hrp0097p1-273 | Fat, Metabolism and Obesity | ESPE2023

Congenital Leptin Receptor deficiency: A Novel LEPR gene mutation (LEPR):c.1752G>A (p.Lys584=) in an Indian family producing severe early onset monogenic obesity

Patil Prashant , Monterio Joewin

Introduction: Congenital deficiency of the leptin receptor is an extremely rare cause of early-onset monogenic obesity with rapid weight gain and compulsive overeating. LEPR mutations is responsible for extreme form of obesity associated with other endocrine abnormalities and respiratory tract infection. Till date, approximately 50 families have been reported to have mutations in the leptin receptor gene.Case: 9-year-old...