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Article

Detection of hepatocyte nuclear factor 4A(HNF4A) gene variant as the cause for congenital hyperinsulinism leads to revision of the diagnosis of the mother.

Journal of pediatric endocrinology & metabolism : JPEM - 27 Apr 2021

Vlachopapadopoulou Elpis-Athina, Dikaiakou Eirini, Fotiadou Anatoli, Sifianou Popi, Tatsi Elizabeth Barbara, Sertedaki Amalia, Kanaka-Gantenbein Christina, Michalacos Stefanos

Abstract excerpt

OBJECTIVES: Congenital Hyperinsulinism (CHI) is the most common cause of persistent hypoketotic hypoglycaemia in neonates and infants. It is a genetic disorder with both familial and sporadic forms. CASE PRESENTATION: In this study, we examined two unrelated infants of diabetic mothers (IDMs) presented with HH. DNA sequencing (Sanger and NGS panel) identified pathogenic variants of the Hepatocyte Nuclear Factor...

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Identifiers

PMID: 33031054
DOI: 10.1515/jpem-2020-0302

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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