title: Genetic causes of male infertility.
abstract: Genetic causes account for 10-15% of severe male infertility, including chromosomal aberrations and single gene mutations. Natural selection prevents the transmission of mutations causing infertility, while this protective mechanism may be overcome by assisted reproduction techniques. Consequently the identification of genetic factors has become good practice for appropriate management of the infertile couple. Furthermore, patients affected by some forms of genetic alterations produce a higher frequency of sperm with aneuploidies. Sperm aneuploidies are the direct result of the constitutional genetic abnormality or are caused by meiotic errors induced by the altered testicular environment that these men present. In this review we will report and discuss the genetic causes of male infertility known up to date and we will analyse genetic polymorphisms possibly associated with male infertility.
authors.affiliation: University of Padova, Department of Histology, Microbiology and Medical Biotechnologies, Centre for Male Gamete Cryopreservation, Via Gabelli 63, 35121 Padova, Italy.
authors.forename: Alberto
authors.initials: A
authors.lastname: Ferlin
authors.forename: Barbara
authors.initials: B
authors.lastname: Arredi
authors.forename: Carlo
authors.initials: C
authors.lastname: Foresta
mesh_terms: D002869:Chromosome Aberrations; D041322:Chromosomes, Human, Y; D006801:Humans; D007248:Infertility, Male / Q000235:genetics*; D008297:Male; D009154:Mutation; D011110:Polymorphism, Genetic; D025064:Sex Chromosome Disorders