Atypical diabetes arising from SHORT syndrome: a case report.
| Autor: | Wang A; Department of Endocrinology and Metabolism, The First Affiliated Hospital of Ningbo University, Ningbo, Zhejiang, China.; Health Science Center, Ningbo University, Ningbo, Zhejiang, China., Xu M; Department of Endocrinology and Metabolism, The First Affiliated Hospital of Ningbo University, Ningbo, Zhejiang, China., Li L; Department of Endocrinology and Metabolism, The First Affiliated Hospital of Ningbo University, Ningbo, Zhejiang, China., Li J; Department of Endocrinology and Metabolism, The First Affiliated Hospital of Ningbo University, Ningbo, Zhejiang, China. |
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| Jazyk: | angličtina |
| Zdroj: | Frontiers in endocrinology [Front Endocrinol (Lausanne)] 2024 Dec 13; Vol. 15, pp. 1467364. Date of Electronic Publication: 2024 Dec 13 (Print Publication: 2024). |
| DOI: | 10.3389/fendo.2024.1467364 |
| Abstrakt: | 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. Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest. (Copyright © 2024 Wang, Xu, Li and Li.) |
| Databáze: | MEDLINE |
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