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Genetic abnormalities are found in 10%\u201020% of patients showing severe spermatogenesis disorders, including non\u2010obstructive azoospermia.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Literatures covering the relationship between male infertility and genetic disorders or chromosomal abnormalities were studied and summarized.<\/jats:p><\/jats:sec><jats:sec><jats:title>Main findings (Results)<\/jats:title><jats:p>Genetic disorders, including Klinefelter syndrome, balanced reciprocal translocation, Robertsonian translocation, structural abnormalities in Y chromosome, XX male, azoospermic factor (AZF) deletions, and congenital bilateral absence of vas deferens were summarized and discussed from a practical point of view. Among them, understanding on AZF deletions significantly changed owing to advanced elucidation of their pathogenesis. Due to its technical progress, AZF deletion test can reveal their delicate variations and predict the condition of spermatogenesis. Thirty\u2010nine candidate genes possibly responsible for azoospermia have been identified in the last 10\u00a0years owing to the advances in genome sequencing technologies.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Genetic testing for chromosomes and AZF deletions should be examined in cases of severe oligozoospermia and azoospermia. Genetic counseling should be offered before and after genetic testing.<\/jats:p><\/jats:sec>","DOI":"10.1002\/rmb2.12336","type":"journal-article","created":{"date-parts":[[2020,6,27]],"date-time":"2020-06-27T10:58:37Z","timestamp":1593255517000},"page":"314-322","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":75,"title":["Genetic disorders and male infertility"],"prefix":"10.1002","volume":"19","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8890-0297","authenticated-orcid":false,"given":"Shinnosuke","family":"Kuroda","sequence":"first","affiliation":[{"name":"Department of Urology, Reproductive Centre Yokohama City University Medical Centre Kanagawa Japan"},{"name":"Department of Medical Genetics Yokohama City University Medical Centre Kanagawa Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kimitsugu","family":"Usui","sequence":"additional","affiliation":[{"name":"Department of Urology, 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