High morbidity and mortality in children with untreated congenital deficiency of leptin or its receptor

• DOI: 10.1016/j.xcrm.2023.101187
• Publication Date: 2023-09-01T14:27:16Z
• Authors: 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
• Keywords: Leptin; morbidity; age-related changes; mortality; 3. Good health; Obesity, Morbid; [SDV] Life Sciences [q-bio]; consanguinity; Cross-Sectional Studies; leptin-signaling deficiency; body growth; Report; oxidative stress; Humans; Morbidity; Child; metabolism; monogenic obesity; Retrospective Studies

The long-term clinical outcomes of severe obesity due to leptin signaling deficiency are unknown. We carry out a retrospective cross-sectional investigation large cohort children with (LEP), LEP receptor (LEPR), or melanocortin 4 (MC4R) (n = 145) evaluate the progression disease. affected individuals undergo physical, clinical, and metabolic evaluations. report very high mortality in (26%) LEPR (9%), mainly pulmonary gastrointestinal infections. In addition, 40% surviving experience life-threatening episodes lung Although precision drugs currently available for deficiencies, as yet, they not accessible Pakistan. An appreciation impact on morbidity early mortality, educational attainment, attendant stigmatization should spur efforts deliver life-saving these matter urgency.