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Klinefelter syndrome — SCE Endocrinology MCQ

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EasyReproductive EndocrinologyKlinefelter syndromeSCE Endocrinology

A 29-year-old man has infertility and small firm testes. He is tall with gynaecomastia. Testosterone is low, LH and FSH are raised, and karyotype is 47,XXY. What is the most likely diagnosis?

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Correct answer: BKlinefelter syndrome

Primary testicular failure with 47,XXY confirms Klinefelter syndrome. Kallmann and pituitary causes produce low or inappropriately normal gonadotrophins. Fertility counselling, testosterone replacement assessment and metabolic screening are key.

Reference: Endocrine Society Testosterone Therapy Guideline