hrp0095fc4.1 | Fat, Metabolism and Obesity | ESPE2022
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...