A Case Report: Treatment, follow-up, and literature review of type A insulin resistance syndrome caused by a De Novo INSR c.3328G>C mutation - Summary - MDSpire
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A Case Study: Management, Follow-Up, and Review of Literature on Type A Insulin Resistance Syndrome Due to a Novel INSR c.3328G>C Mutation

  • By

  • Chunmin Ji

  • Xiaojun Zheng

  • Quanxing Wang

  • Zhongyun Chen

  • May 26, 2026

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Objective:

To report a case of Type A insulin resistance syndrome (TAIRS) due to a novel mutation in the INSR gene and to review the literature on TAIRS.

Key Findings:
  • The proband exhibited severe insulin resistance and hyperandrogenism despite a non-obese phenotype.
  • The identified INSR gene mutation was absent in family members, indicating a de novo occurrence.
  • Long-term management of TAIRS requires individualized, multidisciplinary strategies.
Interpretation:

The case highlights the role of genetic testing in adolescents with atypical PCOS features and severe hyperinsulinemia.

Limitations:
  • The study is based on a single case report, limiting generalizability.
  • Long-term outcomes of the management strategies are not reported.
Conclusion:

This case expands the known pathogenic variant spectrum of the INSR gene.

Original Source(s)

A Case Report: Treatment, follow-up, and literature review of type A insulin resistance syndrome caused by a De Novo INSR c.3328G>C mutation

  • by Chunmin Ji, Xiaojun Zheng, Quanxing Wang, Zhongyun Chen

  • May 26, 2026

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