Pathology · Genetic and Chromosomal Disorders

A 22-year-old man presents with gynecomastia, infertility, sparse facial hair, and tall stature with disproportionately long limbs. Semen analysis shows azoospermia. Hormonal evaluation would be expected to show:

  • A Low testosterone, low LH, low FSH
  • B High testosterone, low LH, normal FSH
  • C Normal testosterone, normal gonadotropins, low inhibin B only
  • D Low testosterone, high LH, high FSH
Correct answer: D. Low testosterone, high LH, high FSH

Explanation

This presentation fits Klinefelter syndrome (47,XXY). The testes are atrophic with hyalinized seminiferous tubules, causing failure of spermatogenesis and Leydig cell insufficiency. Testosterone production falls, removing feedback inhibition, so both LH and FSH rise. Low testosterone with low gonadotropins would indicate secondary (hypothalamic-pituitary) hypogonadism, as in Kallmann syndrome, which is not the picture here. A buccal smear would show a positive sex chromatin (Barr) body.

Reference: Robbins and Cotran Pathologic Basis of Disease, 10th ed.

High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP

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