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Article

Birth weight and diazoxide unresponsiveness strongly predict the likelihood of congenital hyperinsulinism due to a mutation in ABCC8 or KCNJ11.

European journal of endocrinology - 30 Oct 2021

Hewat Thomas I, Yau Daphne, Jerome Joseph C S, Laver Thomas W, Houghton Jayne A L, Shields Beverley M, Flanagan Sarah E, Patel Kashyap A

Abstract excerpt

OBJECTIVE: Mutations in the KATP channel genes, ABCC8 and KCNJ11, are the most common cause of congenital hyperinsulinism. The diagnosis of KATP-hyperinsulinism is important for the clinical management of the condition. We aimed to determine the clinical features that help to identify KATP-hyperinsulinism at diagnosis. DESIGN: We studied 761 individuals with KATP-hyperinsulinism and 862 probands with...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 34633981
DOI: 10.1530/EJE-21-0476
PMCID: PMC7611977

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.

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