A novel presentation of a His1157Arg INSR mutation in male half-siblings with type A insulin resistance: A case report
Year: 2025
Type: article
Study design: Case Report
Abstract: Type A insulin resistance, a rare disorder resulting from mutations in the INSR gene, exhibits a wide range of clinical presentations. We report two male half-siblings with a His1157Arg missense mutation in exon 19 of the INSR gene. Patient 1 presented with hyperglycemia and features resembling type 1 diabetes, without acanthosis nigricans. In contrast, patient 2 exhibited characteristics typically seen in children diagnosed with type 2 diabetes, including obesity and acanthosis. Genetic testing confirmed the shared pathogenic mutation. Their divergent phenotypes underscore the heterogeneity of type A insulin resistance and highlight the critical role of genetic testing in atypical diabetes cases. Targeted therapy with metformin, glucagon-like peptide-1 receptor agonists, and sodium-glucose co-transporter 2 inhibitors improved glycemic control in both patients.
Source: Gene & Protein in Disease
Authors: Kaci Wirthwein, Evan Los
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: hybrid
OpenAlex ID: W4414486286
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