hrp0097p1-459 | Fat, Metabolism and Obesity | ESPE2023

Digestive manifestations are frequent in iPPSD/Pseudohypoparathyroidism

Goy Berenice , Rothenbuhler Anya , Audrain Christelle , Berkenou Jugurtha , Linglart Agnes , Dubern Beatrice

Introduction: Pseudohypoparathyroidism (hereafter named iPPSD for inactivating PTH/PTHrP Disorder) is a rare disease characterized by hormonal resistance including PTH, subcutaneous ossifications, short stature, brachymetacarpy and early onset obesity. iPPSD type 2 and 3 are caused by genetic or epigenetic variations in the GNAS gene or its promoters. Although uncommon features have been identified such as severe asthma or sleep apnea, digestive manifestations...