Hyperinsulinemic hypoglycemia due to pathogenic INSR variants: metabolic signature, phenotypic overlap, and semidominant inheritance.

doi:10.3389/fendo.2026.1716020

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Article

Hyperinsulinemic hypoglycemia due to pathogenic INSR variants: metabolic signature, phenotypic overlap, and semidominant inheritance.

Frontiers in endocrinology - 1 Jan 2026

Marcelino do Nascimento Ramon, Dos Santos Andrey, Guadagnini Dioze, de Santana Lucas Santos, Santomauro Augusto Cezar Junior, Gouveia Buff Passone Caroline, Gurgel Teles Bezerra Milena, Gomes Larissa Garcia, Corrêa-Giannella Maria Lucia, Nery Marcia, Abdalla Saad Mario José, Lourenço Delmar Muniz Junior, Albergaria Pereira Maria Adelaide

Abstract excerpt

Objective: Familial hyperinsulinemic hypoglycemia type 5 (HHF5) and type A insulin resistance syndrome (TAIRS) are autosomal dominant disorders caused by heterozygous pathogenic variants in the insulin receptor gene (INSR), whereas Rabson-Mendenhall syndrome (RMS) and Donohue syndrome (DS) result from recessive inheritance. We aimed to characterize the metabolic, phenotypic, and genotypic spectrum of individuals...

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Identifiers

PMID: 42181197
DOI: 10.3389/fendo.2026.1716020
PMCID: PMC13191600

Genes

INSR
F5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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