Clinical and genetic heterogeneity of HNF4A/HNF1A mutations in a multicentre paediatric cohort with hyperinsulinaemic hypoglycaemia


McGlacken-Byrne S. M., Mohammad J. K., Conlon N., Gubaeva D., Siersbaek J., Schou A. J., ...More

EUROPEAN JOURNAL OF ENDOCRINOLOGY, vol.186, no.4, pp.417-427, 2022 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 186 Issue: 4
  • Publication Date: 2022
  • Doi Number: 10.1530/eje-21-0897
  • Journal Name: EUROPEAN JOURNAL OF ENDOCRINOLOGY
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, PASCAL, Aquatic Science & Fisheries Abstracts (ASFA), BIOSIS, CAB Abstracts, Chemical Abstracts Core, EMBASE, MEDLINE, Veterinary Science Database
  • Page Numbers: pp.417-427
  • Hacettepe University Affiliated: Yes

Abstract

Objective: The phenotype mediated by HNF4A/HNF1A mutations is variable and includes diazoxide-responsive hyperinsulinaemic hypoglycaemia (HH) and maturity-onset diabetes of the young (MODY).