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Article

Severe congenital hyperinsulinism with progressive neurological deterioration due to novel HADH-GHSR digenic mutations: the first case report.

Pediatric endocrinology, diabetes, and metabolism - 1 Jan 2025

Laaraje Azzeddine, Radi Abdelilah, Agadr Aomar, Abilkassem Rachid

Abstract excerpt

Congenital hyperinsulinism (CHI) represents a complex group of genetic disorders causing inappropriate insulin secretion. We report the first case of severe CHI caused by a novel combination of HADH and GHSR mutations, leading to an unusually severe neurological phenotype. A male infant presented at 24 days of life with severe hypoglycemic seizures (0.3 mmol/l), inappropriate hyperinsulinemia (10.31 µUI/ml), and...

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Identifiers

PMID: 41693194
DOI: 10.5114/pedm.2025.153731
PMCID: PMC12928141

Genes

GHSR
HADH

Variants

Provenance

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

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