ESPE Abstracts

Background: Genetic factors play an important role in determining individual susceptibility to weight gain and obesity. In the last few years, several genetic variants have been identified as causative of monogenic/syndromic forms of obesity, mainly involved in the hypothalamic leptin-melanocortin pathways (LMP) that regulates food intake and energy homeostasis.Methods: Pediatric patients (<18 years) with severe obesi...

Introduction: Genetic factors play an important role in determining individual susceptibility to weight gain and obesity. In the last few years, several genetic variants have been identified as monogenic forms of obesity. Among them, Leptin (LEP) and its receptor on hypothalamic neurons (LEPR) are key players in the regulation of body weight, food intake and energy homeostasis. Pathogenic variants in the LEPR gene cause severe childhood-onset obesity with an a...