Genetic variations and male infertility

Abstract

Infertility is the inability to conceive after a year of unprotected intercourse and affects about 15% of couples worldwide. It is a complex disorder with genetic and environmental causes. Karyotype abnormalities, microdeletions on the Y chromosome, and cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations are well-known genetic causes in azoospermic or severely oligozoospermic men. Although some specific mutations have been identified, other genetic factors responsible for sperm defects remain unknown. Idiopathic infertility accounts for almost 30% of male infertility with a significant proportion of underlying genetic variations. The PubMed database was reviewed for the most relevant papers on the topic of genetics and male infertility published in the last 10 years related to male infertility using the keywords genetic variation, polymorphisms, and infertility. In this chapter, we review the genetic variations that might be involved in male infertility in different ethnic populations and discuss the limitations of these studies. © 2018 Elsevier Inc. All rights reserved.