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Congenital hypothyroidism — RACP Paediatrics MCQ

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ModerateNeonatologyCongenital hypothyroidismRACP Paediatrics

A 9-day-old infant has a positive newborn bloodspot result showing markedly elevated TSH. He is feeding well and has mild jaundice but no dysmorphic features. Confirmatory venous tests are sent and will return tomorrow. What is the most appropriate management?

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Correct answer: D — Start levothyroxine promptly after confirmatory blood has been taken

Congenital hypothyroidism should be treated urgently once confirmatory samples have been taken because delay can impair neurodevelopment. Imaging may help determine aetiology but must not delay replacement therapy. The pearl is that many affected newborns look well, so the newborn bloodspot result must drive timely action.

Reference: Australian Newborn Bloodspot Screening Programme; Therapeutic Guidelines (eTG); AMH Children's Dosing Companion