ArticleThe Journal of clinical endocrinology and metabolism2025
Effectiveness of the Dual GIP/GLP1-Agonist Tirzepatide in 2 Cases of Alström Syndrome, a Rare Obesity Syndrome.
Article in The Journal of clinical endocrinology and metabolism, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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6 citing papers in PubMed.
- Alström syndrome in a Chinese girl: a case report and literature review.Translational pediatrics · 2026Article
- Case Report: Identification of two novelFrontiers in genetics · 2026Article
- Efficacy and safety of semaglutide for obesity and hyperphagia in adults with Prader-Willi syndrome.Frontiers in endocrinology · 2026Observational
- Efficacy of Semaglutide in Pediatric Patients With Bardet-Biedl Syndrome and Alström Syndrome.JCEM case reports · 2025Article
- Endocrine metabolism characteristics of Alström syndrome in 25 Chinese patients and identification of a new splice site in the ALMS1 gene.Diabetology & metabolic syndrome · 2025Article
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7 authors.
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Abstract
contextTirzepatide, a dual glucose-dependent insulinotropic peptide/glucagon-like peptide 1 (GIP/GLP1) receptor agonist, was recently approved for type 2 diabetes and weight management. Alström syndrome (AS) is a rare, genetic, multisystemic disorder, characterized by cone-rod dystrophy, progressive hearing loss, obesity, and diabetes with profound insulin resistance due to marked hyperphagia.
objectiveHere we highlight the potential of tirzepatide as a novel therapeutic option for improving glycemic outcomes, metabolic dysfunction-associated steatotic liver disease (MASLD), and effectively reducing body weight in individuals with AS.
methodsWe present the first 2 reported cases of people living with AS treated with tirzepatide.
resultsTwo individuals with AS, previously treated with semaglutide, received tirzepatide at our clinic. The first, a 23-year-old man with 18 months of treatment, experienced a weight loss of -28 kg (113.6 to 83 kg, -26.9%); glycated hemoglobin A1c decreased by -0.4% (6.7% to 6.3%), with considerable reductions in daily insulin doses of -96 IU/day (-83%; 58 to 20 IU insulin glargine and 58 to 0 IU prandial insulin), while maintaining oral antidiabetics. Hepatic steatosis, with a previous fat fraction of 20%, resolved as confirmed by magnetic resonance imaging (MRI). The second, a 20-year-old man with previously well-controlled diabetes, was followed up for 9 months and showed a weight reduction of -9.5 kg (132 kg to 122.5 kg; -7.2%) with a reduction of hepatic lipid content from 21% at the latest MRI to 11% after approximately 3 months of therapy.
conclusionTirzepatide shows great effectiveness with regard to body weight, MASLD, and insulin resistance in AS. Follow-up studies with larger cohorts have to be performed to confirm these findings.
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