Sadia Saeed, Roohia Khanam, Qasim M Janjua, Jaida Manzoor, Lijiao Ning, Sharoon Hanook, Mickaël Canouil, Muhammad Ali, Hina Ayesha, Waqas I Khan, I Sadaf Farooqi, Giles S H Yeo, Stephen O'Rahilly, Amélie Bonnefond, Taeed A Butt, Muhammad Arslan, Philippe Froguel
The long-term clinical outcomes of severe obesity due to leptin signaling deficiency are unknown. We carry out a retrospective cross-sectional investigation of a large cohort of children with leptin (LEP), LEP receptor (LEPR), or melanocortin 4 receptor (MC4R) deficiency (n = 145) to evaluate the progression of the disease. The affected individuals undergo physical, clinical, and metabolic evaluations. We report a very high mortality in children with LEP (26%) or LEPR deficiency (9%), mainly due to severe pulmonary and gastrointestinal infections...
August 29, 2023: Cell reports medicine