ea0081ep356 | Diabetes, Obesity, Metabolism and Nutrition | ECE2022
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...