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Congenital Hypothyroidism — RACP Paediatrics MCQ

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ModerateEndocrinologyCongenital HypothyroidismRACP Paediatrics

A 14-day-old neonate presents with poor feeding, lethargy, and prolonged jaundice. The newborn screening (Guthrie card) result shows elevated TSH. Serum TSH is 85 mIU/L (normal <10) and free T4 is 4 pmol/L (normal 10–25). What is the most appropriate immediate action?

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Correct answer: B — Start levothyroxine 10–15 mcg/kg/day immediately

Congenital hypothyroidism requires urgent treatment with levothyroxine at 10–15 mcg/kg/day, commenced as soon as the diagnosis is confirmed (or even before confirmatory results if clinical suspicion is high). Early treatment (within the first 2 weeks of life) is critical to prevent irreversible neurodevelopmental impairment. Imaging can be arranged but should not delay treatment.

Reference: RCH Melbourne – 2024 – Clinical Practice Guidelines: Congenital Hypothyroidism