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Endocrine Abstracts

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ea0063p492 | Calcium and Bone 2 | ECE2019

Hyperparathyroidism in patients with X-linked hypophosphatemia

Lecoq Anne-Lise , Chaumet-Riffaud Philippe , Blanchard Anne , Rothenbuhler Anya , Lambert Benoit , Bay Alexandrine , Silve Caroline , Piketty Marie , Chanson Philippe , Brailly-Tabard Sylvie , Linglart Agnes , Kamenicky Peter

Background: X-linked hypophosphatemia (XLH) is a rachitic disorder characterized by renal tubular phosphate wasting resulting from increased circulating activity of the fibroblast growth factor FGF23. Secondary and tertiary hyperparathyroidism have been reported in XLH patients in small retrospective studies, however this complication has never been systematically evaluated in a large cohort.Aim of the study: To compare parathyroid function of adult XLH ...
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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 Cushing’s 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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Published by BioScientifica

Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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