Congenital hypothyroidism — RACP Paediatrics MCQ

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EasyEndocrineCongenital hypothyroidismRACP Paediatrics

Newborn screening detects elevated TSH (45 mU/L) in a well-appearing 5-day-old neonate. Confirmatory blood test shows TSH 55 mU/L and free T4 5 pmol/L (low). What is the most appropriate management?

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Correct answer: B — Levothyroxine

Confirmed congenital hypothyroidism (elevated TSH with low free T4) requires immediate levothyroxine replacement (10-15 mcg/kg/day) to prevent neurodevelopmental impairment. Treatment should not be delayed pending thyroid imaging. This is detected through the Australian Newborn Screening Programme.

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