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CASE REPORT article

Front. Endocrinol.
Sec. Pediatric Endocrinology
Volume 15 - 2024 | doi: 10.3389/fendo.2024.1467364

Atypical diabetes arising from SHORT syndrome: a case report

Provisionally accepted
Aili Wang Aili Wang Miao Xu Miao Xu Li Li Li Li Jialin Li Jialin Li *
  • Department of Endocrinology and Metabolism, Ningbo First Hospital, Ningbo, China

The final, formatted version of the article will be published soon.

    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: SHORT syndrome, PIK3R1, Whole-exome sequencing, Insulin Resistance, therapy

    Received: 19 Jul 2024; Accepted: 19 Nov 2024.

    Copyright: © 2024 Wang, Xu, Li and Li. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

    * Correspondence: Jialin Li, Department of Endocrinology and Metabolism, Ningbo First Hospital, Ningbo, China

    Disclaimer: All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.