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Article

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.

Archives of endocrinology and metabolism - 29 Jan 2024

Koca Serkan Bilge, Kulali Melike Ataseven, Göğüş Başak, Demirbilek Hüseyin

Abstract excerpt

Mutations in the insulin receptor (INSR) gene may present with variable clinical phenotypes. We report herein a novel heterozygous INSR mutation in an adolescent girl with type A insulin resistance syndrome and her mother.The index case was a 12-year-old girl without obesity who presented with excessive hair growth, especially in the chest and back area, and hyperpigmentation on the back of the neck (acanthosis...

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Identifiers

PMID: 38289143
DOI: 10.20945/2359-4292-2021-0305
PMCID: PMC10948035

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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