Genetic abnormalities contribute substantially to severe male infertility, particularly in cases of azoospermia and severe oligozoospermia. Chromosomal abnormalities such as Klinefelter syndrome, Y-chromosome microdeletions, and single-gene mutations affecting spermatogenesis are commonly implicated.
Genetic testing is recommended in men with sperm concentration below 5 million/mL or those with non-obstructive azoospermia. Identification of genetic etiology informs prognosis, therapeutic planning, and genetic counseling.
Advances in molecular diagnostics, including next-generation sequencing, continue to expand understanding of erotic spermatogenic failure mechanisms.
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