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NBS – elevated TSH — RACP Paediatrics MCQ

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ModerateGeneticsNBS – elevated TSHRACP Paediatrics

A newborn screening result returns markedly elevated TSH (>100 mU/L). The infant is 5 days old and appears well. What is the most appropriate action?

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Correct answer: B — Start treatment immediately before confirmatory results

A markedly elevated TSH on newborn screening is highly likely to represent congenital hypothyroidism. Treatment with levothyroxine should be started immediately (within 2 weeks of birth ideally) without waiting for confirmatory results, as delays in treatment lead to irreversible neurodevelopmental impairment. Confirmatory TFTs should be taken simultaneously.

Reference: RCH Melbourne – 2023 – Congenital Hypothyroidism CPG; Australian Newborn Screening Guidelines