Genetic testing of male infertility

Abstract

Patients with severe male factor are more likely to be carriers of chromosomal abnormalities both in their sperm and in their lymphocytes. These abnormalities include numerical alterations, structural alterations, and Y chromosome microdeletions. Gene mutations that cause male infertility and studies identifying polymorphic regions that, in conjunction with environmental factors, may be associated with male infertility have been described. Until further gene mutations are identified, standard genetic testing of infertile men is largely limited to chromosomal karyotyping, Y chromosome analysis, and cystic fibrosis gene mutation analysis. © Springer Science+Business Media, LLC 2010.