Association of MSY haplotype background with nonobstructive azoospermia is AZF‐dependent: A case‐control study

Abstract

It has been established that the male-specific region of the Y chromosome (MSY) carries genes that contribute to spermatogenesis and male fertility. In the past decades, there have been numerous attempts to identify the genes that are responsible for spermatogenesis (Tyler-Smith & Krausz, 2009). Identifying genetic variation (i.e. causative variants) in MSY genes that could be potentially used as possible markers for diagnosis of male infertility has proved to be challenging. It has been reported that 2 to 3% of human males are infertile due to defects in spermatogenesis, primarily because of oligozoospermia or azoospermia (Hull et al., 1985). MSY abnormality, mainly in the form of microdeletions, can be found in about 10% of such males (Choi et al., 2012; Umeno et al., 2006). The first search for candidate genes began in 1976 where cytogenetically visible Yq deletions were identified in six patients with azoospermia (Tiepolo & Zuffardi, 1976). Based on molecular genetic techniques, in 1996,