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 (
-
Chromosome Analysis (Karyotype): Chromosome number and structure (ex. Klinefelter syndrome). 1/500 live male birth prevalence.