skip to main content

Congenital hyperinsulinism — RACP Paediatrics MCQ

Instant feedback + full explanation. One question, done properly.

HardEndocrineCongenital hyperinsulinismRACP Paediatrics

A macrosomic neonate (4.8 kg) born to a non-diabetic mother has recurrent severe hypoglycaemia (blood glucose 0.8 mmol/L) requiring high glucose infusion rates (>10 mg/kg/min). Insulin level is inappropriately elevated during hypoglycaemia. Ketones are suppressed. What is the most likely diagnosis?

Educational content. Not a substitute for clinical judgement or local policy.

Reveal the answer and explanation

Correct answer: E — Hyperinsulinism

Severe persistent hypoglycaemia requiring high glucose infusion rates with inappropriately elevated insulin and suppressed ketones and free fatty acids during hypoglycaemia is diagnostic of hyperinsulinism. Macrosomia (due to the anabolic effects of insulin in utero) supports this. First-line medical treatment is diazoxide. Genetic testing for ABCC8/KCNJ11 mutations guides management.

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