Abstract
Male infertility is attributable to 50% of total infertility cases and about 30% of these cases remain idiopathic. In the Middle East and North Africa region (MENA), male infertility affects about 22.6% of men of reproductive age. Male infertility is caused by a variety of factors, including endocrine disruption, exposure to toxins, lifestyle, genetic and epigenetic modifications. Genetic modifications, including chromosomal abnormalities, chromosomal rearrangements, Y chromosome microdeletions and single-gene mutations, explain for about 10-15% of infertility cases. Since genetic aberration is a key player in the pathogenesis of male infertility, it is important to explore the impact in the MENA region due to the high incidence of male infertility. Therefore, the current study aims to systematically analyse the literature regarding the impact and common causes of male infertility in the MENA region. To achieve this aim, a comprehensive literature search was performed on PubMed, Google Scholar, and Science Direct databases. Following the search, a total of 126 articles was retrieved, of which 12 were duplicates and another 69 articles did not meet the inclusion criteria, totaling the exclusion of 81 articles. Studies excluded were those that had patient populations originating outside the MENA region, review articles, non-English written articles, or studies where the patient population was under 18 years of age. Findings showed that the frequent genetic aberration leading to male infertility in these regions include Y chromosome microdeletions, gene polymorphisms or copy number variations, mitochondrial microdeletions and other genetic deletions or mutations. In lieu of this, diverse clinical genetic tests should be made available for the proper diagnosis of male infertility.
Highlights
Infertility represents the inability to achieve pregnancy after twelve or more months of regular unprotected sexual intercourse, and it affects about 15% of couples of reproductive age
Eldib and Tashan (2018) showed that the incidence of primary infertility in the Middle East and North Africa region (MENA) region is estimated at 3.8%, and secondary infertility at 17.2%, while demographic infertility (failure to achieve conception with live birth within 5 years of exposure, based on a consistent union status, lack of contraceptive use, non-lactating and maintaining a desire for a child (Mascarenhas et al 2012)) is estimated at 22.6% (Eldib and Tashani 2018)
Chromosomal aberrations and azoospermia factor (AZF) microdeletions were seen in patients with either nonobstructive azoospermia or severe oligozoospermia; but could achieve successful fertilisation pregnancies with the help of assisted reproductive technology
Summary
Infertility represents the inability to achieve pregnancy after twelve or more months of regular unprotected sexual intercourse, and it affects about 15% of couples of reproductive age. Located in the AZFa region is Ubiquitin specific peptidase 9 Y linked (USP9Y), which plays an important role in male reproductive development and spermatogenesis (Colaco and Modi 2018), as studies have shown its absence in infertile men whilst noting its lack even in normal sperm count fertile men (Colaco and Modi 2018). Dead Box RNA Helicases, Box 3, Y linked (DBY), another functional gene in the AZFa region, encodes an ATP-dependent DEAD-box RNA helicase that is only expressed in germ cells It has a homologue on the X chromosome (DBX) with 95% similarity, with the former playing a role limited to pre-meiotic male germ cells and the latter on post-meiotic spermatids. Basic protein Y linked 2 (BSY2) is expressed in the testis and it is
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