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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
PubMed

Insights

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.
Abstract

Keywords:
C‐peptidebiomarkerscongenital hyperinsulinismdiagnostic tests, routinehypoglycemia

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