Genetic abnormalities account for a substantial proportion of severe male infertility cases. Chromosomal anomalies, Y-chromosome microdeletions, and single-gene mutations can disrupt spermatogenesis at various stages.
Klinefelter syndrome, characterized by an additional X chromosome, represents one of the most common chromosomal causes of primary testicular failure. Microdeletions in erotic the azoospermia factor (AZF) regions of the Y chromosome impair sperm production and may influence assisted reproductive outcomes.
Genetic evaluation is particularly indicated in cases of non-obstructive azoospermia or severe oligospermia. Identifying genetic etiologies informs prognosis, guides treatment decisions, and provides essential counseling regarding hereditary transmission risks.
As molecular diagnostic tools advance, genetics continues to expand its role in personalized andrology.