Searchable abstracts of presentations at key conferences in endocrinology

ea0081ep356 | Diabetes, Obesity, Metabolism and Nutrition | ECE2022

A unique family with early-onset, severe obesity and hypopituitarism harboring different POMC pathogenic mutations.

Le Collen Lauriane , Delemer Brigitte , Poitou-Bernert Christine , Martine Vaxillaire , Michel Petit Jean , Alexandru Saveanu , Karine Clement , Philippe Froguel , Amelie Bonnefond

Objective: We describe two first cousins presenting with neonatal corticotropic deficiency and severe, early-onset obesity. This study aims to identify the molecular etiology of these disorders in both cases and highlights the limits of genetic investigations.Methods: We collected the clinical-biological data of the family and, more particularly, of the two first cousins (A and B). We performed several constitutive Next-generation Sequencing (NGS) protoc...