ABSTRACT
Genetic causes are classified into gross microscopic chromosomal numerical or structural aberrations, sub-microscopic Y-chromosome microdeletions, and specific gene mutations. From a clinical point of view, genetic causes can impair fertility quantitatively, qualitatively, by causing hypogonadotropic hypogonadism, by causing absence of seminal ducts, or by causing recurrent early abortion. Genetic factors tend to be more prevalent in men with severe male-factor infertility. The prevalence seems to be inversely proportional to semen parameters. Because of the large number of genes involved and the different variables involved in genetic infertility, establishing a genetic screening panel is a challenge for researchers. Although there is no therapeutic treatment for genetic causes of male infertility, testing is important to identify the etiology and to diagnose associated comorbidity. Klinefelter syndrome is the most common genetic cause of male infertility with an estimated incidence of 0.2% of newborn males.
