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PTEN syndrome — RACP Paediatrics MCQ

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HardGeneticsPTEN syndromeRACP Paediatrics

A 7-year-old with macrocephaly, autism and a pathogenic PTEN variant had a normal baseline thyroid ultrasound at age 5. There are no palpable nodules or compressive symptoms. What thyroid surveillance is recommended by eviQ?

Educational content. Not a substitute for clinical judgement or local policy.

Reveal the answer and explanation

Correct answer: D — Repeat ultrasound at age 10, then every 2–3 years until age 18

Explanation lettering: B = shown as A · C = shown as B · A = shown as C · E = shown as D · D = shown as E

E is correct because eviQ recommends baseline thyroid ultrasound at age 5 or diagnosis; if no nodules are found, repeat at age 10 and then every 2–3 years until 18, increasing frequency if nodules appear. A repeats too early and then over-surveils a normal scan. B uses an interval longer than the childhood schedule. C delays the first repeat and then over-surveils. D substitutes biochemistry for structural thyroid imaging. This corrects the original invalid key and the overstatement that ultrasound must be annual from diagnosis in every child.

Reference: eviQ, PTEN hamartoma tumour syndrome risk management: https://www.eviq.org.au/cancer-genetics/adult/risk-management/546-pten-pten-hamartoma-cowden-risk-management