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Biomarkers and Diagnostic Thresholds for Congenital Hyperinsulinism
Grace Petkovic1, Julie Park1,2, Catherine Collingwood3
1Department of Paediatric Endocrinology, Alder Hey Children's Hospital, Liverpool, UK.
Clinical Endocrinology
|October 3, 2024
Summary
Congenital Hyperinsulinism (CHI) diagnosis in children can be confirmed with a C-peptide level above 291.5 pmol/L. This threshold offers high sensitivity and specificity for identifying CHI, making C-peptide a key diagnostic marker.
Area of Science:
- Biochemistry
- Pediatric Endocrinology
- Clinical Diagnostics
Background:
- Congenital Hyperinsulinism (CHI) is characterized by elevated C-peptide levels during hypoglycemia.
- Accurate diagnostic markers are crucial for timely intervention in CHI.
Purpose of the Study:
- To establish a precise diagnostic threshold for C-peptide in pediatric CHI cases.
- To evaluate the utility of C-peptide as a primary biochemical marker for CHI.
Main Methods:
- Retrospective case-control analysis of hypoglycemia screens from 2009-2019.
- Comparison of plasma C-peptide, insulin, FFA, and BHOB levels in CHI vs. non-CHI pediatric patients.
- Utilized Youden Index to determine optimal diagnostic cutoff values.
Main Results:
- A C-peptide level of 291.5 pmol/L demonstrated 82% sensitivity and 99% specificity for CHI detection.
- Significant differences in C-peptide, insulin, FFA, and BHOB levels were observed between CHI and non-CHI cohorts.
- CHI patients showed higher C-peptide (median 147 pmol/L) and insulin, but lower FFA and BHOB compared to controls.
Conclusions:
- A C-peptide concentration exceeding 291.5 pmol/L is indicative of CHI in children.
- C-peptide is a highly effective biochemical marker for diagnosing CHI.
- Prioritizing C-peptide analysis in laboratory settings is recommended for efficient CHI diagnosis.
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