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ea0022oc4.3 | Adrenals | ECE2010

Novel mutations in the glucocorticoid receptor gene: from familial bilateral adrenal hyperplasia to glucocorticoid receptor haploinsufficiency

Young Jacques , Trabado Severine , Bouligand Jerome , Amazit Larbi , Viengchareun Say , Guiochon-Mantel Anne , Delemer Brigitte , Lombes Marc

Glucocorticoid receptor (GR or NR3C1) is a ligand-dependent transcription factor that plays an essential role in differentiation, development, inflammatory responses and energy balance and is implicated in several human diseases. Eleven germinal GR mutations have been described so far, responsible for glucocorticoid resistance with variable clinical presentation.We report original heterozygous GR mutations in three independent patients, which have been i...

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ea0081oc2.3 | Oral Communications 2: Adrenal and Cardiovascular Endocrinology 1 | ECE2022

Loss of lysine demethylase KDM1A in GIP-dependent bilateral macronodular adrenal hyperplasia with Cushing’s syndrome

Chasseloup Fanny , Bourdeau Isabelle , Tabarin Antoine , Regazzo Daniela , Dumontet Charles , Ladurelle Nataly , Tosca Lucie , Amazit Larbi , Proust Alexis , Scharfmann Raphael , Fiore Frederic , Tsagarakis Stylianos , Vassiliadi Dimitra , Maiter Dominique , Young Jacques , Lecoq Anne-Lise , Demeocq Vianney , Salenave Sylvie , Lefebvre Herve , Cloix Lucie , Emy Philippe , Desailloud Rachel , Vezzosi Delphine , Scaroni Carla , Barbot Mattia , de Herder Wouter , Pattou Francois , Tetreault Martine , Corbeil Gilles , Dupeux Margot , Lambert Benoit , Tachdjian Gerard , Guiochon-Mantel Anne , Beau Isabelle , Chanson Philippe , Viengchareun Say , Lacroix Andre , Bouligand Jerome , Kamenicky Peter

Context: Primary bilateral macronodular adrenal hyperplasia (PBMAH) with glucose-dependent insulinotropic polypeptide (GIP)-dependent Cushings syndrome is caused by ectopic expression of GIP receptor in the adrenal tissue. The bilateral nature of this adrenal disease suggests germline genetic predisposition. We aimed to identify the molecular driver event responsible for ectopic GIP receptor expression in PBMAH.Methods: We conducted an internationa...

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Endocrine Abstracts

Novel mutations in the glucocorticoid receptor gene: from familial bilateral adrenal hyperplasia to glucocorticoid receptor haploinsufficiency

Loss of lysine demethylase KDM1A in GIP-dependent bilateral macronodular adrenal hyperplasia with Cushing’s syndrome

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