Sex chromosomal genes in male infertility

Abstract

Y chromosome harbors the male-specific region (MSY) that regulates male sex determination and spermatogenesis. Y microdeletions are the most common cause of male infertility. These deletions are found in 15-20% of patients with idiopathic azoospermia and 7-10% of patients with severe oligozoospermia. Apart from microdeletions, partial deletions in the AZFc region result in loss of multiple copies of Y genes and increase the risk of infertility. A few studies have suggested that routine screening of these deletions could help in understanding the etiology, offering counseling and managing infertility by natural or assisted methods. X being a homologue chromosome of Y has drawn attention regarding the presence of spermatogenic genes. A number of theories and speculations have been put forward that are now supported by the identification of a number of testis-specific or testis-predominant genes present on the X chromosome. This chapter provides an overview of the Y deletions and X chromosome genes that affect spermatogenesis or male fertility. © Springer Nature Singapore Pte Ltd. 2017. All rights reserved.