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Article

Genetic and Clinical Characterisation of Congenital Hyperinsulinism: Identification of a Novel ABCC8 Variant.

Clinical endocrinology - 1 Mar 2026

Qadir Ajaz, Shah Idrees A, Mir Mohd Rafi, Sofi Javid Ahmad, Radha Venkatesan, Mohan Viswanathan, Ganie Shahid Ahmad, Ganie Mohd Ashraf

Abstract excerpt

BACKGROUND: Congenital hyperinsulinism (CHI) is a rare but significant cause of persistent hypoglycemia in neonates and infants. Mutations in several genes, including ABCC8 and KCNJ11, are known to cause CHI. However, data on CHI from our region remain limited. PURPOSE: To assess the genetic spectrum, clinical characteristics, and outcomes of patients with CHI. METHODS: This was a single-centre observational...

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Congenital Hyperinsulinism
ABCC8 gene
Genetic Testing
Infant
Infant, Newborn

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Potassium Channels, Inwardly Rectifying

Sulfonylurea Receptors

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Identifiers

PMID: 41486515
DOI: 10.1111/cen.70091

Genes

ABCC8
KCNJ11

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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