Studies Unit, Laboratory of Pathology, National Institute of Neurological Disorders and Stroke, Department of Neurosurgery, Department of Pediatrics, Texas Children's Hospital, Centre Hospitalier Universitaire de Liège, University of Liège, Domaine Universitaire du Sart‐Tilman, 4000 Liège, Belgium

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Maria Chaira Zatelli Department of Endocrinology, Program on Developmental Endocrinology and Genetics, Helmholtz Zentrum München, Department of Molecular and Human Genetics, Department of Pediatric Endocrinology and Diabetes, Department of Clinical Genetics, Endocrinology and Diabetology Unit, Department of Endocrinology, Department of Paediatric Endocrinology, INSERM U 693, Pediatric Endocrinology Unit, Mater Medical Research Institute, Department of Endocrinology, Endocrinology and Diabetes Unit, Section of Endocrinology, Service d'Anatomie et Cytologie Pathologiques, INSERM Unité 1016, Institute of Pediatric Endocrinology, Burdenko Neurosurgery Institute, Department of Neurosurgery, Laboratorio Sabin, Section of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology and Diabetes, Department of Endocrinology, Clinical Center of Endocrinology and Gerontology, Department of Clinical Biochemistry, Skeletal Clinical Studies Unit, Laboratory of Pathology, National Institute of Neurological Disorders and Stroke, Department of Neurosurgery, Department of Pediatrics, Texas Children's Hospital, Centre Hospitalier Universitaire de Liège, University of Liège, Domaine Universitaire du Sart‐Tilman, 4000 Liège, Belgium

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Michael T Collins Department of Endocrinology, Program on Developmental Endocrinology and Genetics, Helmholtz Zentrum München, Department of Molecular and Human Genetics, Department of Pediatric Endocrinology and Diabetes, Department of Clinical Genetics, Endocrinology and Diabetology Unit, Department of Endocrinology, Department of Paediatric Endocrinology, INSERM U 693, Pediatric Endocrinology Unit, Mater Medical Research Institute, Department of Endocrinology, Endocrinology and Diabetes Unit, Section of Endocrinology, Service d'Anatomie et Cytologie Pathologiques, INSERM Unité 1016, Institute of Pediatric Endocrinology, Burdenko Neurosurgery Institute, Department of Neurosurgery, Laboratorio Sabin, Section of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology and Diabetes, Department of Endocrinology, Clinical Center of Endocrinology and Gerontology, Department of Clinical Biochemistry, Skeletal Clinical Studies Unit, Laboratory of Pathology, National Institute of Neurological Disorders and Stroke, Department of Neurosurgery, Department of Pediatrics, Texas Children's Hospital, Centre Hospitalier Universitaire de Liège, University of Liège, Domaine Universitaire du Sart‐Tilman, 4000 Liège, Belgium

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Jean-François Bonneville Department of Endocrinology, Program on Developmental Endocrinology and Genetics, Helmholtz Zentrum München, Department of Molecular and Human Genetics, Department of Pediatric Endocrinology and Diabetes, Department of Clinical Genetics, Endocrinology and Diabetology Unit, Department of Endocrinology, Department of Paediatric Endocrinology, INSERM U 693, Pediatric Endocrinology Unit, Mater Medical Research Institute, Department of Endocrinology, Endocrinology and Diabetes Unit, Section of Endocrinology, Service d'Anatomie et Cytologie Pathologiques, INSERM Unité 1016, Institute of Pediatric Endocrinology, Burdenko Neurosurgery Institute, Department of Neurosurgery, Laboratorio Sabin, Section of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology and Diabetes, Department of Endocrinology, Clinical Center of Endocrinology and Gerontology, Department of Clinical Biochemistry, Skeletal Clinical Studies Unit, Laboratory of Pathology, National Institute of Neurological Disorders and Stroke, Department of Neurosurgery, Department of Pediatrics, Texas Children's Hospital, Centre Hospitalier Universitaire de Liège, University of Liège, Domaine Universitaire du Sart‐Tilman, 4000 Liège, Belgium

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Martha Quezado Department of Endocrinology, Program on Developmental Endocrinology and Genetics, Helmholtz Zentrum München, Department of Molecular and Human Genetics, Department of Pediatric Endocrinology and Diabetes, Department of Clinical Genetics, Endocrinology and Diabetology Unit, Department of Endocrinology, Department of Paediatric Endocrinology, INSERM U 693, Pediatric Endocrinology Unit, Mater Medical Research Institute, Department of Endocrinology, Endocrinology and Diabetes Unit, Section of Endocrinology, Service d'Anatomie et Cytologie Pathologiques, INSERM Unité 1016, Institute of Pediatric Endocrinology, Burdenko Neurosurgery Institute, Department of Neurosurgery, Laboratorio Sabin, Section of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology and Diabetes, Department of Endocrinology, Clinical Center of Endocrinology and Gerontology, Department of Clinical Biochemistry, Skeletal Clinical Studies Unit, Laboratory of Pathology, National Institute of Neurological Disorders and Stroke, Department of Neurosurgery, Department of Pediatrics, Texas Children's Hospital, Centre Hospitalier Universitaire de Liège, University of Liège, Domaine Universitaire du Sart‐Tilman, 4000 Liège, Belgium

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Prashant Chittiboina Department of Endocrinology, Program on Developmental Endocrinology and Genetics, Helmholtz Zentrum München, Department of Molecular and Human Genetics, Department of Pediatric Endocrinology and Diabetes, Department of Clinical Genetics, Endocrinology and Diabetology Unit, Department of Endocrinology, Department of Paediatric Endocrinology, INSERM U 693, Pediatric Endocrinology Unit, Mater Medical Research Institute, Department of Endocrinology, Endocrinology and Diabetes Unit, Section of Endocrinology, Service d'Anatomie et Cytologie Pathologiques, INSERM Unité 1016, Institute of Pediatric Endocrinology, Burdenko Neurosurgery Institute, Department of Neurosurgery, Laboratorio Sabin, Section of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology and Diabetes, Department of Endocrinology, Clinical Center of Endocrinology and Gerontology, Department of Clinical Biochemistry, Skeletal Clinical Studies Unit, Laboratory of Pathology, National Institute of Neurological Disorders and Stroke, Department of Neurosurgery, Department of Pediatrics, Texas Children's Hospital, Centre Hospitalier Universitaire de Liège, University of Liège, Domaine Universitaire du Sart‐Tilman, 4000 Liège, Belgium

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Edward H Oldfield Department of Endocrinology, Program on Developmental Endocrinology and Genetics, Helmholtz Zentrum München, Department of Molecular and Human Genetics, Department of Pediatric Endocrinology and Diabetes, Department of Clinical Genetics, Endocrinology and Diabetology Unit, Department of Endocrinology, Department of Paediatric Endocrinology, INSERM U 693, Pediatric Endocrinology Unit, Mater Medical Research Institute, Department of Endocrinology, Endocrinology and Diabetes Unit, Section of Endocrinology, Service d'Anatomie et Cytologie Pathologiques, INSERM Unité 1016, Institute of Pediatric Endocrinology, Burdenko Neurosurgery Institute, Department of Neurosurgery, Laboratorio Sabin, Section of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology and Diabetes, Department of Endocrinology, Clinical Center of Endocrinology and Gerontology, Department of Clinical Biochemistry, Skeletal Clinical Studies Unit, Laboratory of Pathology, National Institute of Neurological Disorders and Stroke, Department of Neurosurgery, Department of Pediatrics, Texas Children's Hospital, Centre Hospitalier Universitaire de Liège, University of Liège, Domaine Universitaire du Sart‐Tilman, 4000 Liège, Belgium

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Vincent Bours Department of Endocrinology, Program on Developmental Endocrinology and Genetics, Helmholtz Zentrum München, Department of Molecular and Human Genetics, Department of Pediatric Endocrinology and Diabetes, Department of Clinical Genetics, Endocrinology and Diabetology Unit, Department of Endocrinology, Department of Paediatric Endocrinology, INSERM U 693, Pediatric Endocrinology Unit, Mater Medical Research Institute, Department of Endocrinology, Endocrinology and Diabetes Unit, Section of Endocrinology, Service d'Anatomie et Cytologie Pathologiques, INSERM Unité 1016, Institute of Pediatric Endocrinology, Burdenko Neurosurgery Institute, Department of Neurosurgery, Laboratorio Sabin, Section of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology and Diabetes, Department of Endocrinology, Clinical Center of Endocrinology and Gerontology, Department of Clinical Biochemistry, Skeletal Clinical Studies Unit, Laboratory of Pathology, National Institute of Neurological Disorders and Stroke, Department of Neurosurgery, Department of Pediatrics, Texas Children's Hospital, Centre Hospitalier Universitaire de Liège, University of Liège, Domaine Universitaire du Sart‐Tilman, 4000 Liège, Belgium

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Pengfei Liu Department of Endocrinology, Program on Developmental Endocrinology and Genetics, Helmholtz Zentrum München, Department of Molecular and Human Genetics, Department of Pediatric Endocrinology and Diabetes, Department of Clinical Genetics, Endocrinology and Diabetology Unit, Department of Endocrinology, Department of Paediatric Endocrinology, INSERM U 693, Pediatric Endocrinology Unit, Mater Medical Research Institute, Department of Endocrinology, Endocrinology and Diabetes Unit, Section of Endocrinology, Service d'Anatomie et Cytologie Pathologiques, INSERM Unité 1016, Institute of Pediatric Endocrinology, Burdenko Neurosurgery Institute, Department of Neurosurgery, Laboratorio Sabin, Section of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology and Diabetes, Department of Endocrinology, Clinical Center of Endocrinology and Gerontology, Department of Clinical Biochemistry, Skeletal Clinical Studies Unit, Laboratory of Pathology, National Institute of Neurological Disorders and Stroke, Department of Neurosurgery, Department of Pediatrics, Texas Children's Hospital, Centre Hospitalier Universitaire de Liège, University of Liège, Domaine Universitaire du Sart‐Tilman, 4000 Liège, Belgium

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Wouter W de Herder Department of Endocrinology, Program on Developmental Endocrinology and Genetics, Helmholtz Zentrum München, Department of Molecular and Human Genetics, Department of Pediatric Endocrinology and Diabetes, Department of Clinical Genetics, Endocrinology and Diabetology Unit, Department of Endocrinology, Department of Paediatric Endocrinology, INSERM U 693, Pediatric Endocrinology Unit, Mater Medical Research Institute, Department of Endocrinology, Endocrinology and Diabetes Unit, Section of Endocrinology, Service d'Anatomie et Cytologie Pathologiques, INSERM Unité 1016, Institute of Pediatric Endocrinology, Burdenko Neurosurgery Institute, Department of Neurosurgery, Laboratorio Sabin, Section of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology and Diabetes, Department of Endocrinology, Clinical Center of Endocrinology and Gerontology, Department of Clinical Biochemistry, Skeletal Clinical Studies Unit, Laboratory of Pathology, National Institute of Neurological Disorders and Stroke, Department of Neurosurgery, Department of Pediatrics, Texas Children's Hospital, Centre Hospitalier Universitaire de Liège, University of Liège, Domaine Universitaire du Sart‐Tilman, 4000 Liège, Belgium

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Natalia Pellegata Department of Endocrinology, Program on Developmental Endocrinology and Genetics, Helmholtz Zentrum München, Department of Molecular and Human Genetics, Department of Pediatric Endocrinology and Diabetes, Department of Clinical Genetics, Endocrinology and Diabetology Unit, Department of Endocrinology, Department of Paediatric Endocrinology, INSERM U 693, Pediatric Endocrinology Unit, Mater Medical Research Institute, Department of Endocrinology, Endocrinology and Diabetes Unit, Section of Endocrinology, Service d'Anatomie et Cytologie Pathologiques, INSERM Unité 1016, Institute of Pediatric Endocrinology, Burdenko Neurosurgery Institute, Department of Neurosurgery, Laboratorio Sabin, Section of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology and Diabetes, Department of Endocrinology, Clinical Center of Endocrinology and Gerontology, Department of Clinical Biochemistry, Skeletal Clinical Studies Unit, Laboratory of Pathology, National Institute of Neurological Disorders and Stroke, Department of Neurosurgery, Department of Pediatrics, Texas Children's Hospital, Centre Hospitalier Universitaire de Liège, University of Liège, Domaine Universitaire du Sart‐Tilman, 4000 Liège, Belgium

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James R Lupski Department of Endocrinology, Program on Developmental Endocrinology and Genetics, Helmholtz Zentrum München, Department of Molecular and Human Genetics, Department of Pediatric Endocrinology and Diabetes, Department of Clinical Genetics, Endocrinology and Diabetology Unit, Department of Endocrinology, Department of Paediatric Endocrinology, INSERM U 693, Pediatric Endocrinology Unit, Mater Medical Research Institute, Department of Endocrinology, Endocrinology and Diabetes Unit, Section of Endocrinology, Service d'Anatomie et Cytologie Pathologiques, INSERM Unité 1016, Institute of Pediatric Endocrinology, Burdenko Neurosurgery Institute, Department of Neurosurgery, Laboratorio Sabin, Section of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology and Diabetes, Department of Endocrinology, Clinical Center of Endocrinology and Gerontology, Department of Clinical Biochemistry, Skeletal Clinical Studies Unit, Laboratory of Pathology, National Institute of Neurological Disorders and Stroke, Department of Neurosurgery, Department of Pediatrics, Texas Children's Hospital, Centre Hospitalier Universitaire de Liège, University of Liège, Domaine Universitaire du Sart‐Tilman, 4000 Liège, Belgium
Department of Endocrinology, Program on Developmental Endocrinology and Genetics, Helmholtz Zentrum München, Department of Molecular and Human Genetics, Department of Pediatric Endocrinology and Diabetes, Department of Clinical Genetics, Endocrinology and Diabetology Unit, Department of Endocrinology, Department of Paediatric Endocrinology, INSERM U 693, Pediatric Endocrinology Unit, Mater Medical Research Institute, Department of Endocrinology, Endocrinology and Diabetes Unit, Section of Endocrinology, Service d'Anatomie et Cytologie Pathologiques, INSERM Unité 1016, Institute of Pediatric Endocrinology, Burdenko Neurosurgery Institute, Department of Neurosurgery, Laboratorio Sabin, Section of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology and Diabetes, Department of Endocrinology, Clinical Center of Endocrinology and Gerontology, Department of Clinical Biochemistry, Skeletal Clinical Studies Unit, Laboratory of Pathology, National Institute of Neurological Disorders and Stroke, Department of Neurosurgery, Department of Pediatrics, Texas Children's Hospital, Centre Hospitalier Universitaire de Liège, University of Liège, Domaine Universitaire du Sart‐Tilman, 4000 Liège, Belgium
Department of Endocrinology, Program on Developmental Endocrinology and Genetics, Helmholtz Zentrum München, Department of Molecular and Human Genetics, Department of Pediatric Endocrinology and Diabetes, Department of Clinical Genetics, Endocrinology and Diabetology Unit, Department of Endocrinology, Department of Paediatric Endocrinology, INSERM U 693, Pediatric Endocrinology Unit, Mater Medical Research Institute, Department of Endocrinology, Endocrinology and Diabetes Unit, Section of Endocrinology, Service d'Anatomie et Cytologie Pathologiques, INSERM Unité 1016, Institute of Pediatric Endocrinology, Burdenko Neurosurgery Institute, Department of Neurosurgery, Laboratorio Sabin, Section of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology and Diabetes, Department of Endocrinology, Clinical Center of Endocrinology and Gerontology, Department of Clinical Biochemistry, Skeletal Clinical Studies Unit, Laboratory of Pathology, National Institute of Neurological Disorders and Stroke, Department of Neurosurgery, Department of Pediatrics, Texas Children's Hospital, Centre Hospitalier Universitaire de Liège, University of Liège, Domaine Universitaire du Sart‐Tilman, 4000 Liège, Belgium

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Adrian F Daly Department of Endocrinology, Program on Developmental Endocrinology and Genetics, Helmholtz Zentrum München, Department of Molecular and Human Genetics, Department of Pediatric Endocrinology and Diabetes, Department of Clinical Genetics, Endocrinology and Diabetology Unit, Department of Endocrinology, Department of Paediatric Endocrinology, INSERM U 693, Pediatric Endocrinology Unit, Mater Medical Research Institute, Department of Endocrinology, Endocrinology and Diabetes Unit, Section of Endocrinology, Service d'Anatomie et Cytologie Pathologiques, INSERM Unité 1016, Institute of Pediatric Endocrinology, Burdenko Neurosurgery Institute, Department of Neurosurgery, Laboratorio Sabin, Section of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology and Diabetes, Department of Endocrinology, Clinical Center of Endocrinology and Gerontology, Department of Clinical Biochemistry, Skeletal Clinical Studies Unit, Laboratory of Pathology, National Institute of Neurological Disorders and Stroke, Department of Neurosurgery, Department of Pediatrics, Texas Children's Hospital, Centre Hospitalier Universitaire de Liège, University of Liège, Domaine Universitaire du Sart‐Tilman, 4000 Liège, Belgium

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Constantine A Stratakis Department of Endocrinology, Program on Developmental Endocrinology and Genetics, Helmholtz Zentrum München, Department of Molecular and Human Genetics, Department of Pediatric Endocrinology and Diabetes, Department of Clinical Genetics, Endocrinology and Diabetology Unit, Department of Endocrinology, Department of Paediatric Endocrinology, INSERM U 693, Pediatric Endocrinology Unit, Mater Medical Research Institute, Department of Endocrinology, Endocrinology and Diabetes Unit, Section of Endocrinology, Service d'Anatomie et Cytologie Pathologiques, INSERM Unité 1016, Institute of Pediatric Endocrinology, Burdenko Neurosurgery Institute, Department of Neurosurgery, Laboratorio Sabin, Section of Endocrinology, Department of Endocrinology, Department of Endocrinology, Department of Endocrinology and Diabetes, Department of Endocrinology, Clinical Center of Endocrinology and Gerontology, Department of Clinical Biochemistry, Skeletal Clinical Studies Unit, Laboratory of Pathology, National Institute of Neurological Disorders and Stroke, Department of Neurosurgery, Department of Pediatrics, Texas Children's Hospital, Centre Hospitalier Universitaire de Liège, University of Liège, Domaine Universitaire du Sart‐Tilman, 4000 Liège, Belgium

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X-linked acrogigantism (X-LAG) is a new syndrome of pituitary gigantism, caused by microduplications on chromosome Xq26.3, encompassing the gene GPR101, which is highly upregulated in pituitary tumors. We conducted this study to explore the clinical, radiological, and hormonal phenotype and responses to therapy in patients with X-LAG syndrome. The study included 18 patients (13 sporadic) with X-LAG and microduplication of chromosome Xq26.3. All sporadic cases had unique duplications and the inheritance pattern in two families was dominant, with all Xq26.3 duplication carriers being affected. Patients began to grow rapidly as early as 2–3 months of age (median 12 months). At diagnosis (median delay 27 months), patients had a median height and weight standard deviation scores (SDS) of >+3.9 SDS. Apart from the increased overall body size, the children had acromegalic symptoms including acral enlargement and facial coarsening. More than a third of cases had increased appetite. Patients had marked hypersecretion of GH/IGF1 and usually prolactin, due to a pituitary macroadenoma or hyperplasia. Primary neurosurgical control was achieved with extensive anterior pituitary resection, but postoperative hypopituitarism was frequent. Control with somatostatin analogs was not readily achieved despite moderate to high levels of expression of somatostatin receptor subtype-2 in tumor tissue. Postoperative use of adjuvant pegvisomant resulted in control of IGF1 in all five cases where it was employed. X-LAG is a new infant-onset gigantism syndrome that has a severe clinical phenotype leading to challenging disease management.

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