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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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.826–1.830 0.30842 0.717 0.361–1.426 0.34152 1.116 0.759–1.639 0.57718 Significant associations were initially observed in the sporadic MEN1-related, sporadic pituitary adenoma and sporadic ACTH-secreting pituitary adenomas (corticotropinomas

Article Type:
Research Article
DOI:
https://doi.org/10.1530/ERC-13-0486
Volume/Issue:
Volume 21: Issue 3
Free access
Laura C Hernández-Ramírez Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, Maryland, USA

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Ryhem Gam Laboratoire de Génétique Moléculaire, Institut de Recherches Cliniques de Montréal (IRCM), Montréal, Québec, Canada

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Nuria Valdés Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, Maryland, USA
Service of Endocrinology and Nutrition, Hospital Universitario Central de Asturias, Instituto Universitario de Oncología del Principado de Asturias, Universidad de Oviedo, Oviedo, Spain

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Maya B Lodish Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, Maryland, USA

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Nathan Pankratz Department of Laboratory Medicine and Pathology, University of Minnesota Medical School, Minneapolis, Minnesota, USA

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Aurelio Balsalobre Laboratoire de Génétique Moléculaire, Institut de Recherches Cliniques de Montréal (IRCM), Montréal, Québec, Canada

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Yves Gauthier Laboratoire de Génétique Moléculaire, Institut de Recherches Cliniques de Montréal (IRCM), Montréal, Québec, Canada

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Fabio R Faucz Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, Maryland, USA

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Giampaolo Trivellin Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, Maryland, USA

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Prashant Chittiboina Surgical Neurology Branch, National Institute of Neurological Disorders and Stroke (NINDS), National Institutes of Health (NIH), Bethesda, Maryland, USA

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John Lane Department of Laboratory Medicine and Pathology, University of Minnesota Medical School, Minneapolis, Minnesota, USA

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Denise M Kay Newborn Screening Program, Wadsworth Center, New York State Department of Health, Albany, New York, USA

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Aggeliki Dimopoulos Division of Intramural Population Health Research, Epidemiology Branch, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, Maryland, USA

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Stephan Gaillard Institut Cochin, INSERM U1016, CNRS UMR8104, Université Paris Descartes, Paris, France
Department of Neurosurgery, Hôpital Foch, Suresnes, France

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Mario Neou Institut Cochin, INSERM U1016, CNRS UMR8104, Université Paris Descartes, Paris, France

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Jérôme Bertherat Institut Cochin, INSERM U1016, CNRS UMR8104, Université Paris Descartes, Paris, France
Service d’Endocrinologie, Cochin Hospital, Assistance Publique Hôpitaux de Paris, Paris, France

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Guillaume Assié Institut Cochin, INSERM U1016, CNRS UMR8104, Université Paris Descartes, Paris, France
Service d’Endocrinologie, Cochin Hospital, Assistance Publique Hôpitaux de Paris, Paris, France

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Chiara Villa Institut Cochin, INSERM U1016, CNRS UMR8104, Université Paris Descartes, Paris, France
Department of Pathological Cytology and Anatomy, Hôpital Foch, Suresnes, France
Department of Endocrinology, CHU de Liège, University of Liège, Liège, Belgium

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James L Mills Division of Intramural Population Health Research, Epidemiology Branch, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, Maryland, USA

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Jacques Drouin Laboratoire de Génétique Moléculaire, Institut de Recherches Cliniques de Montréal (IRCM), Montréal, Québec, Canada

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Constantine A Stratakis Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, Maryland, USA

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tumors, corticotropinomas are infrequent in patients with ‘classic’ multiple endocrine neoplasia and have rarely been described in the setting of familial isolated pituitary adenoma (FIPA) ( Stratakis et al. 2010 , Cazabat et al. 2012 ). Consequently

Article Type:
Research Article
DOI:
https://doi.org/10.1530/ERC-17-0131
Volume/Issue:
Volume 24: Issue 8
Open access
Giampaolo Trivellin Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, Maryland, USA

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Ricardo R Correa Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, Maryland, USA
Endocrinology Training Programs, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, Maryland, USA

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Maria Batsis Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, Maryland, USA
Endocrinology Training Programs, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, Maryland, USA

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Fabio R Faucz Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, Maryland, USA

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Prashant Chittiboina Surgical Neurology Branch, National Institute of Neurological Diseases and Stroke (NINDS), National Institutes of Health (NIH), Bethesda, Maryland, USA

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Ivana Bjelobaba Section on Cellular Signaling, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, Maryland, USA

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Darwin O Larco Department of Obstetrics and Gynecology, Uniformed Services University of the Health Sciences, Bethesda, Maryland, USA

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Martha Quezado Laboratory of Pathology, National Cancer Institute (NCI), National Institutes of Health (NIH), Bethesda, Maryland, USA

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Adrian F Daly Department of Endocrinology and Clinical Genetics, Centre Hospitalier Universitaire de Liège, University of Liège, Domaine Universitaire du Sart-Tilman, Liège, Belgium

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Stanko S Stojilkovic Section on Cellular Signaling, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, Maryland, USA

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T John Wu Department of Obstetrics and Gynecology, Uniformed Services University of the Health Sciences, Bethesda, Maryland, USA

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Albert Beckers Department of Endocrinology and Clinical Genetics, Centre Hospitalier Universitaire de Liège, University of Liège, Domaine Universitaire du Sart-Tilman, Liège, Belgium

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Maya B Lodish Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, Maryland, USA
Endocrinology Training Programs, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, Maryland, USA

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Constantine A Stratakis Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, Maryland, USA
Endocrinology Training Programs, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, Maryland, USA

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Introduction Cushing’s disease (CD) affects approximately 70% of patients with endogenous Cushing’s syndrome ( Tritos & Biller 2014 ). CD is caused by adrenocorticotropic hormone (ACTH)-secreting pituitary adenomas (corticotropinomas) ( Newell

Article Type:
Research Article
DOI:
https://doi.org/10.1530/ERC-16-0091
Volume/Issue:
Volume 23: Issue 5
Free access
Donatella Treppiedi Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy

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Genesio Di Muro Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy

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Giusy Marra Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy

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Anna Maria Barbieri Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy

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Federica Mangili Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy

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Rosa Catalano Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy

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Andreea Serban Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, Endocrinology Unit, Milan, Italy

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Emanuele Ferrante Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, Endocrinology Unit, Milan, Italy

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Marco Locatelli Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy
Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, Neurosurgery Unit, Milan, Italy

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Andrea G Lania Humanitas Clinical and Research Center IRCCS, Endocrinology, Diabetology and Medical Andrology Unit, Milan, Italy
Department of Biomedical Sciences, Humanitas University, Milan, Italy

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Maura Arosio Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy
Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, Endocrinology Unit, Milan, Italy

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Anna Spada Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy

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Erika Peverelli Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy

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Giovanna Mantovani Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy
Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, Endocrinology Unit, Milan, Italy

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al. 2014 ). Thanks to its high affinity to the most expressed somatostatin receptor on corticotropinomas – somatostatin receptor type 5 (SST5) – ( Hofland et al. 2005 , Batista et al. 2006 , Hofland 2008 , Tateno et al. 2009 ) pasireotide

Article Type:
Research Article
DOI:
https://doi.org/10.1530/ERC-21-0093
Volume/Issue:
Volume 28: Issue 8
Restricted access
Paraskevi Xekouki Centre for Craniofacial and Regenerative Biology, King’s College London, London, UK
Department of Endocrinology, King’s College Hospital NHS Foundation Trust, London, UK

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Emily J Lodge Centre for Craniofacial and Regenerative Biology, King’s College London, London, UK
Department of Endocrinology and Diabetes, King’s College London, London, UK

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Jakob Matschke Institute of Neuropathology, University Hospital Hamburg-Eppendorf, Hamburg, Germany

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Alice Santambrogio Centre for Craniofacial and Regenerative Biology, King’s College London, London, UK
Department of Internal Medicine III, Carl Gustav Carus Medical School, Technical University of Dresden, Dresden, Germany

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John R Apps Birth Defects Research Centre, Developmental Biology and Cancer Programme, UCL Great Ormond Street Institute of Child Health, University College London, London, UK
Histopathology Department, Great Ormond Street Hospital NHS Trust, London, UK

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Ariane Sharif Laboratory of Development and Plasticity of the Neuroendocrine Brain, Inserm U1172, Jean-Pierre Aubert Research Centre, Lille, France

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Thomas S Jacques Birth Defects Research Centre, Developmental Biology and Cancer Programme, UCL Great Ormond Street Institute of Child Health, University College London, London, UK
Histopathology Department, Great Ormond Street Hospital NHS Trust, London, UK

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Simon Aylwin Department of Endocrinology, King’s College Hospital NHS Foundation Trust, London, UK

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Vincent Prevot Laboratory of Development and Plasticity of the Neuroendocrine Brain, Inserm U1172, Jean-Pierre Aubert Research Centre, Lille, France

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Ran Li Department of Neurosurgery, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, People’s Republic of China

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Jörg Flitsch Department of Neurosurgery, Hamburg University Medical Center, Hamburg, Germany

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Stefan R Bornstein Department of Endocrinology and Diabetes, King’s College London, London, UK
Department of Internal Medicine III, Carl Gustav Carus Medical School, Technical University of Dresden, Dresden, Germany

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Marily Theodoropoulou Medizinische Klinik und Poliklinik IV, Ludwig-Maximilians-Universität München, Munich, Germany

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Cynthia L Andoniadou Centre for Craniofacial and Regenerative Biology, King’s College London, London, UK
Department of Internal Medicine III, Carl Gustav Carus Medical School, Technical University of Dresden, Dresden, Germany

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-cell pituitary tumours, 16 prolactinomas, one PRL-secreting carcinoma ( Winkelmann et al. 2002 ), 18 corticotropinomas and 10 somatotropinomas. Examples of confirmatory testing for these cohorts are provided in Supplementary Fig. 2 (see section on

Article Type:
Research Article
DOI:
https://doi.org/10.1530/ERC-18-0330
Volume/Issue:
Volume 26: Issue 1
Open access
Rami Alrezk The National Institute of Diabetes and Digestive and Kidney Diseases National Institutes of Health, Bethesda, Maryland, USA

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Fady Hannah-Shmouni Section on Endocrinology & Genetics the Eunice Kennedy Shriver National Institute of Child Health and Human Development, NIH, Bethesda, Maryland, USA

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Constantine A Stratakis Section on Endocrinology & Genetics the Eunice Kennedy Shriver National Institute of Child Health and Human Development, NIH, Bethesda, Maryland, USA

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years and in which LOH of wild-type CDKN1B was observed. The patient also had a corticotropinoma causing Cushing disease at 46 years of age, and PHPT that was diagnosed a year later ( Georgitsi et al . 2007 ). This second report further expanded the

Article Type:
Review Article
DOI:
https://doi.org/10.1530/ERC-17-0243
Volume/Issue:
Volume 24: Issue 10
Free access
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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45 two-member heterogeneous FIPA families. The four-member family presented with one corticotropinoma, one prolactinoma, and two somatotropinomas and the three-member family presented with two somatotropinomas and one nonfunctioning pituitary adenoma

Article Type:
Research Article
DOI:
https://doi.org/10.1530/ERC-11-0362
Volume/Issue:
Volume 19: Issue 3
Free access
Catherine Goudie Division of Hematology-Oncology, Department of Pediatrics, The Hospital for Sick Children, Toronto, Canada

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Fady Hannah-Shmouni Section on Endocrinology and Genetics The Eunice Kennedy Shriver Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA

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Mahmure Kavak Department of Pharmacology and Toxicology, University of Toronto, Toronto, Canada

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Constantine A Stratakis Section on Endocrinology and Genetics The Eunice Kennedy Shriver Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA

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William D Foulkes Department of Human Genetics, Research Institute of the McGill University Health Centre, and Lady Davis Institute, Jewish General Hospital, McGill University, Montreal, Canada

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; # somatomammotropinoma; % corticotropinoma; ! prolactinoma; & non-functional adenoma. ACA, adrenocortical adenoma; ACC, adrenocortical carcinoma; ACT, adrenocortical tumour; ALL, acute lymphoblastic leukaemia; CALs, café-au-lait spots; CBME, ciliary body

Article Type:
Review Article
DOI:
https://doi.org/10.1530/ERC-18-0160
Volume/Issue:
Volume 25: Issue 8
Free access
Vladimir Vasilev Department of Endocrinology, Centre Hospitalier Universitaire de Liège, University of Liège, Liège, Belgium
Department of Endocrinology, Medical University, Sofia, Bulgaria

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Adrian F Daly Department of Endocrinology, Centre Hospitalier Universitaire de Liège, University of Liège, Liège, Belgium

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Giampaolo Trivellin Section on Endocrinology and Genetics Program on Developmental Endocrinology & Genetics (PDEGEN) & Pediatric Endocrinology Inter-Institute Training Program, Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD) National Institutes of Health (NIH), Bethesda, Maryland, USA

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Constantine A Stratakis Section on Endocrinology and Genetics Program on Developmental Endocrinology & Genetics (PDEGEN) & Pediatric Endocrinology Inter-Institute Training Program, Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD) National Institutes of Health (NIH), Bethesda, Maryland, USA

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Sabina Zacharieva Department of Endocrinology, Medical University, Sofia, Bulgaria

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Albert Beckers Department of Endocrinology, Centre Hospitalier Universitaire de Liège, University of Liège, Liège, Belgium

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, Beckers et al . 2018 ). Although these first records concerned only acromegaly, by the 1990s several kindreds with familial corticotropinomas, prolactinomas and non-functioning pituitary adenomas (NFPA) had also been reported ( Salti & Mufarrij 1981

Article Type:
Review Article
DOI:
https://doi.org/10.1530/ERC-20-0015
Volume/Issue:
Volume 27: Issue 8
Free access
Giampaolo Trivellin Section on Genetics & Endocrinology (SEGEN) Intramural Research Program (IRP), Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD), Bethesda, Maryland, USA

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Fabio R Faucz Section on Genetics & Endocrinology (SEGEN) Intramural Research Program (IRP), Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD), Bethesda, Maryland, USA

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Adrian F Daly Department of Endocrinology, Centre Hospitalier Universitaire de Liège, University of Liège, Liège, Belgium

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Albert Beckers Department of Endocrinology, Centre Hospitalier Universitaire de Liège, University of Liège, Liège, Belgium

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Constantine A Stratakis Section on Genetics & Endocrinology (SEGEN) Intramural Research Program (IRP), Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD), Bethesda, Maryland, USA

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nonsynonymous SNVs were also detected in other types of pituitary tumors, such as prolactinomas and corticotropinomas. Two heterozygous missense SNVs affecting highly conserved amino acids, c.974C>T (p.T325I) and c.1294C>T (p.P432S), were found in one

Article Type:
Review Article
DOI:
https://doi.org/10.1530/ERC-20-0025
Volume/Issue:
Volume 27: Issue 8
Free access