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Klinefelter Testosterone Timing — RACP Paediatrics MCQ

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ModerateEndocrinologyKlinefelter Testosterone TimingRACP Paediatrics

A 12-year-old boy presents with gynaecomastia, tall stature, small firm testes (4 mL bilaterally), and learning difficulties. Karyotype is 47,XXY. At what stage of puberty should testosterone replacement typically be considered?

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Correct answer: E — At normal pubertal age (11-12 years) if puberty does not progress spontaneously

Klinefelter syndrome: testosterone replacement is typically commenced at 11-12 years if puberty fails to progress spontaneously (which it usually does not). Testosterone promotes virilisation, bone health, and psychosocial wellbeing. Fertility preservation (testicular sperm extraction) should be discussed in adolescence.

Reference: RACP – 2024 – Paediatric Curriculum: Clinical Genetics