A comprehensive review of genetics and genetic testing in azoospermia

Abstract

Azoospermia due to obstructive and non-obstructive mechanisms is a common manifestation of male infertility accounting for 10-15% of such cases. Known genetic factors are responsible for approximately 1/3 of cases of azoospermia. Nonetheless, at least 40% of cases are currently categorized as idiopathic and may be linked to unknown genetic abnormalities. It is recommended that various genetic screening tests are performed in azoospermic men, given that their results may play vital role in not only identifying the etiology but also in preventing the iatrogenic transmission of genetic defects to offspring via advanced assisted conception techniques. In the present review, we examine the current genetic information associated with azoospermia based on results from search engines, such as PUBMED, OVID, SCIENCE DIRECT and SCOPUS. We also present a critical appraisal of use of genetic testing in this subset of infertile patients.

Figure 1

Schematic representation of the Y chromosome that depicts the AZF region, the AZF subregions and the primary genes within each subregion. Adapted from: O'Flynn, O'Brien KL, Varghese AC, Agarwal A. The genetic causes of male factor infertility: a review, pages 1-12, copyright 2010, Fertil Steril 93, with permission from Elsevier via the Copyright Clearance Center (Order Detail ID: 62879217).