A case of SHORT syndrome with a novel genetic mutation diagnosed 19 years after the onset of diabetes.

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 c

SUBMITTER: Tajima K 

PROVIDER: S-EPMC12315255 | biostudies-literature | 2025 Aug

REPOSITORIES: biostudies-literature