Genetics of Idiopathic Male Infertility

Nearly 7% of men suffer from male factor infertility. In one-fourth of infertile males, the etiology remains unexplained. Unlike other multifactorial disorders, gene-gene and gene-environment interactions in the regulation of male fertility have been poorly characterized. A candidate-gene approach that incorporates biological information from model organisms is likely to be critical in deciphering the genetic basis of idiopathic male fertility. Genes that fulfill essential roles in spermatogenesis often have orthologs in several species wherein they serve similar functions. By using a comparative cross-species approach, major susceptibility genes underlying male infertility can be identified in association studies. With a better understanding of the molecular regulation of spermatogenesis, proper diagnosis and treatment of male infertility should be realized in the foreseeable future.