Question 1 · Hard
A 30-year-old man is evaluated for 3 years of infertility. Both testes are of normal size, but the vas deferens cannot be felt on either side. Semen: volume 0.7 mL (low), pH 6.7, no sperm even after centrifugation, fructose absent. FSH, LH and testosterone are normal. Which test should be offered before assisted conception?
- ACFTR gene mutation testing
- BTesticular biopsy for maturation arrest
- CY-chromosome microdeletion testing
- DKaryotype for Klinefelter syndrome
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Answer: A · CFTR gene mutation testing
Normal testes and hormones with azoospermia mean obstruction, not failure of sperm production. A low-volume, acidic, fructose-negative ejaculate shows that the seminal vesicles, which supply the alkaline, fructose-rich bulk of semen, are absent or blocked, and impalpable vasa point to congenital bilateral absence of the vas deferens. This is strongly linked to CFTR mutations, so the man and his wife are tested and counselled before sperm retrieval for ICSI.
- B: Biopsy is not needed here; spermatogenesis is presumed normal with normal testes and FSH.
- C: Y microdeletions cause non-obstructive azoospermia, usually with raised FSH.
- D: Klinefelter syndrome causes small firm testes with high FSH and LH.