hrp0095p1-65 | Fat, Metabolism and Obesity | ESPE2022

Congenital Leptin Receptor deficiency: An Indian family with novel Homozygous LEPR gene mutation (LEPR):c.1752G>A (P.Lys584=) presenting with severe early onset obesity

Patil Prashant , Sakina Rajgara Dr , Vidya Thakur Dr

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...