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

Obes Res Clin Pract · 2024

Last updated 2026-05-28

A 22-year-old woman with a rare genetic disorder called Smith-Kingsmore syndrome (SKS) and severe obesity lost 9 kilograms (7.44% of her body weight) over 12 months while taking semaglutide, a GLP-1 drug, without experiencing any side effects. This is the first reported case showing that semaglutide may help with weight loss in people with SKS, but more research is needed.

AI summary of the abstract below.

JournalObes Res Clin Pract, 2024
Citations0
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Molecules semaglutide
Conditions studied Obesity

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.

Verbatim abstract via PubMed 38582735 ↗

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