hrp0097p1-82 | Fat, Metabolism and Obesity | ESPE2023

Leptin receptor’s mutation in a patient with childhood obesity and hyperphagia

Partenope Cristina , Dondi Elena , De Marchi Irene , Antoniotti Valentina , Monteleone Giorgia , Bianco Carlo , Montafia Ilaria , Pagliero Federica , Aquisti Giulia , Petri Antonella , Rabbone Ivana , Prodam Flavia , Bellone Simonetta

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...