Male Infertility 5

Question 1

What genetic testing is involved in male infertility?

Answer 1

• These tests are offered to men with sperm concentrations < 5 million sperm/mL and/or clinical evidence of congenital absence of the vas deferens or congenital epididymal obstruction
  
  • Chromosome Analysis (Karyotype): Chromosome number and structure (ex. Klinefelter syndrome). 1/500 live male birth prevalence.
    
    • Triad: Small firm testes, gynecomastia, azoospermia
  • Y-Chromosome Testing for Microdeletions: Deletions on the long arm of the Y chromosome, the region of the Y chromosome housing genes for spermatogenesis.
  • Cystic Fibrosis Gene Mutations: CFTR testing and Intron 8 Splice Variant Testing.
    
    • Can manifest in congenital unilateral or bilateral absence of the vas deferens (CUAVD or CBAVD) or congenital point obstruction of the epididymis
    • [For men with CBAVD, semen analysis typically reveals abnormally low ejaculate volume (