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NBS – elevated 17-OHP in preterm — RACP Paediatrics MCQ

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ModerateGeneticsNBS – elevated 17-OHP in pretermRACP Paediatrics

A newborn screening result returns elevated 17-hydroxyprogesterone on day 3. The female infant appears well with normal genitalia. She was born at 30 weeks gestation. What is the most appropriate initial action?

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Correct answer: D — Urgent repeat sample required

Elevated 17-OHP on newborn screening in premature infants is frequently a false positive (premature adrenal glands produce higher 17-OHP levels). However, given the serious consequences of missed CAH, an urgent repeat sample is required to clarify. If the infant has ambiguous genitalia or salt-wasting features, treatment should not be delayed pending repeat results.

Reference: RACP Paediatric Curriculum – Endocrine/Neonatology; Australian Newborn Screening Guidelines