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Klinefelter Syndrome — RACP Paediatrics MCQ

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ModerateAdolescent MedicineKlinefelter SyndromeRACP Paediatrics

A 16-year-old boy presents with gynaecomastia, small firm testes, tall stature, and learning difficulties. His arm span exceeds his height. Karyotype is 47,XXY. What is the recommended treatment?

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Correct answer: B — Testosterone replacement therapy commencing at puberty

Klinefelter syndrome (47,XXY) is the most common sex chromosome aneuploidy in males. Features include tall stature with eunuchoid proportions, small firm testes, gynaecomastia, infertility, and learning difficulties. Testosterone replacement therapy should be initiated at the expected age of puberty (or at diagnosis if post-pubertal) to promote virilisation, bone health, and psychosocial wellbeing.

Reference: RCH Melbourne – 2024 – Clinical Practice Guidelines: Klinefelter Syndrome