Purpose of review: The purpose of this review is to provide a contemporary overview of the genetic evaluation of azoospermic or severely oligozoospermic men.
Recent findings: Genetic tests should be selected based upon the initial clinical evaluation. Patients with vasal agenesis or unexplained obstructive azoospermia and low semen volume should be tested for abnormalities of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Cytogenetic testing (karyotype) and Y chromosome microdeletion (YCMD) screening are indicated in all cases when severely impaired sperm production due to testicular failure is suspected. Mutational screening of commonly implicated genes should be considered when congenital hypogonadotropic hypogonadism is clinically apparent.
Summary: A clinically directed genetic evaluation is indicated in all azoospermic and severely oligozoospermic men. Such genetic testing is informative about the cause of infertility, the prognosis for biological paternity using assisted reproduction, and the risks of genetic abnormalities and disease in offspring. Future genetic testing may reveal a predisposition for medical conditions beyond infertility that warrant clinical management.