Semaglutide as a potential treatment for obesity in Smith-Kingsmore syndrome (SKS) patients: A mosaic mutation case report

Obes Res Clin Pract. 2024 Mar-Apr;18(2):159-162. doi: 10.1016/j.orcp.2024.03.009. Epub 2024 Apr 6.

Abstract

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.

Keywords: GLP-1; Obesity; Semaglutide; Smith-Kingsmore syndrome.

Publication types

  • Case Reports

MeSH terms

  • Body Mass Index
  • Female
  • Glucagon-Like Peptides* / therapeutic use
  • Humans
  • Intellectual Disability / drug therapy
  • Intellectual Disability / genetics
  • Mutation
  • Obesity / complications
  • Obesity / drug therapy
  • Obesity, Morbid
  • TOR Serine-Threonine Kinases
  • Treatment Outcome
  • Weight Loss / drug effects
  • Young Adult

Substances

  • Glucagon-Like Peptides
  • semaglutide
  • TOR Serine-Threonine Kinases
  • MTOR protein, human