Tajima Kumiko, Hirota Yushi, Takayoshi Tomofumi, Ogawa Wataru
Department of Internal Medicine, Japan Community Health Care Organization Gunma Central Hospital, Maebashi, Japan.
Division of Diabetes and Endocrinology, Department of Internal Medicine, Kobe University Graduate School of Medicine, Kobe, Japan.
J Diabetes Investig. 2025 Aug;16(8):1561-1565. doi: 10.1111/jdi.70088. Epub 2025 May 27.
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.
一名33岁男性，身材矮小，体型消瘦，有听力障碍、里格尔异常以及腹股沟疝病史。他还表现出特征性面容，包括三角脸、小下巴、深陷的眼睛和低位耳。他出生时患有宫内生长受限，并在青春期患糖尿病，需要高剂量胰岛素治疗。19年来一直未得到准确诊断。我们对胰岛素受体基因和PIK3R1基因的第11 - 16外显子进行了直接测序，在PIK3R1基因中鉴定出一个c.1957A>T突变（p.Lys653*），从而确诊为SHORT综合征。对于表现出SHORT综合征某些典型症状的个体，怀疑该综合征可能有助于准确诊断并实现对这种疾病的有效管理。
