ESPE Yearbook of Paediatric Endocrinology

Arch Dis Child Fetal Neonatal Ed. 2025 Apr 17;110(3):261-268. doi: 10.1136/archdischild-2024-3273221

Brief Summary:This retrospective study evaluated the clinical presentation and management diversity of 99 neonates diagnosed with hyperinsulinism in a UK tertiary neonatal unit from 2015–2021. The cohort was categorized into three severity groups: severe (20%), moderate (30%), and mild (50%). Diagnosis was based on blood glucose <2.8 mmol/L and insulin >6 pmol/L. Although hyperinsulinism is typically linked with large for gestational age (LGA) infants, 35% were small for gestational age (SGA) and 42% were preterm, showing a broader clinical spectrum. Notably, glucose requirements and severity did not consistently correlate with gestational age or birth weight. Diazoxide treatment was initiated in 20 infants, with term infants receiving it earlier than preterms (9.9 vs. 37 days). Severe cases received higher concentrations of dextrose and had longer hospital stays. Genetic testing was more frequent in severe cases (90%), yielding a diagnosis in 35%. Only 23% were referred to national specialists, and 3% transferred. Despite high early glucose needs, only a minority showed persistent hyperinsulinism requiring diazoxide.

The study underscores the need for early clinical consideration of hyperinsulinism across all birth weights and gestational ages and calls for prospective studies to guide standardized care and evaluate long-term outcomes.