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Article

Hereditary Severe Insulin-resistance Syndrome and Acanthosis Nigricans Caused by Novel Mutations in the INSR Gene

Journal of clinical research in pediatric endocrinology - 1 Jul 2026

Chongyang Chen, Yangting Zhao, Kai Li, Xiaoyu Lv, Yawen Wang, Donghu Zhen, Songbo Fu, Lihua Ma, Liyuan Zhou, Jingfang Liu

Abstract excerpt

Most cases of hereditary severe insulin-resistance syndrome (H-SIRS) are linked to mutations in the insulin receptor (INSR) gene. Patients with H-SIRS typically manifest symptoms of hyperinsulinemia, insulin resistance, and diabetes mellitus. Other symptoms include impaired glucose regulation, hyperandrogenism, and the presence of acanthosis nigricans (AN). In this report, we present two cases of H-SIRS in female...

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Source

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Identifiers

PMID: 38952179
DOI: 10.4274/jcrpe.galenos.2024.2024-2-14
PMCID: PMC13325959

Genes

INSR

Variants

Provenance

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.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

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