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CBAVD is usually discovered in adult men either during the systematic assessment of cystic fibrosis or other <jats:italic>CFTR<\/jats:italic>-related conditions, or during the exploration of isolated infertility with obstructive azoospermia. The prevalence of CAVDs in men is reported to be approximately 0.1%. However, this figure is probably underestimated, because unilateral forms of CAVD in asymptomatic fertile men are not usually diagnosed.\u00a0The diagnosis of CAVDs is based on clinical, ultrasound, and sperm examinations.\u00a0The majority of subjects with CAVD carry at least one cystic fibrosis-causing mutation that warrants <jats:italic>CFTR<\/jats:italic> testing and in case of a positive result, genetic counseling prior to conception.\u00a0Approximately 2% of the cases of CAVD are hemizygous for a loss-of-function mutation in the <jats:italic>ADGRG2<\/jats:italic> gene that may cause a familial form of X-linked infertility.\u00a0However, despite this recent finding, 10\u201320% of CBAVDs and 60\u201370% of CUAVDs remain without a genetic diagnosis.\u00a0An important proportion of these unexplained CAVDs coexist with a solitary kidney suggesting an early organogenesis disorder (Wolffian duct), unlike CAVDs related to <jats:italic>CFTR<\/jats:italic> or <jats:italic>ADGRG2<\/jats:italic> mutations, which might be the result of progressive degeneration that begins later in fetal life and probably continues after birth. How the dysfunction of <jats:italic>CFTR<\/jats:italic>, <jats:italic>ADGRG2,<\/jats:italic> or other genes such as <jats:italic>SLC29A3<\/jats:italic> leads to this involution is the subject of various pathophysiological hypotheses that are discussed in this review.<\/jats:p>","DOI":"10.1007\/s00439-020-02122-w","type":"journal-article","created":{"date-parts":[[2020,2,5]],"date-time":"2020-02-05T14:03:48Z","timestamp":1580911428000},"page":"59-76","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":109,"title":["Genetics of the congenital absence of the vas deferens"],"prefix":"10.1007","volume":"140","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3126-5493","authenticated-orcid":false,"given":"Eric","family":"Bieth","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Safouane M.","family":"Hamdi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roger","family":"Mieusset","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2020,2,5]]},"reference":[{"key":"2122_CR1","doi-asserted-by":"publisher","first-page":"e12994","DOI":"10.1111\/and.12994","volume":"50","author":"EC Akinsal","year":"2018","unstructured":"Akinsal EC, Baydilli N, Dogan ME, Ekmekcioglu O (2018) Comorbidity of the congenital absence of the vas deferens. 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