Scientific Programme & Abstracts from the International Meeting in Pediatric Endocrinology (IMPE)

impe0096p60 | Fat, Metabolism and Obesity | IMPE2023

Clinical Characteristics of Variants in POMC, PCSK1, LEPR, NCOA1, and SH2B1

Argente Jesús , Farooqi Sadaf , van den Akker Erica , Malhotra Sonali , Kühnen Peter , Clément Karine , Wabitsch Martin

Introduction: The melanocortin-4 receptor (MC4R) pathway is an important regulator of energy balance and body weight. Several key genes are associated with the MC4R pathway, including POMC, PCSK1, LEPR, NCOA1, and SH2B1. These genes work in concert within the hypothalamus to regulate leptin signaling and activation of MC4R. However, the molecular mechanisms of these genes and the clinical characteristics of individu...