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Klinefelter syndrome — RACP Paediatrics MCQ

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HardEndocrineKlinefelter syndromeRACP Paediatrics

A 15-year-old has 47,XXY Klinefelter syndrome, small testes, rising gonadotrophins and falling testosterone. Pubertal progression is stalling, and the family asks whether treatment should wait until adulthood. What is the best response?

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

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Correct answer: B — Plan pubertal testosterone with endocrinology after fertility preservation counselling and assessment

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

B is correct because testosterone replacement is commonly introduced around puberty when endogenous production is inadequate, with individualised monitoring and timely fertility counselling. C creates avoidable hypogonadal morbidity. D does not overcome seminiferous and Leydig-cell failure predictably. E is not universal or first-line endocrine care. A is falsely absolute; selected patients may have assisted-reproduction options, so counselling should occur before choices that affect planning.

Reference: NSW Centre for Genetics Education, Klinefelter syndrome: https://www.genetics.edu.au/SitePages/Klinefelter-Syndrome.aspx