A 30-year-old man has severe oligoasthenozoospermia. Semen: volume 0.6 mL, pH 6.6, concentration 1 million/mL. Examination shows normal testes (15 mL each) but neither vas deferens is palpable. Before proceeding with surgical sperm retrieval and ICSI, which step is ESSENTIAL?
- A Testicular biopsy to exclude maturation arrest
- B Y chromosome microdeletion testing
- C CFTR mutation analysis of the man and his female partner ✓
- D Karyotyping of the man
Correct answer: C. CFTR mutation analysis of the man and his female partner
Explanation
Congenital bilateral absence of the vas deferens is a genital manifestation of cystic fibrosis; most affected men carry at least one detectable CFTR mutation. Because assisted reproduction can transmit mutant alleles, the female partner must be offered carrier testing before conception, and the couple counselled accordingly. The low acidic volume reflects absent seminal vesicle secretion. A Y microdeletion study belongs to non-obstructive azoospermia with elevated FSH, and biopsy or karyotype adds nothing once the obstructive anatomy explains the picture.
Reference: Williams Gynecology, 4th ed.
High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP
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