Biomarkers and Diagnostic Thresholds for Congenital Hyperinsulinism.

Petkovic, Grace; Park, Julie; Collingwood, Catherine; Senniappan, Senthil; Didi, Mohammed

Context: Congenital Hyperinsulinism (CHI) is associated with inappropriately high levels of C‐peptide in the context of hypoglycemia. Objective: We aimed to better clarify a diagnostic threshold value of C‐peptide for children presenting with CHI. Design: This was a retrospective case‐control analysis, examining all hypoglycemia screens, undertaken between 2009 and 2019 at a quaternary paediatrics unit. Plasma C‐peptide, insulin, free fatty acid (FFA) and B‐hydroxybutyrate (BHOB) concentrations in children diagnosed with CHI were compared with concentrations in children diagnosed with other conditions. Patients: All patients requiring hypoglycaemic screens at the quaternary children's hospital were analysed. Results: Median [C‐peptide] were statistically significantly different between CHI (147) and non‐CHI (72) patients, p < 0.05. The Youden Index indicated that a [C‐peptide] value of 291.5 pmol/L would give the greatest optimization of sensitivity (82%) and specificity (99%) for detecting CHI. Median [insulin] differed significantly between the cohorts with a level of 64 pmol/L for CHI patients compared with 0 pmol/L with non‐CHI patients (p < 0.01). Median [BOHB] was 0 μmol/L in CHI patients as compared with 2378 μmol/L for non‐CHI patients (p < 0.01). Median [FFA] levels were 1910 μmol/L in the non‐CHI cohort, compared with 0 in the CHI cohort (p < 0.01). Conclusions: This study suggests that a C‐peptide concentration greater than 291.5 pmol/L is diagnostic of CHI in children. C‐peptide appears to offer the greatest utility as a biochemical diagnostic test for CHI and could be prioritised for laboratory analysis.

FREE fatty acids; CHILDREN'S hospitals; HYPERINSULINISM; DIAGNOSIS methods; HYPOGLYCEMIA

Clinical Endocrinology, 2025, Vol 102, Issue 2, p129

0300-0664

Academic Journal

10.1111/cen.15137