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 - Takeaways - 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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  • 1

    Type A insulin resistance syndrome (TAIRS) is caused by mutations in the insulin receptor (INSR) gene and is characterized by severe insulin resistance.

  • 2

    The case study reports a 12-year-old female with a novel INSR mutation, presenting with hyperinsulinemia, hyperandrogenism, and acanthosis nigricans.

  • 3

    Whole-exome sequencing identified a de novo heterozygous variant in the INSR gene, classified as 'likely pathogenic' according to ACMG guidelines.

  • 4

    TAIRS can be misdiagnosed as polycystic ovary syndrome (PCOS), especially in adolescent females with atypical features.

  • 5

    Long-term management of TAIRS requires individualized strategies, including pharmacological treatment and dietary interventions.

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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