Genetic Testing in Male Infertility

Infertility is a major health problem which affects approximately 22% of married couples in reproductive age. The apparent increased incidence of male infertility, in parallel with the widespread use of in vitro fertilization (IVF), raises concern as to the impact of advanced assisted conception techniques in transmitting genetic anomalies to the offspring. Recent research has widely focused on genetic factors underlying male infertility and several genetic tests are now clinically available. Genetic testing plays an important role not only to identify the etiology of male infertility but also aids in counseling as well as in the prevention of the transmission of genetic defects to the offspring via assisted reproduction. This review is focused on the syndromic and non-syndromic causes of male infertility and the diagnostic tests use in their evaluation.