CABLES1 gene mutations and copy number variations (CNV) in a large group of patients with Cushing’s disease (CD). Materials and methods Pediatric Cushing’s disease cohort We studied 146 pediatric (<18 years at diagnosis) patients with CD who
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Laura C Hernández-Ramírez, Ryhem Gam, Nuria Valdés, Maya B Lodish, Nathan Pankratz, Aurelio Balsalobre, Yves Gauthier, Fabio R Faucz, Giampaolo Trivellin, Prashant Chittiboina, John Lane, Denise M Kay, Aggeliki Dimopoulos, Stephan Gaillard, Mario Neou, Jérôme Bertherat, Guillaume Assié, Chiara Villa, James L Mills, Jacques Drouin, and Constantine A Stratakis
Adriana Albani, Luis Gustavo Perez-Rivas, Sicheng Tang, Julia Simon, Kristin Elisabeth Lucia, Paula Colón-Bolea, Jochen Schopohl, Sigrun Roeber, Michael Buchfelder, Roman Rotermund, Jörg Flitsch, Jun Thorsteinsdottir, Jochen Herms, Günter Stalla, Martin Reincke, and Marily Theodoropoulou
Introduction Cushing’s disease is caused by corticotroph tumours and is the most common form of endogenous hypercortisolism ( Newell-Price et al. 2006 , Lacroix et al. 2015 ). Chronic exposure to elevated cortisol levels is associated
Elena Valassi, Frédéric Castinetti, Amandine Ferriere, Stylianos Tsagarakis, Richard A Feelders, Romana T Netea-Maier, Michael Droste, Christian J Strasburger, Dominique Maiter, Darko Kastelan, Philippe Chanson, Susan M Webb, Frank Demtröder, Valdis Pirags, Olivier Chabre, Holger Franz, Alicia Santos, and Martin Reincke
Introduction Transsphenoidal surgery (TSS), the treatment of choice for Cushing’s disease (CD), is not always curative ( Nieman et al. 2015 ). Persistent hypercortisolism due to incomplete removal of an adrenocorticotropic hormone (ACTH
K E Lines, P Filippakopoulos, M Stevenson, S Müller, H E Lockstone, B Wright, S Knapp, D Buck, C Bountra, and R V Thakker
hypercortisolemia causes Cushing’s disease, whose clinical features include obesity, redistribution of adipose tissue, muscle atrophy with preclinical myopathy, diabetes mellitus, hypertension, osteoporosis, subfertility, skin thinning, depression, psychosis and
Giampaolo Trivellin, Ricardo R Correa, Maria Batsis, Fabio R Faucz, Prashant Chittiboina, Ivana Bjelobaba, Darwin O Larco, Martha Quezado, Adrian F Daly, Stanko S Stojilkovic, T John Wu, Albert Beckers, Maya B Lodish, and Constantine A Stratakis
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
Donatella Treppiedi, Genesio Di Muro, Giusy Marra, Anna Maria Barbieri, Federica Mangili, Rosa Catalano, Andreea Serban, Emanuele Ferrante, Marco Locatelli, Andrea G Lania, Maura Arosio, Anna Spada, Erika Peverelli, and Giovanna Mantovani
Introduction Cushing’s disease (CD) is a severe disorder characterized by hypercortisolism in most cases due to adrenocorticotropic hormone (ACTH) oversecretion from a pituitary corticotroph tumor ( Newell-Price et al. 2006 ). Chronic
Luis G Perez-Rivas, Andrea Oßwald, Thomas Knösel, Kristin Lucia, Christian Schaaf, Michael Hristov, Julia Fazel, Thomas Kirchner, Felix Beuschlein, Martin Reincke, and Marily Theodoropoulou
mutated in 50% of all the investigated ACTH-producing corticotroph adenomas causing sporadic Cushing’s disease ( Ma et al. 2015 , Perez-Rivas et al. 2015 , Reincke et al. 2015 ). Mutant USP8 triggers POMC transcription and ACTH secretion through
Reut Halperin, Liat Arnon, Sapir Nasirov, Limor Friedensohn, Michal Gershinsky, Alona Telerman, Eitan Friedman, Rinat Bernstein-Molho, and Amit Tirosh
manifestation. Most PitAd (71.4%) were functioning: 7 secreted adrenocorticotrophic hormone leading to Cushing’s disease, 4 secreted growth hormone leading to acromegaly, and 4 were prolactin-secreting adenomas. Overall, microadenomas (71.4%) were more prevalent
Sylvia L Asa, Walter Kucharczyk, and Shereen Ezzat
adenomas of Cushing’s disease . European Journal of Endocrinology 174 213– 226 . ( doi:10.1530/eje-15-0689 ) Heck A Ringstad G Fougner SL Casar-Borota O Nome T Ramm-Pettersen J Bollerslev J 2012 Intensity of pituitary adenoma on T2
S L Asa, O Casar-Borota, P Chanson, E Delgrange, P Earls, S Ezzat, A Grossman, H Ikeda, N Inoshita, N Karavitaki, M Korbonits, E R Laws Jr, M B Lopes, N Maartens, I E McCutcheon, O Mete, H Nishioka, G Raverot, F Roncaroli, W Saeger, L V Syro, A Vasiljevic, C Villa, A Wierinckx, J Trouillas, and and the attendees of 14th Meeting of the International Pituitary Pathology Club, Annecy, France, November 2016
small and minimally proliferative lesions cause the severe metabolic dysfunction of Cushing’s disease or acromegaly. Many are large and invasive neoplasms that cause significant morbidity due to mass effects, with or without hormone excess syndromes