Genetics and Male Infertility

Chromosomal abnormalities

Among men with azoospermia, the frequency of chromosomal abnormalities is estimated to be around 16%. Of these males13% are found to have Klinefelter’s syndrome and the remaining 3% have other chromosomal aberrations, such as ring Y chromosome and translocations. ⁴

5-6% of oligozoospermic  men  have  karyotype  anomalies which are mostly autosomal robertsonian and reciprocal translocations.⁴ 

In a recent study, sperm from men with extremely severe oligoasthenoteratozoospermia were found to have significantly higher frequency of aneuploidy and diploidy. ⁹