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Klinefelter syndrome — SCE Endocrinology MCQ

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ModerateReproductive endocrinologyKlinefelter syndromeSCE Endocrinology

A 32-year-old man presents with infertility and reduced libido. Testes are 4 ml bilaterally and he has sparse facial hair. Testosterone is low, LH and FSH are raised, and semen analysis shows azoospermia. What is the most likely diagnosis?

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Correct answer: CKlinefelter syndrome

Klinefelter syndrome is best because small testes with azoospermia and hypergonadotrophic hypogonadism are classic for Klinefelter syndrome. The alternatives are less appropriate because central hypogonadism and prolactinoma have low or normal gonadotrophins; anabolic steroids suppress LH and FSH; androgen insensitivity has a different phenotype. The SCE teaching point is to integrate the clinical pattern, biochemistry and context rather than treating an isolated result.

Reference: Endocrine Society testosterone therapy guideline