Diazoxide-unresponsive Hyperinsulinemic Hypoglycaemia in a Preterm Infant with Heterozygous Insulin Receptor Gene Mutation

Diazoxide-unresponsive Hyperinsulinemic Hypoglycaemia in a Preterm Infant with Heterozygous Insulin Receptor Gene Mutation

Homozygous or compound heterozygous mutations in insulin receptor gene (INSR) lead to marked insulin resistance and hyperglycaemia in Donohue syndrome and Rabson-Mendenhall syndrome, conditions which are associated with significant morbidity early in life. In contrast, heterozygous INSR variants res...

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Bibliographic Details
Main Authors: Sarah Wing-Yiu Poon, Brian Hon-Yin Chung, Mabel Siu-Chun Wong, Anita Man-Ching Tsang
Format: Article
Language:English
Published: Galenos Yayincilik 2025-03-01
Series:JCRPE
Subjects:
hyperinsulinism
hypoglycaemia
insulin receptor
Online Access:https://www.jcrpe.org/articles/diazoxide-unresponsive-hyperinsulinemic-hypoglycaemia-in-a-preterm-infant-with-heterozygous-insulin-receptor-gene-mutation/doi/jcrpe.galenos.2023.2022-12-10
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