{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,2]],"date-time":"2026-09-02T10:08:29Z","timestamp":1788343709694,"version":"build-2803163510"},"update-to":[{"DOI":"10.12688\/f1000research.106950.1","type":"new_version","label":"New version","source":"publisher","updated":{"date-parts":[[2022,6,6]],"date-time":"2022-06-06T00:00:00Z","timestamp":1654473600000}}],"reference-count":96,"publisher":"F1000 Research Ltd","license":[{"start":{"date-parts":[[2022,6,6]],"date-time":"2022-06-06T00:00:00Z","timestamp":1654473600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100012001","name":"Al Jalila Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100012001","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["f1000research.com"],"crossmark-restriction":false},"short-container-title":["F1000Res"],"abstract":"<ns3:p>\n                    Male infertility is attributable to\n                    <ns3:italic>60<\/ns3:italic>\n                    % of total infertility cases and about\n                    <ns3:italic>30-50%<\/ns3:italic>\n                    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.\n                  <\/ns3:p>\n                  <ns3:p>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.<\/ns3:p>","DOI":"10.12688\/f1000research.106950.2","type":"journal-article","created":{"date-parts":[[2022,6,6]],"date-time":"2022-06-06T09:25:13Z","timestamp":1654507513000},"page":"125","update-policy":"https:\/\/doi.org\/10.12688\/f1000research.crossmark-policy","source":"Crossref","is-referenced-by-count":15,"title":["The genetic causes of male infertility: a Middle East and North Africa perspective"],"prefix":"10.12688","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2490-8139","authenticated-orcid":false,"given":"Ruthwik","family":"Duvuru","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mouhammad","family":"Halabi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7661-7718","authenticated-orcid":false,"given":"Temidayo S.","family":"Omolaoye","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefan S.","family":"Du Plessis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"2560","published-online":{"date-parts":[[2022,6,6]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","first-page":"e13402","DOI":"10.1111\/and.13402","article-title":"Chromosomal and Y-chromosome microdeletion analysis in 1,300 infertile males and the fertility outcome of patients with AZFc microdeletions.","volume":"51","author":"U Abur","year":"2019","journal-title":"Andrologia."},{"key":"ref88","doi-asserted-by":"publisher","first-page":"233-290","DOI":"10.5534\/wjmh.200196","article-title":"Male reproductive health and infertility Utility of Antioxidants in the Treatment of Male Infertility: Clinical Guidelines Based on a Systematic Review and Analysis of Evidence.","volume":"39","author":"A Agarwal","year":"2021","journal-title":"World J. Mens Health."},{"key":"ref89","doi-asserted-by":"publisher","first-page":"296-312","DOI":"10.5534\/wjmh.190055","article-title":"Male oxidative stress infertility (MOSI): Proposed terminology and clinical practice guidelines for management of idiopathic male infertility.","volume":"37","author":"A Agarwal","year":"2019","journal-title":"World J. Mens Health."},{"key":"ref2","doi-asserted-by":"publisher","first-page":"1-10","DOI":"10.1111\/and.13739","article-title":"Multiscale analysis of SRY-positive 46,XX testicular disorder of sex development: Presentation of nine cases.","volume":"52","author":"O Akar","year":"2020","journal-title":"Andrologia."},{"key":"ref3","doi-asserted-by":"publisher","first-page":"1155-1164","DOI":"10.1093\/humrep\/dez048","article-title":"ADCY10 frameshift variant leading to severe recessive asthenozoospermia and segregating with absorptive hypercalciuria.","volume":"34","author":"A Akbari","year":"2019","journal-title":"Hum. Reprod."},{"key":"ref4","doi-asserted-by":"publisher","first-page":"140-146","DOI":"10.1080\/19396368.2019.1682083","article-title":"Karyotypic abnormalities and molecular analysis of Y chromosome microdeletion in Iranian Azeri Turkish population infertile men.","volume":"66","author":"M Akbarzadeh Khiavi","year":"2020","journal-title":"Syst. Biol. Reprod. Med."},{"key":"ref5","doi-asserted-by":"publisher","first-page":"380-385","DOI":"10.22037\/uj.v0i0.4435","article-title":"The Possible Role of XRCC1 Gene Polymorphisms with Idiopathic Non-obstructive Azoospermia in Southeast Turkey.","volume":"16","author":"H Akbas","year":"2019","journal-title":"Urol. J."},{"key":"ref6","doi-asserted-by":"publisher","first-page":"119-122","DOI":"10.1007\/s10815-009-9296-8","article-title":"Cytogenetic abnormalities in 179 cases with male infertility in Western Region of Turkey: Report and review.","volume":"26","author":"M Akgul","year":"2009","journal-title":"J. Assist. Reprod. Genet."},{"key":"ref7","doi-asserted-by":"publisher","first-page":"770-775","DOI":"10.1590\/s1677-5538.ibju.2016.0505","article-title":"Ten cases with 46,XX testicular disorder of sex development: single center experience.","volume":"43","author":"E Akinsal","year":"2017","journal-title":"International Brazilian Journal of Urology: Official Journal of the Brazilian Society of Urology."},{"key":"ref8","doi-asserted-by":"publisher","first-page":"555-563","DOI":"10.1210\/jc.2017-01966","article-title":"Primary ovarian insufficiency and azoospermia in carriers of a homozygous PSMC3IP stop gain mutation.","volume":"103","author":"A Al-Agha","year":"2018","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"ref9","doi-asserted-by":"publisher","first-page":"1-5","DOI":"10.1007\/s12041-020-1181-3","article-title":"Prevalence of Y chromosome microdeletion in azoospermic infertile males of Iraqi population.","volume":"99","author":"A Al-Janabi","year":"2020","journal-title":"J. Genet."},{"key":"ref10","doi-asserted-by":"publisher","first-page":"371-375","DOI":"10.1111\/cge.12160","article-title":"NPHP4 mutation is linked to cerebello-oculo-renal syndrome and male infertility.","volume":"85","author":"A Alazami","year":"2014","journal-title":"Clin. Genet."},{"key":"ref11","doi-asserted-by":"publisher","first-page":"799-805","DOI":"10.1007\/s10815-013-9995-z","article-title":"High prevalence of genetic abnormalities in Middle Eastern patients with idiopathic non-obstructive azoospermia.","volume":"30","author":"M Alhalabi","year":"2013","journal-title":"J. Assist. Reprod. Genet."},{"key":"ref12","doi-asserted-by":"publisher","first-page":"727","DOI":"10.1071\/RD19025","article-title":"Deletion of dpy-19 like 2 (DPY19L2) gene is associated with total but not partial globozoospermia.","volume":"32","author":"F Alimohammadi","year":"2020","journal-title":"Reprod. Fertil. Dev."},{"key":"ref13","doi-asserted-by":"publisher","first-page":"1962-1965","DOI":"10.1248\/bpb.29.1962","article-title":"Dynamics of mitochondria during the cell cycle.","volume":"29","author":"N Arakaki","year":"2006","journal-title":"Biol. Pharm. Bull."},{"key":"ref14","doi-asserted-by":"publisher","first-page":"923-931","DOI":"10.1007\/s10815-013-0027-9","article-title":"Ubiquitin-specific protease (USP26) gene alterations associated with male infertility and recurrent pregnancy loss (RPL) in Iranian infertile patients.","volume":"30","author":"U Asadpor","year":"2013","journal-title":"J. Assist. Reprod. Genet."},{"key":"ref15","doi-asserted-by":"publisher","first-page":"1023-1032","DOI":"10.1038\/s10038-019-0642-0","article-title":"Identification of a missense variant in CLDN2 in obstructive azoospermia.","volume":"64","author":"M Askari","year":"2019","journal-title":"J. Hum. Genet."},{"key":"ref16","doi-asserted-by":"publisher","first-page":"16-23","DOI":"10.1016\/j.gene.2019.02.060","article-title":"Identification of a homozygous GFPT2 variant in a family with asthenozoospermia.","volume":"699","author":"M Askari","year":"2019","journal-title":"Gene."},{"key":"ref17","doi-asserted-by":"publisher","first-page":"505-510","DOI":"10.1016\/j.ajhg.2009.03.004","article-title":"Human Male Infertility Caused by Mutations in the CATSPER1 Channel Protein.","volume":"84","author":"M Avenarius","year":"2009","journal-title":"Am. J. Hum. Genet."},{"key":"ref18","doi-asserted-by":"publisher","first-page":"55-61","DOI":"10.1089\/gtmb.2017.0040","article-title":"Genetic Polymorphisms in PRM1, PRM2, and YBX2 Genes are Associated with Male Factor Infertility.","volume":"22","author":"O Aydos","year":"2018"},{"key":"ref19","doi-asserted-by":"publisher","first-page":"560-562","DOI":"10.5152\/tud.2017.79346","article-title":"Male infertility associated with de novo pericentric inversion of chromosome 1.","volume":"43","author":"O Balasar","year":"2017","journal-title":"Turk. J. Urol."},{"key":"ref20","doi-asserted-by":"publisher","first-page":"559-565","DOI":"10.1007\/s10815-008-9272-8","article-title":"Cytogenetic and Y chromosome microdeletion screening studies in infertile males with Oligozoospermia and Azoospermia in Southeast Turkey.","volume":"25","author":"M Balkan","year":"2008","journal-title":"J. Assist. Reprod. Genet."},{"key":"ref21","doi-asserted-by":"publisher","first-page":"365-371","DOI":"10.21873\/invivo.11068","article-title":"Partial Deletions of Y-Chromosome in Infertile Men with Non-obstructive Azoospermia and Oligoasthenoteratozoospermia in a Turkish Population.","volume":"31","author":"C Beyaz","year":"2017","journal-title":"In Vivo."},{"key":"ref22","doi-asserted-by":"publisher","first-page":"1-6","DOI":"10.1155\/2013\/138785","article-title":"Association study of single nucleotide polymorphisms in XRCC1 gene with risk of hepatocellular carcinoma in Chinese Han population.","volume":"2013","author":"J Bi","year":"2013","journal-title":"Biomed. Res. Int."},{"key":"ref23","doi-asserted-by":"publisher","first-page":"2-10","DOI":"10.1016\/j.clinbiochem.2018.03.012","article-title":"Fertility and infertility: Definition and epidemiology.","volume":"62","author":"M Vander Borght","year":"2018","journal-title":"Clin. Biochem."},{"key":"ref90","doi-asserted-by":"publisher","first-page":"14864-14868","DOI":"10.1073\/pnas.2536658100","article-title":"CatSper1 required for evoked Ca2+ entry and control of flagellar function in sperm.","volume":"100","author":"A Carlson","year":"2003","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"ref24","doi-asserted-by":"publisher","first-page":"915-922","DOI":"10.4238\/vol8-3gmr616","article-title":"Genetic anomalies in patients with severe oligozoospermia and azoospermia in eastern Turkey: A prospective study.","volume":"8","author":"G Ceylan","year":"2009","journal-title":"Genet. Mol. Res."},{"key":"ref25","doi-asserted-by":"publisher","first-page":"1-8","DOI":"10.1016\/S1028-4559(08)60099-6","article-title":"Chromosomal abnormalities associated with omphalocele.","volume":"46","author":"C Chen","year":"2007","journal-title":"Taiwan. J. Obstet. Gynecol."},{"key":"ref91","doi-asserted-by":"publisher","first-page":"73-76","DOI":"10.1016\/j.urology.2009.02.034","article-title":"Effects of N-acetylcysteine on Semen Parameters and Oxidative\/Antioxidant Status.","volume":"74","author":"H Ciftci","year":"2009","journal-title":"Urology."},{"key":"ref26","doi-asserted-by":"publisher","first-page":"14","DOI":"10.1186\/s12958-018-0330-5","article-title":"Genetics of the human Y chromosome and its association with male infertility.","volume":"16","author":"S Colaco","year":"2018","journal-title":"Reprod. Biol. Endocrinol."},{"key":"ref27","doi-asserted-by":"publisher","first-page":"823-831","DOI":"10.1016\/j.fertnstert.2007.04.055","article-title":"Do sperm DNA integrity tests predict pregnancy with in vitro fertilization?.","volume":"89","author":"J Collins","year":"2008","journal-title":"Fertil. Steril."},{"key":"ref28","doi-asserted-by":"publisher","first-page":"1182-1191","DOI":"10.1177\/147323001204000339","article-title":"Expansion and de novo occurrence of Y chromosome microdeletions occurring via natural vertical transmission in Northeastern China.","volume":"40","author":"R Dai","year":"2012","journal-title":"J. Int. Med. Res."},{"key":"ref29","doi-asserted-by":"publisher","first-page":"783-791","DOI":"10.14202\/vetworld.2016.783-791","article-title":"Y-chromosomal genes affecting male fertility: A review.","volume":"9","author":"J Dhanoa","year":"2016","journal-title":"Veterinary World."},{"key":"ref30","doi-asserted-by":"publisher","first-page":"333-337","DOI":"10.1111\/j.1439-0272.1991.tb02575.x","article-title":"On the expression of protamine genes in the testis of man and other mammals.","volume":"23","author":"L Domenjoud","year":"1991","journal-title":"Andrologia."},{"key":"ref31","doi-asserted-by":"publisher","first-page":"37","DOI":"10.4103\/LJMS.LJMS_24_18","article-title":"Infertility in the Middle East and North Africa Region: A systematic review with meta-Analysis of prevalence surveys.","volume":"2","author":"A Eldib","year":"2018","journal-title":"Libyan Journal of Medical Sciences."},{"key":"ref32","doi-asserted-by":"publisher","first-page":"468-470","DOI":"10.1136\/jmg.31.6.468","article-title":"Genital tract function in men with Noonan syndrome.","volume":"31","author":"M Elsawi","year":"1994","journal-title":"J. Med. Genet."},{"key":"ref33","doi-asserted-by":"publisher","first-page":"611-619","DOI":"10.4238\/vol9-2gmr743","article-title":"Mediterranean fever gene mutation analysis in infertile Turkish males.","volume":"9","author":"E Etem","year":"2010","journal-title":"Genet. Mol. Res."},{"key":"ref34","doi-asserted-by":"publisher","first-page":"133-141","DOI":"10.1016\/j.reprotox.2006.04.016","article-title":"Genetic causes of male infertility.","volume":"22","author":"A Ferlin","year":"2006","journal-title":"Reprod. Toxicol."},{"key":"ref35","doi-asserted-by":"publisher","first-page":"11825-11826","DOI":"10.1073\/pnas.0906430106","article-title":"The Krebs cycle meets the cell cycle: Mitochondria and the G1-S transition.","volume":"106","author":"T Finkel","year":"2009","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"ref36","doi-asserted-by":"publisher","first-page":"1161-1169","DOI":"10.1093\/hmg\/9.8.1161","article-title":"Deletion and expression analysis of AZFa genes on the human Y chromosome revealed a major role for DBY in male infertility.","volume":"9","author":"C Foresta","year":"2000","journal-title":"Hum. Mol. Genet."},{"key":"ref37","doi-asserted-by":"publisher","first-page":"258-262","DOI":"10.1111\/and.12073","article-title":"4977-bp mitochondrial DNA deletion in infertile patients with varicocele.","volume":"46","author":"N Gashti","year":"2014","journal-title":"Andrologia."},{"key":"ref92","doi-asserted-by":"publisher","first-page":"191-194","DOI":"10.1016\/j.gene.2014.05.061","article-title":"Combined deletion of DAZ2 and DAZ4 copies of Y chromosome DAZ gene is associated with male infertility in Tunisian men.","volume":"547","author":"M Ghorbel","year":"2014","journal-title":"Gene."},{"key":"ref38","first-page":"358-362","article-title":"The association between Y chromosome microdeletion and recurrent pregnancy loss.","volume":"14","author":"S Ghorbian","year":"2012","journal-title":"Iran Red. Crescent Med. J."},{"key":"ref39","doi-asserted-by":"publisher","first-page":"92-100","DOI":"10.1111\/j.1439-0272.2012.01317.x","article-title":"Investigation of mutations in the synaptonemal complex protein 3 (SYCP3) gene among azoospermic infertile male patients in the Turkish population.","volume":"45","author":"H Gurkan","year":"2013","journal-title":"Andrologia."},{"key":"ref40","first-page":"205-214","article-title":"Association of two polymorphisms in H2B.W gene with azoospermia and severe oligozoospermia in an Iranian population.","volume":"9","author":"H Haji Ebrahim Zargar","year":"2015","journal-title":"Int. J. Fertil. Steril."},{"key":"ref93","doi-asserted-by":"publisher","first-page":"576-594","DOI":"10.1590\/S1677-55382012000500002","article-title":"Unexplained male infertility: Diagnosis and management.","volume":"38","author":"A Hamada","year":"2012","journal-title":"Int. Braz J Urol."},{"key":"ref41","doi-asserted-by":"publisher","first-page":"32-39","DOI":"10.1038\/aja.2011.66","article-title":"Chromosomal disorders and male infertility.","volume":"14","author":"G Harton","year":"2012","journal-title":"Asian J. Androl."},{"key":"ref42","doi-asserted-by":"publisher","first-page":"3505-3509","DOI":"10.1093\/humrep\/dei254","article-title":"Y chromosome microdeletions: Are they implicated in teratozoospermia?.","volume":"20","author":"A Hellani","year":"2005","journal-title":"Hum. Reprod."},{"key":"ref43","doi-asserted-by":"publisher","first-page":"220-227","DOI":"10.29252\/ibj.23.3.8","article-title":"Identification of two novel mutations in KDM3A regulatory gene in iranian infertile males.","volume":"23","author":"Z Hojati","year":"2019","journal-title":"Iran. Biomed. J."},{"key":"ref44","doi-asserted-by":"publisher","first-page":"1660-1665","DOI":"10.1093\/humrep\/deg348","article-title":"Detection of sperm in men with Y chromosome microdeletions of the AZFa, AZFb, and AZFc regions.","volume":"18","author":"C Hopps","year":"2003","journal-title":"Hum. Reprod."},{"key":"ref45","doi-asserted-by":"publisher","first-page":"657-659","DOI":"10.1080\/01443610310001604475","article-title":"High prevalence of male infertility in southeastern Nigeria.","volume":"23","author":"J Ikechebelu","year":"2003","journal-title":"J. Obstet. Gynaecol."},{"key":"ref46","first-page":"275-280","article-title":"FABP9 mutations are not detected in cases of infertility due to sperm morphological defects in Iranian Men.","volume":"7","author":"J Jamshidi","year":"2014","journal-title":"Int. J. Fertil. Steril."},{"key":"ref47","doi-asserted-by":"publisher","first-page":"1029-1032","DOI":"10.1016\/S0015-0282(99)00150-8","article-title":"Transmission of de novo mutations of the deleted in azoospermia genes from a severely oligozoospermic male to a son via intracytoplasmic sperm injection.","volume":"71","author":"M Jiang","year":"1999","journal-title":"Fertil. Steril."},{"key":"ref48","doi-asserted-by":"publisher","first-page":"142","DOI":"10.1038\/s41598-017-17518-4","article-title":"Investigation of piwi-interacting RNA pathway genes role in idiopathic non-obstructive azoospermia.","volume":"8","author":"Z Kamaliyan","year":"2018","journal-title":"Sci. Rep."},{"key":"ref49","doi-asserted-by":"publisher","first-page":"109-113","DOI":"10.5152\/tud.2018.59196","article-title":"Male infertility, azoozpermia and cryptozoospermia incidence among three infertility clinics in Turkey.","volume":"44","author":"S Karabulut","year":"2018","journal-title":"Turk. J. Urol."},{"key":"ref50","doi-asserted-by":"publisher","first-page":"762-768","DOI":"10.1093\/molehr\/gar050","article-title":"A new AURKC mutation causing macrozoospermia: Implications for human spermatogenesis and clinical diagnosis.","volume":"17","author":"M Ben Khelifa","year":"2011","journal-title":"Mol. Hum. Reprod."},{"key":"ref51","doi-asserted-by":"publisher","first-page":"113","DOI":"10.1016\/S0015-0282(03)02098-3","article-title":"Vertical transmission, de novo, and expansion of Y chromosome microdeletion in male fetuses pregnant after intracytoplasmic sperm injection (ICSI).","volume":"80","author":"H Kim","year":"2003","journal-title":"Fertil. Steril."},{"key":"ref52","doi-asserted-by":"publisher","first-page":"292-298","DOI":"10.1111\/iju.13863","article-title":"Male infertility in Sertoli cell-only syndrome: An investigation of autosomal gene defects.","volume":"26","author":"G Koc","year":"2019","journal-title":"Int. J. Urol."},{"key":"ref53","first-page":"1-7","article-title":"The use of genomics, proteomics and metabolomics in identifying biomarkers of male infertility.","volume":"23","author":"J Kovac","year":"2014","journal-title":"Bone."},{"key":"ref54","doi-asserted-by":"publisher","first-page":"1431-1434","DOI":"10.1093\/humrep\/15.7.1431","article-title":"Prognostic value of Y deletion analysis: What it the clinical prognostic value of Y chromosome microdeletion analysis?.","volume":"15","author":"C Krausz","year":"2000","journal-title":"Hum. Reprod."},{"key":"ref55","doi-asserted-by":"publisher","first-page":"481-484","DOI":"10.1126\/science.1112125","article-title":"Medicine: Mitochondrial DNA mutations, oxidative stress, and apoptosis in mammalian aging.","volume":"309","author":"C Kujoth","year":"2005","journal-title":"Science."},{"key":"ref56","doi-asserted-by":"publisher","first-page":"314-322","DOI":"10.1002\/rmb2.12336","article-title":"Genetic disorders and male infertility.","volume":"19","author":"S Kuroda","year":"2020","journal-title":"Reprod. Med. Biol."},{"key":"ref57","doi-asserted-by":"publisher","first-page":"203-207","DOI":"10.1034\/j.1399-0004.2002.620303.x","article-title":"Genotyping of Israeli infertile men with idiopathic oligozoospermia.","volume":"62","author":"I Madgar","year":"2002","journal-title":"Clin. Genet."},{"key":"ref58","doi-asserted-by":"publisher","first-page":"1-12","DOI":"10.1371\/journal.pmed.1001356","article-title":"National, Regional, and Global Trends in Infertility Prevalence Since 1990: A Systematic Analysis of 277 Health Surveys.","volume":"9","author":"M Mascarenhas","year":"2012","journal-title":"PLoS Med."},{"key":"ref59","doi-asserted-by":"publisher","first-page":"139-143","DOI":"10.1111\/j.1439-0272.2010.01152.x","article-title":"Aneuploidy rate in spermatozoa of selected men with severe teratozoospermia.","volume":"44","author":"M Mehdi","year":"2012","journal-title":"Andrologia."},{"key":"ref60","first-page":"265-270","article-title":"High prevalence of AZFb microdeletion in Iranian patients with idiopathic non-obstructive azoospermia.","volume":"132","author":"R Mirfakhraie","year":"2010","journal-title":"Indian J. Med. Res."},{"key":"ref61","doi-asserted-by":"publisher","first-page":"8999-9005","DOI":"10.1002\/jcb.28171","article-title":"Association of the human aryl hydrocarbon receptor repressor (AhRR)-c.565C>G transversion with male infertility: A case-control study from Iran.","volume":"120","author":"A Mohammad-Hasani","year":"2019","journal-title":"J. Cell. Biochem."},{"key":"ref62","doi-asserted-by":"publisher","first-page":"760-767","DOI":"10.1002\/mrd.23051","article-title":"Gene alterations and expression spectrum of SPATA33 in nonobstructive azoospermic Iranian men.","volume":"85","author":"L Monsef","year":"2018","journal-title":"Mol. Reprod. Dev."},{"key":"ref63","doi-asserted-by":"publisher","first-page":"1044-1048","DOI":"10.1111\/and.12537","article-title":"Association of G\/T (rs222859) polymorphism in Exon 1 of YBX2 gene with azoospermia, among Iranian infertile males.","volume":"48","author":"R Najafipour","year":"2016","journal-title":"Andrologia."},{"key":"ref64","doi-asserted-by":"publisher","first-page":"e13872","DOI":"10.1111\/and.13872","article-title":"Identification of the PRM1 gene mutations in oligoasthenoteratozoospermic men.","volume":"52","author":"M Nasirshalal","year":"2020","journal-title":"Andrologia."},{"key":"ref94","doi-asserted-by":"publisher","first-page":"816-824","DOI":"10.1111\/andr.12210","article-title":"A comprehensive investigation of sperm DNA damage and oxidative stress injury in infertile patients with subclinical, normozoospermic, and astheno\/oligozoospermic clinical varicocoele.","volume":"4","author":"K Ni","year":"2016","journal-title":"Andrology."},{"key":"ref65","doi-asserted-by":"publisher","first-page":"347-351","DOI":"10.3906\/sag-1301-67","article-title":"Clinical and prognostic importance of chromosomal abnormalities, Y chromosome microdeletions, and CFTR gene mutations in individuals with azoospermia or severe oligospermia.","volume":"44","author":"Z Ocak","year":"2014","journal-title":"Turk. J. Med. Sci."},{"key":"ref66","doi-asserted-by":"publisher","first-page":"946-952","DOI":"10.1093\/humrep\/14.4.946","article-title":"Klinefelter\u2019s syndrome in the male infertility clinic.","volume":"14","author":"H Okada","year":"1999","journal-title":"Hum. Reprod."},{"key":"ref68","doi-asserted-by":"publisher","first-page":"451-458","DOI":"10.1007\/s10815-019-01660-1","article-title":"The second mutation of SYCE1 gene associated with autosomal recessive nonobstructive azoospermia.","volume":"37","author":"M Pashaei","year":"2020","journal-title":"J. Assist. Reprod. Genet."},{"key":"ref95","doi-asserted-by":"publisher","first-page":"509-520","DOI":"10.1007\/s10815-014-0425-7","article-title":"Contemporary evidence on the physiological role of reactive oxygen species in human sperm function.","volume":"32","author":"S Du Plessis","year":"2015","journal-title":"J. Assist. Reprod. Genet."},{"key":"ref96","doi-asserted-by":"publisher","first-page":"206-210","DOI":"10.1111\/j.1439-0272.2009.00980.x","article-title":"Effects of H2O2 exposure on human sperm motility parameters, reactive oxygen species levels and nitric oxide levels.","volume":"42","author":"S Du Plessis","year":"2010","journal-title":"Andrologia."},{"key":"ref69","first-page":"336-347","article-title":"Genetics of human male infertility.","volume":"50","author":"J Poongothai","year":"2009","journal-title":"Singap. Med. J."},{"key":"ref70","doi-asserted-by":"publisher","first-page":"18-31","DOI":"10.1093\/humrep\/dew284","article-title":"Causes of male infertility: A 9-year prospective monocentre study on 1737 patients with reduced total sperm counts.","volume":"32","author":"M Punab","year":"2017","journal-title":"Hum. Reprod."},{"key":"ref71","first-page":"192-206","article-title":"Genetics of azoospermia: current knowledge, clinical implications, and future directions. Part II: Y chromosome microdeletions.","volume":"4","author":"H Sadeghi-Nejad","year":"2007","journal-title":"Urol. J."},{"key":"ref72","doi-asserted-by":"publisher","first-page":"931-934","DOI":"10.1089\/gtmb.2011.0378","article-title":"Discrepancy in the frequency of y chromosome microdeletions among iranian infertile men with azoospermia and severe oligozoospermia.","volume":"16","author":"K Saliminejad","year":"2012","journal-title":"Genet. Test. Mol. Biomarkers."},{"key":"ref73","doi-asserted-by":"publisher","first-page":"3-12","DOI":"10.1007\/s10815-009-9359-x","article-title":"Sperm DNA damage in male infertility: Etiologies, assays, and outcomes.","volume":"27","author":"R Schulte","year":"2010","journal-title":"J. Assist. Reprod. Genet."},{"key":"ref74","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2350-11-131","article-title":"A SRY-HMG box frame shift mutation inherited from a mosaic father with a mild form of testicular dysgenesis syndrome in Turner syndrome patient.","volume":"11","author":"M Shahid","year":"2010","journal-title":"BMC Med. Genet."},{"key":"ref75","doi-asserted-by":"publisher","first-page":"57-61","DOI":"10.14715\/cmb\/2017.63.2.8","article-title":"TTY2 genes deletions as genetic risk factor of male infertility.","volume":"63","author":"F Shaveisi-Zadeh","year":"2017","journal-title":"Cell. Mol. Biol."},{"key":"ref76","doi-asserted-by":"publisher","DOI":"10.4103\/1008-682X.182822","article-title":"A systematic review and meta-analysis to determine the effect of sperm DNA damage on in vitro fertilization and intracytoplasmic sperm injection outcome.","author":"L Simon","year":"2017","journal-title":"Asian J. Androl."},{"key":"ref77","doi-asserted-by":"publisher","first-page":"1540-1555","DOI":"10.1007\/s43032-020-00449-3","article-title":"Impact of Mitochondrial Genetic Variants in ND1, ND2, ND5, and ND6 Genes on Sperm Motility and Intracytoplasmic Sperm Injection (ICSI) Outcomes.","volume":"28","author":"M Al Smadi","year":"2021","journal-title":"Reprod. Sci."},{"key":"ref78","doi-asserted-by":"publisher","first-page":"421-426","DOI":"10.1097\/00063198-200111000-00011","article-title":"Infertility in men with cystic fibrosis.","volume":"7","author":"R Sokol","year":"2001","journal-title":"Curr. Opin. Pulm. Med."},{"key":"ref79","doi-asserted-by":"publisher","first-page":"676-682","DOI":"10.1038\/aja.2012.55","article-title":"Deletion or underexpression of the Y-chromosome genes CDY2 and HSFY is associated with maturation arrest in American men with nonobstructive azoospermia.","volume":"14","author":"P Stahl","year":"2012","journal-title":"Asian J. Androl."},{"key":"ref80","doi-asserted-by":"publisher","first-page":"e41718","DOI":"10.1371\/journal.pone.0041718","article-title":"Proteomic changes in rat spermatogenesis in response to in vivo androgen manipulation; Impact on meiotic cells.","volume":"7","author":"P Stanton","year":"2012","journal-title":"PLoS One."},{"key":"ref81","doi-asserted-by":"publisher","first-page":"10952-10991","DOI":"10.18632\/aging.102497","article-title":"Global, Regional, and National Prevalence and Disability-Adjusted Life-Years for Infertility in 195 Countries and Territories, 1990-2017: Results from a Global Burden of Disease Study, 2017.","volume":"11","author":"H Sun","year":"2019","journal-title":"Aging."},{"key":"ref97","doi-asserted-by":"publisher","first-page":"615-623","DOI":"10.1080\/24701394.2017.1331347","article-title":"Association of sperm mitochondrial DNA deletions with male infertility in an Iranian population.","volume":"29","author":"E Talebi","year":"2018","journal-title":"Mitochondrial DNA Part A DNA Mapp. Seq. Anal."},{"key":"ref82","doi-asserted-by":"publisher","first-page":"847-853","DOI":"10.1007\/s10815-012-9798-7","article-title":"Clinical data for 185 infertile Iranian men with Y-chromosome microdeletion.","volume":"29","author":"M Totonchi","year":"2012","journal-title":"J. Assist. Reprod. Genet."},{"key":"ref83","first-page":"127-137","article-title":"Role of reactive oxygen species in the pathogenesis of mitochondrial DNA (mtDNA) mutations in male infertility.","volume":"129","author":"S Venkatesh","year":"2009","journal-title":"Indian J. Med. Res."},{"key":"ref84","doi-asserted-by":"publisher","first-page":"49-54","DOI":"10.1016\/j.ejogrb.2003.07.006","article-title":"Genetic aspects of human male infertility: The frequency of chromosomal abnormalities and Y chromosome microdeletions in severe male factor infertility.","volume":"117","author":"A Vicdan","year":"2004","journal-title":"Eur. J. Obstet. Gynecol. Reprod. Biol."},{"key":"ref85","doi-asserted-by":"publisher","first-page":"1-15","DOI":"10.3390\/cells8040379","article-title":"Mitochondrial DNA: Distribution, Mutations, and Elimination.","volume":"8","author":"C Yan","year":"2019","journal-title":"Cell."},{"key":"ref86","doi-asserted-by":"publisher","first-page":"921-926","DOI":"10.1007\/s11255-015-0979-z","article-title":"The association of ApE1 \u2212656T>G and 1349T>G polymorphisms and idiopathic male infertility risk.","volume":"47","author":"M Yousefi","year":"2015","journal-title":"Int. Urol. Nephrol."},{"key":"ref87","doi-asserted-by":"publisher","first-page":"240-246","DOI":"10.1038\/aja.2009.63","article-title":"Vertical transmission of the Yq AZFc microdeletion from father to son over two or three generations in infertile Han Chinese families.","volume":"12","author":"X Zhu","year":"2010","journal-title":"Asian J. Androl."}],"container-title":["F1000Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/f1000research.com\/articles\/11-125\/v2\/xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/f1000research.com\/articles\/11-125\/v2\/pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/f1000research.com\/articles\/11-125\/v2\/iparadigms","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,11,7]],"date-time":"2022-11-07T08:40:17Z","timestamp":1667810417000},"score":1,"resource":{"primary":{"URL":"https:\/\/f1000research.com\/articles\/11-125\/v2"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,6,6]]},"references-count":96,"URL":"https:\/\/doi.org\/10.12688\/f1000research.106950.2","relation":{"has-review":[{"id-type":"doi","id":"10.5256\/f1000research.134493.r139754","asserted-by":"subject"},{"id-type":"doi","id":"10.5256\/f1000research.134493.r139755","asserted-by":"subject"},{"id-type":"doi","id":"10.5256\/f1000research.134493.r139755","asserted-by":"object"},{"id-type":"doi","id":"10.5256\/f1000research.134493.r139754","asserted-by":"object"}]},"ISSN":["2046-1402"],"issn-type":[{"value":"2046-1402","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,6,6]]},"assertion":[{"value":"Indexed","URL":"https:\/\/f1000research.com\/articles\/11-125\/v2#article-reports","order":0,"name":"referee-status","label":"Referee status","group":{"name":"current-referee-status","label":"Current Referee Status"}},{"value":"10.5256\/f1000research.134493.r139755, Ma\u0142gorzata Piasecka, Department of Histology and Developmental Biology, Faculty of Health Science, Pomeranian Medical University, Szczecin, Poland, 13 Jun 2022, version 2, indexed","URL":"https:\/\/f1000research.com\/articles\/11-125\/v2#referee-response-139755","order":0,"name":"referee-response-139755","label":"Referee Report","group":{"name":"article-reports","label":"Article Reports"}},{"value":"10.5256\/f1000research.134493.r139754, Arnold Peter Paul Achermann, Department of Surgery, Division of Urology, Faculty of Medical Sciences, University of Campinas (UNICAMP), Campinas, Brazil, 07 Nov 2022, version 2, indexed","URL":"https:\/\/f1000research.com\/articles\/11-125\/v2#referee-response-139754","order":1,"name":"referee-response-139754","label":"Referee Report","group":{"name":"article-reports","label":"Article Reports"}},{"value":"This project was partially supported by the Al Jalila Foundation. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.","order":2,"name":"grant-information","label":"Grant Information"},{"value":"This is an open access article distributed under the terms of the Creative Commons Attribution Licence, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.","order":0,"name":"copyright-info","label":"Copyright"}]}}