%0 Case Reports
%T Semaglutide as a potential treatment for obesity in Smith-Kingsmore syndrome (SKS) patients: A mosaic mutation case report.
%A Bonnet JB
%A Durieux AT
%A Tournayre S
%A Marty L
%A Sultan A
%A Avignon A
%J Obes Res Clin Pract
%V 18
%N 2
%D 2024 Mar-Apr 5
%M 38582735
%F 5.214
%R 10.1016/j.orcp.2024.03.009
%X We present for the first-time efficacy and tolerability of GLP-1-RA (Semaglutide) in Smith-Kingsmore syndrome (SKS). SKS is a rare genetic disorder characterized by intellectual disability, macrocephaly, seizures and distinctive facial features due to MTOR gene mutation. We present a 22-year-old woman with mosaic SKS and severe obesity (Body Mass Index ≥40 kg/m²), treated with semaglutide. She achieved a 9 kg (7.44%) weight loss over 12 months without adverse effects.This case highlights semaglutide's potential in managing obesity in SKS patients, emphasizing the need for further research in this rare genetic disorder.