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Article

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.

Frontiers in endocrinology - 1 Jan 2026

Ji Chunmin, Zheng Xiaojun, Wang Quanxing, Chen Zhongyun

Abstract excerpt

Background: Type A insulin resistance syndrome (TAIRS) is a rare inherited disorder caused by mutations in the insulin receptor (INSR) gene. It is characterized by severe insulin resistance, hyperandrogenism, and acanthosis nigricans. Its clinical manifestations overlap with those of polycystic ovary syndrome (PCOS), making it prone to misdiagnosis, particularly in adolescent females. Currently, the diagnosis of...

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Identifiers

PMID: 42272804
DOI: 10.3389/fendo.2026.1840942
PMCID: PMC13246354

Genes

INSR

Variants

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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.PMID 42272804Read ↗

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A novel insulin receptor mutation in an adolescent with acanthosis nigricans and hyperandrogenism.Semantic proximity Read ↗

Hereditary Severe Insulin-resistance Syndrome and Acanthosis Nigricans Caused by Novel Mutations in the INSR GeneSemantic proximity Read ↗

Type A insulin resistance syndrome due to a novel heterozygous c.3486_3503del (p.Arg1163_Ala1168del) INSR gene mutation in an adolescent girl and her mother.Semantic proximity Read ↗

INSR novel mutations identified in a Chinese family with severe INSR-related insulin resistance syndromes: A case report.Semantic proximity Read ↗

Insulin receptor variants: Extending the traditional Mendelian spectrum.Semantic proximity Read ↗

Can obesity exacerbate hyperinsulinaemia in the presence of the mutation of an insulin receptor gene?Semantic proximity Read ↗

Clinical and Functional Characterization of Novel INSR Variants in Two Families With Severe Insulin Resistance SyndromeSemantic proximity Read ↗

Clinical characteristics of adolescent cases with Type A insulin resistance syndrome caused by heterozygous mutations in the β‐subunit of the insulin receptor (INSR) geneSemantic proximity Read ↗

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