hrp0084p2-378 | Fat | ESPE2015

Early-Onset Obesity and Adrenal Insufficiency Associated with a Homozygous POMC Mutation

Meloni Antonella , Casini Maria Rosaria , Del Giudice Emanuele Miraglia , Boccone Loredana

Background: Isolated hypocortisolism due to ACTH deficiency is a rare condition that can be caused by mutations in the gene encoding pro-opiomelanocortin (POMC). POMC is the precursor to bioactive peptides (ACTH, β-endorphin, and α-β-γ-MSH). Mutations that inactive POMC typically result in secondary adrenal insufficiency, severe obesity and red hair; fewer than 50 affected individuals have been reported in the literature.Case presenta...