Y chromosome microdeletions and male infertility

Abstract

Infertility is often defined as the condition in which a couple cannot conceive after one year of unprotected intercourse. Male specific factors account for about 30-40% of infertility. In 40-50% of infertility cases, female specific factors are the cause, while the remaining 10-30% are either attributed to both male and female specific factors or are unexplained. Several factors are involved in male infertility that can be divided into genetic, epigenetic, and non-genetic factors. Spermatogenic Failure (SgF) accounts for more than half of male infertility cases. Microdeletions of Yq chromosome are the most significant recognized cause of SgF. Up to 15% of SgF is related to known Y chromosomal deletions. Extensive physical, functional, and genetic analyses of the Y chromosome have now identified three AZF regions (AZFa, AZFb and AZFc), which encode spermatogenic genes. Y chromosome microdeletions, depending on the type of deletion, result in the loss of spermatogenic genes. The detection of Y chromosome microdeletions is performed by known STS (Sequence Tag Sites) markers for these regions. Besides, a new hybridization method (Suspension Array Technology) is recently used for rapid and efficient detection of these deletions. In the present study, the association between Y chromosome microdeletions and male infertility, molecular mechanisms involved in microdeletions, molecular detection of Y chromosome microdeletions and some treatment strategies have been reviewed. © 2014, Iranian Neurogenetics Society. All rights reserved.