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Hyperinsulinism – critical sample pattern — RACP Paediatrics MCQ

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ModerateEndocrineHyperinsulinism – critical sample patternRACP Paediatrics

The critical sample shows: glucose 1.5, insulin 25 mU/L (elevated), C-peptide elevated, free fatty acids suppressed, ketones suppressed. What is the diagnosis?

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Correct answer: C — Measure insulin and C-peptide during hypoglycaemia

Inappropriately elevated insulin and C-peptide during hypoglycaemia with suppressed ketones and FFAs is diagnostic of hyperinsulinism. In infants, congenital hyperinsulinism (ABCC8/KCNJ11 mutations) is the most common cause. In older children, consider insulinoma or exogenous insulin (C-peptide would be low with exogenous insulin, distinguishing it).

Reference: RCH Melbourne – 2023 – Hypoglycaemia CPG; RACP Paediatric Curriculum – Endocrine