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Article

Heterozygous Insulin Receptor (INSR) Mutation Associated with Neonatal Hyperinsulinemic Hypoglycaemia and Familial Diabetes Mellitus: Case Series

Journal of clinical research in pediatric endocrinology - 25 Nov 2020

Sethi Aashish, Foulds Nicola, Ehtisham Sarah, Ahmed Syed Haris, Houghton Jayne, Colclough Kevin, Didi Mohammed, Flanagan Sarah E., Senniappan Senthil

Abstract excerpt

Mutations in the insulin receptor (INSR) gene are associated with insulin resistance and hyperglycaemia. Various autosomal dominant heterozygous INSR mutations leading to hyperinsulinemic hypoglycaemia (HH) have been described in adults and children (more than 3 years of age) but not in the neonatal period. Family 1: A small for gestational age (SGA) child born to a mother with gestational diabetes presented with...

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Identifiers

PMID: 31989990
DOI: 10.4274/jcrpe.galenos.2019.2019.0106
PMCID: PMC7711633

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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