Male Infertility 5 Flashcards

Describe when genetics testing is indicated in the evaluation of men with ssevere oligospermia/azoospermia.

1
Q

What genetic testing is involved in male infertility?

A
  • 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 (
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