Cytogenetic and molecular genetic investigations

Male infertility and hypogonadism may be caused by a genetic defect, which should be investigated by cytoge-netic or molecular genetic analysis. The main indications for genetic testing in andrology are azoospermia and severe oligozoospermia. In selected cases of hypogonadotropic hypogonadism and Kallmann syndrome, especially those with an evident familial component, mutation screening of the known genes may be indicated. Even if detection of a genetic alteration will not substantially change the treatment, genetic testing should be performed for two reasons: (1) to finalize a causal diagnosis, and (2) to assess the genetic risk for the offspring in case of successful treatment. © 2010 Springer-Verlag Berlin Heidelberg.