{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T23:00:51Z","timestamp":1790722851247,"version":"4.1.0"},"reference-count":17,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2013,1,2]],"date-time":"2013-01-02T00:00:00Z","timestamp":1357084800000},"content-version":"vor","delay-in-days":1827,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Journal of Andrology"],"published-print":{"date-parts":[[2008,1,2]]},"abstract":"<jats:p><jats:bold>ABSTRACT: <\/jats:bold> Congenital bilateral absence of the vas deferens (CBAVD) and congenital unilateral absence of the vas deferens (CUAVD) are 2 causes of male sterility; these phenotypes are found in 1%\u20132% of men investigated for infertility and approximately 10% of men with azoospermia. To study the correlation between genital phenotype and cystic fibrosis genotype in men lacking at least 1 vas deferens, we evaluated the role of different <jats:italic>CFTR<\/jats:italic> gene mutations in the morphologic genital phenotype of 119 infertile men with bilateral or unilateral absence of the vas deferens (112 CBAVD and 7 CUAVD patients). Renal, scrotal, and transrectal ultrasonography were systematically performed. <jats:italic>CFTR<\/jats:italic> mutations and (TG)m(T)n polymorphism were analyzed, and epididymal and seminal vesicular abnormalities and testicular volume were compared among men with 2, 1, or no <jats:italic>CFTR<\/jats:italic> gene mutation, with or without the <jats:italic>5T<\/jats:italic> allele. Our results showed that patients with CBAVD and renal agenesis have the same reproductive tract abnormalities as those with CUAVD, and reproductive tract abnormalities were independent of the subtypes of <jats:italic>CFTR<\/jats:italic> genotype in patients with absence of the vas deferens and <jats:italic>CFTR<\/jats:italic> gene mutations. Seminal vesicles did not differ between patients with or without <jats:italic>CFTR<\/jats:italic> gene mutation, but epididymal abnormalities were more frequent in CBAVD men without the mutation. Low testicular volume was observed in CBAVD men without the <jats:italic>CFTR<\/jats:italic> and IVS8\u2010<jats:italic>5T<\/jats:italic> mutations, so we can hypothesize that a testicular factor (genetic or environmental) rather than <jats:italic>CFTR<\/jats:italic> gene mutations plays a role in determining the phenotype. Further studies using common diagnostic criteria are required to confirm our observations.<\/jats:p>","DOI":"10.2164\/jandrol.107.002972","type":"journal-article","created":{"date-parts":[[2007,12,21]],"date-time":"2007-12-21T23:52:44Z","timestamp":1198281164000},"page":"35-40","source":"Crossref","is-referenced-by-count":18,"title":["Correlation Between <i>CFTR<\/i> Gene Mutations in Iranian Men With Congenital Absence of the Vas Deferens and Anatomical Genital Phenotype"],"prefix":"10.1002","volume":"29","author":[{"given":"Ramin","family":"Radpour","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hamid","family":"Gourabi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohamad Ali Sadighi","family":"Gilani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ahmad Vosough","family":"Dizaj","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2013,1,2]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199506013322204"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0293-151"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1472-6483(10)60801-2"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/1098-1004(200008)16:2<143::AID-HUMU7>3.0.CO;2-J"},{"key":"e_1_2_6_6_1","unstructured":"Cystic Fibrosis Mutation Database. 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