Many aspects of male fertility are influenced by genetics. Over 150 genes have been shown to be associated with infertility in mouse models, although translation of these findings to human male infertility has been slow. Nevertheless, it is likely that a significant number of these gene deletions may be associated with human infertility. There is much that we do not understand about the molecular basis of human male infertility; patients should be advised of this caveat. Genetic disorders in humans can lead to impaired spermatogenesis, defective sperm function, and defects in delivery of sperm. It is critical for the urologist who evaluates and treats infertile couples to have a working knowledge of these disorders. An understanding of the genetic basis of male infertility allows for the appropriate counseling of patients about treatment options and risks to their potential offspring.
