ArticleJournal of diabetes investigation2025
A case of SHORT syndrome with a novel genetic mutation diagnosed 19 years after the onset of diabetes.
Article in Journal of diabetes investigation, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
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Who cites it
1 citing paper in PubMed.
- Diabetes mellitus in SHORT syndrome managed with multi-agent oral therapies: a case report and literature review.Therapeutic advances in endocrinology and metabolism · 2025Article
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Authors and funding
4 authors.
Funding
Abstract
A 33-year-old man presented with short stature, thin build, hearing impairment, Rieger anomaly, and a history of inguinal hernia. He also exhibited characteristic facies, including a triangular face with a small chin, deeply set eyes, and low-set ears. He was born with intrauterine growth restriction and developed diabetes during adolescence, requiring high-dose insulin therapy. For 19 years, an accurate diagnosis was not made. We performed direct sequencing of the insulin receptor gene and exons 11-16 of the PIK3R1 gene, identifying a c.1957A>T mutation (p.Lys653*) in the PIK3R1 gene, which confirmed a diagnosis of SHORT syndrome. Suspecting SHORT syndrome in individuals who exhibit some of its typical symptoms may facilitate an accurate diagnosis and enable effective management of this condition.
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