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Congenital hypothyroidism — RACP Paediatrics MCQ

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ModerateNeonatologyCongenital hypothyroidismRACP Paediatrics

A 12-day-old infant is recalled after newborn bloodspot screening shows markedly elevated TSH. She is sleepy, constipated and has a large anterior fontanelle. Venous testing confirms primary hypothyroidism. What is the most appropriate management?

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Correct answer: C — Start levothyroxine promptly after confirmatory blood sampling

Confirmed congenital hypothyroidism requires prompt levothyroxine to protect neurodevelopment. Imaging can define thyroid anatomy but should not delay treatment. Newborn screening is designed to identify serious conditions before irreversible harm occurs.

Reference: Australian newborn bloodspot screening programme; RCH Congenital hypothyroidism resources