The prognostic role of the extent of Y microdeletion on spermatogenesis and maturity of Sertoli cells

Abstract

Substantial involvement of the Y chromosome in sexual development and spermatogenesis has been demonstrated. Over the last decade, varying extent of Y chromosome microdeletions have been identified among infertile patients with azoospermia or oligozoospermia. These microdeletions were clustered in three main regions named AZFa, AZFb, and AZFc. Analysis of the Y chromosome microdeletion was found to be of prognostic value in cases of infertility, both in terms of clinical management as well as for understanding the aetiology of the spermatogenesis impairment. However, the accumulated data are difficult to analyse, due to the variable extent of these deletions, the different sequence-tagged sites (STS) used to detect the microdeletions, and the non-uniformity of the histological terminology used by different investigators. This debate discusses the chances of finding testicular spermatozoa in men with a varying extent of Y chromosome microdeletions. The genotype and germ cell findings in men with AZFa microdeletions as well as those that include more than a single AZF region are reviewed, as is the effect of Y chromosome AZF microdeletions on the maturity of the Sertoli cells.

AZFb microdeletions and oligozoospermia—which mechanisms?

“…It is characterized by the presence of spermatogonia and spermatocytes, with an absence of postmeiotic germ cells in the majority of the tubules (23). Microdeletions of AZFb per se are also responsible for maturation arrest (24). The repetitive structure of the Y chromosome, mainly in AZF region, make it prone to deletions resulting from different mechanisms.…”

Correlation between Y chromosome microdeletion and male infertility

“…A study (Kleiman et al, 2002) suggested that, 50% of patients with AZFc deletions could recover fertilization following testis puncture and intracytoplasmic sperm injection (ICSI). Liu et al (2013) suggested that AZFc deletion is more likely to be passed onto male offsprings, but would not increase the risks of infertility among female offsprings.…”

Common Tag STSs in the AZF Region Associated with Azoospermia and Severe Oligospermia in Infertile Egyptian Men~!2009-12-21~!2010-04-13~!2010-06-18~!

“…7607, Umm Al-Qura University, Makkah, KSA; Mobile: +966-553692180; Fax: +966-2-5270000 (ext 4659); E-mail: nasgenet@hotmail.com; naelhawary@uqu.edu.sa DNA from blood [5] and sperm [6] of infertile men. Most studies have focused on men with low sperm counts, so most of the deletions that have been found are associated with azoospermia and severe oligospermia.…”