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In this case report, a novel heterozygous mutation in the insulin receptor gene was identified in an adolescent girl with type A insulin resistance syndrome, characterized by excessive hair growth and skin changes, and her mother.

In this study, researchers found that a specific genetic variant in the INSR gene is linked to severe insulin resistance and hyperandrogenemia in type A insulin resistance syndrome, suggesting the benefit of exon sequencing for accurate diagnosis and treatment.

In this study, researchers found that while most genetic variants analyzed were not associated with PCOS in Polish women, the INSR rs1799817 polymorphism may be linked to acne, a symptom of the disorder.

This study identified several rare genetic variants related to insulin resistance in women with PCOS, highlighting the potential for monogenic conditions in patients with extreme or atypical phenotypes.

This study found that the INSR His1058 C/T SNP does not increase the risk of developing PCOS among Kashmiri women.