Atypical diabetes arising from SHORT syndrome: a case report

Front Endocrinol (Lausanne). 2024 Dec 13:15:1467364. doi: 10.3389/fendo.2024.1467364. eCollection 2024.

Abstract

Short stature, joint hyperextension, ocular hypotension, Rieger abnormalities, and delayed tooth eruption (SHORT) syndrom is a rare primary autosomal dominant genetic disorder mainly caused by pathogenic loss-of-function variants in the phosphoinositide-3-kinase regulatory subunit 1 (PIK3R1) gene. We report the case of a Chinese adult female patient with SHORT syndrome, carrying a PIK3R1 gene variant (c.1945C > T), who developed abnormal glucose metabolism and severe postprandial insulin resistance over 9 years. Although there are currently no established treatment guidelines for insulin resistance in patients with SHORT syndrome, we implemented a comprehensive treatment plan, including lifestyle interventions, metformin, and voglibose for glucose control. After 6 months of continuous observation, the patient's blood glucose levels and insulin resistance improved significantly. This case study provides useful insights for future treatment strategies.

Keywords: PIK3R1; SHORT syndrome; insulin resistance; therapy; whole-exome sequencing.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Blood Glucose / metabolism
  • Class Ia Phosphatidylinositol 3-Kinase / genetics
  • Diabetes Mellitus* / genetics
  • Female
  • Growth Disorders* / genetics
  • Humans
  • Hypercalcemia* / genetics
  • Insulin Resistance
  • Nephrocalcinosis* / genetics
  • Tooth Abnormalities* / genetics

Substances

  • Blood Glucose
  • Class Ia Phosphatidylinositol 3-Kinase
  • PIK3R1 protein, human

Supplementary concepts

  • SHORT syndrome

Grants and funding

The author(s) declare financial support was received for the research, authorship, and/or publication of this article. This work was supported by the Medical Health Science and Technology Project of Zhejiang Province (Grant No. 2024KY1521) and Ningbo Key Clinical Specialty (Endocrinology) (Grant No. 2022-B07).