Spermatogenesis is a complex genetically controlled process. Disruption of this process causes male infertility. An extensive list of genetic defects is known to be cause the disruption. A few important genetic defects associated with male infertility were discussed in this review.

Detection of genetic defects causing infertility in men not only provides a proper diagnosis of the disease, but also has important ethical consequences if the patient is a candidate for assisted reproduction techniques (ART). This is because these patients undergoing ART carry the risk of passing on the genetic abnormalities, which contribute to infertility to their offspring. Thus both genetic counseling and screening are vital before the patient undergoes any assisted reproductive procedure.

Genetic screening is currently done using techniques such as karyotyping, PCR analysis, and fluorescence in-situ hybridization. As many new spermatogenesis genes are discovered in future, testing mutations will become easier by using DNA chips and microarray technology

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