hrp0095fc4.1 | Fat, Metabolism and Obesity | ESPE2022

Natural History of LEP, LEPR and MC4R Deficiencies – A Population-Based Study

Saeed Sadia , Manzoor Jaida , Khanam Roohia , Janjua Qasim , Ning Lijiao , Ayesha Hina , Khan Waqas , Bonnefond Amélie , Hanook Sharoon , Butt Taeed , Arslan Muhammad , Froguel Philippe

Background: Proteins encoded by LEP, LEPR and MC4R genes are principally involved in driving the leptin-melanocortin pathway. Mutations in these genes induce a rare and severe form of monogenic obesity but the long-term evolution of these afflictions is unknown. Here, we carried out a clinical investigation on 132 children with LEP, LEPR and MC4R deficiency from Pakistan to evaluate progression of the disease and its impact on co-mor...