Case reports in endocrinology
Diazoxide-Responsive Congenital Hyperinsulinism in a Preterm Infant With Homozygous ABCC8 Mutation: A Case Report
By Kansakar P, Gurung G, Bhandari S and 4 others.
Abstract
Introduction
Congenital hyperinsulinism (CHI) is characterized by inappropriate insulin secretion resulting in persistent neonatal hypoglycemia. CHI is often linked to mutations in the ABCC8 and KCNJ11 genes and can lead to persistent hypoglycemia, seizures, and neurological injury, making early diagnosis and management essential.
