Neonatal hypoglycaemia in the offsprings of parents with maturity-onset diabetes of the young (MODY)

Jakub Maly; Jana Urbanova; Vladimir Musil; Jan Broz; Milos Cerny; Ludmila Brunerova

doi:10.1515/jpem-2025-0042

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Neonatal hypoglycaemia in the offsprings of parents with maturity-onset diabetes of the young (MODY)

Jakub Maly , Jana Urbanova , Vladimir Musil , Jan Broz , Milos Cerny und Ludmila Brunerova

Veröffentlicht/Copyright: 28. April 2025

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Aus der Zeitschrift Journal of Pediatric Endocrinology and Metabolism Band 38 Heft 6

Abstract

Introduction

Neonatal hypoglycaemia is the most common metabolic disorder of various causes, relatively rare being MODY (Maturity Onset Diabetes of the Young).

Content

Data search of relevant articles focused on hypoglycaemia in carriers of selected MODY gene mutations published from 2007 to 2022 was performed in databases Medline, PubMed, Cochrane and UptoDate based on key words: ‘hyperinsulinemic hypoglycaemia’, ‘congenital hyperinsulinism’, ‘MODY’, ‘HNF4A mutation’, ‘HNF1A mutation’.

Summary

Loss of function of HNF4A and HNF1A genes comprises approximately to 5.9 % of diazoxide responsive hyperinsulinemic hypoglycaemia, which may appear in 15 % HNF4A mutation carriers. A typical finding of HNF4A mutation carriers with neonatal hypoglycaemia was a birth weight above 4000 g or above 97th percentile.

Outlook

Although mutations in MODY genes represent a rare cause of neonatal hypoglycaemia, they should be considered in the differential diagnosis, particularly in cases of persistent hypoglycaemia requiring intensive care.

Keywords: hyperinsulinemic hypoglycemia; MODY; congenital hyperinsulinism; HNF4A ; HNF1A

Corresponding author: Jakub Maly, Department of Children and Adolescents, Faculty Hospital Kralovske Vinohrady, Srobarova 50, 100 34, Praha, Czechia; and Third Faculty of Medicine, Charles University, Prague, Czechia, E-mail: jakub.maly@fnkv.cz

Research ethics: Not applicable.
Informed consent: Not applicable.
Author contributions: All authors have accepted responsibility for the entire content of this manuscript and approved its submission.
Use of Large Language Models, AI and Machine Learning Tools: None declared.
Conflict of interest: The authors state no conflict of interest.
Research funding: None declared.
Data availability: Not applicable.

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Received: 2025-01-19

Accepted: 2025-03-30

Published Online: 2025-04-28

Published in Print: 2025-06-26

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Artikel in diesem Heft

https://doi.org/10.1515/jpem-2025-0042

Schlagwörter für diesen Artikel

hyperinsulinemic hypoglycemia; MODY; congenital hyperinsulinism; HNF4A; HNF1A