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Klinefelter syndrome — SCE Endocrinology MCQ

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EasyReproductive EndocrinologyKlinefelter syndromeSCE Endocrinology

A 28-year-old man has infertility and small firm testes. Testosterone is low, LH and FSH are elevated, and semen analysis shows azoospermia. He is tall with reduced facial hair and gynaecomastia. What is the most likely diagnosis?

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Correct answer: D — Klinefelter syndrome

Small firm testes with hypergonadotrophic hypogonadism and azoospermia are typical of Klinefelter syndrome. Kallmann syndrome causes low gonadotrophins and anosmia rather than high LH/FSH. The pearl is that fertility preservation discussion should precede or accompany testosterone replacement planning.

Reference: Endocrine Society testosterone therapy guideline, EAU male infertility guidance