{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,11]],"date-time":"2026-08-11T23:45:34Z","timestamp":1786491934991,"version":"build-2736575974"},"reference-count":43,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2020,11,7]],"date-time":"2020-11-07T00:00:00Z","timestamp":1604707200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Andrology"],"published-print":{"date-parts":[[2021,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Men with obstructive azoospermia (OA) due to impaired development of the genital tract often carry at least one Cystic Fibrosis Transmembrane Conductance Regulator <jats:italic>CFTR<\/jats:italic> mutation.<\/jats:p><\/jats:sec><jats:sec><jats:title>Objective<\/jats:title><jats:p>To determine the frequency of Congenital Bilateral Absence of <jats:italic>Vas deferens<\/jats:italic> (CBAVD) in men with azoospermia carrying <jats:italic>CFTR<\/jats:italic> gene mutations.<\/jats:p><\/jats:sec><jats:sec><jats:title>Materials and methods<\/jats:title><jats:p>Non\u2010vasectomized men with azoospermia referred to our andrological center were consecutively included. All men underwent palpation of the scrotal parts of the <jats:italic>Vasa deferentia<\/jats:italic>, ultrasonography of the testicles and hormone profile, and genetic analyses. Testicular biopsy was usually performed. A panel of 32 of the most important <jats:italic>CFTR<\/jats:italic> mutations was examined from genomic DNA isolated from blood lymphocytes. Either multiplex PCR analysis or a next\u2010generation sequencing technique was performed.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Among the 639 men with azoospermia, 69 (10.8%) had at least one <jats:italic>CFTR<\/jats:italic> mutation. Of the 43 patients with at least one of the two <jats:italic>CFTR<\/jats:italic> mutations, <jats:italic>\u0394F508<\/jats:italic> and <jats:italic>R117H<\/jats:italic>, 19 (44.2%) showed CBAVD, 2 (4.7%) Congenital Unilateral Absence of Vas deferens (CUAVD), and 22 (51.2%) presence of the scrotal parts of the <jats:italic>Vasa deferentia<\/jats:italic>. In contrast, only 1\/21 men (4.8%) with an isolated <jats:italic>IVS8\u20105T<\/jats:italic> variant showed CBAVD. Among the further 20 men with an isolated IVS8\u20105T variant, 11 had a history of cryptorchidism. Among the 570 men without <jats:italic>CFTR<\/jats:italic> mutations, CBAVD was found in only two men and CUAVD in one. FSH level was higher and testicular volume lower in men with present <jats:italic>Vasa deferentia<\/jats:italic> compared to those without (<jats:italic>P<\/jats:italic>\u00a0&lt;\u00a0.001; Student's t test). Thirty\u2010one men with either <jats:italic>\u0394F508<\/jats:italic> or <jats:italic>R117H<\/jats:italic> mutations, or both, had a testicular biopsy. Motile spermatozoa were found in 100% of 16 cases with CBAVD but in only 6 out of 15 cases with present <jats:italic>Vasa deferentia<\/jats:italic> (<jats:italic>P<\/jats:italic>\u00a0&lt;\u00a0.01; Fisher's exact test).<\/jats:p><\/jats:sec><jats:sec><jats:title>Discussion and conclusions<\/jats:title><jats:p>CBAVD was found in\u00a0~\u00a044% of men with \u0394F508\/R117H mutations. The data may support that CFTR mutations might affect male fertility through other mechanisms than obstruction of the genital tract. For a practical, clinical purpose analysis for only <jats:italic>\u0394F508<\/jats:italic>, <jats:italic>R117H<\/jats:italic> and <jats:italic>IVS8\u20105T<\/jats:italic> seems sufficient until further research shows anything else.<\/jats:p><\/jats:sec>","DOI":"10.1111\/andr.12925","type":"journal-article","created":{"date-parts":[[2020,10,23]],"date-time":"2020-10-23T18:49:07Z","timestamp":1603478947000},"page":"588-598","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":27,"title":["Prevalence of CBAVD in azoospermic men carrying pathogenic <i>CFTR<\/i> mutations \u2010 Evaluated in a cohort of 639 non\u2010vasectomized azoospermic men"],"prefix":"10.1111","volume":"9","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5383-5501","authenticated-orcid":false,"given":"Jens","family":"Fedder","sequence":"first","affiliation":[{"name":"Centre of Andrology &amp; Fertility Clinic Odense University Hospital Odense Denmark"},{"name":"Institute of Clinical Medicine University of Southern Denmark Odense Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mette W.","family":"J\u00f8rgensen","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Lillebaelt Hospital Vejle Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Birte","family":"Engvad","sequence":"additional","affiliation":[{"name":"Department of Pathology Odense University Hospital Odense Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,11,7]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM196807112790203"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/humrep\/der377"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/humupd\/dms027"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.2475911"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.2570460"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.29252\/ibj.23.2.92"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/molehr\/gau047"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jcf.2012.01.005"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1097\/00125817-200209000-00010"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.fertnstert.2004.06.035"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1093\/humrep\/15.2.436"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/7.11.1739"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.3109\/19396368.2010.550796"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-5347(17)38662-7"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.2047-2927.2013.00083.x"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1111\/andr.12291"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0015-0282(00)00655-5"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1111\/and.13202"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.urology.2015.06.044"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.5858\/2009-0379-RA.1"},{"key":"e_1_2_9_22_1","doi-asserted-by":"publisher","DOI":"10.1093\/humrep\/del279"},{"key":"e_1_2_9_23_1","doi-asserted-by":"publisher","DOI":"10.1093\/humrep\/15.7.1476"},{"key":"e_1_2_9_24_1","doi-asserted-by":"crossref","first-page":"527","DOI":"10.1016\/S0094-0143(21)01757-2","article-title":"Vasoepididymostomy","volume":"14","author":"Thomas AJ","year":"1987","journal-title":"Urol Clin North Am"},{"key":"e_1_2_9_25_1","doi-asserted-by":"publisher","DOI":"10.1093\/humrep\/deh462"},{"key":"e_1_2_9_26_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10815-011-9632-7"},{"key":"e_1_2_9_27_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2014.07.005"},{"key":"e_1_2_9_28_1","doi-asserted-by":"publisher","DOI":"10.1038\/aja.2012.43"},{"key":"e_1_2_9_29_1","first-page":"365","article-title":"Distinct spectrum of CFTR gene mutations in congenital absence of the vas deferens","volume":"100","author":"D\u00f6rk T","year":"1997","journal-title":"Hum Reprod"},{"key":"e_1_2_9_30_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-5347(17)61343-0"},{"key":"e_1_2_9_31_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.fertnstert.2015.07.1143"},{"key":"e_1_2_9_32_1","first-page":"906","article-title":"Differential cellular expression of cystic fibrosis transmembrane regulator in human reproductive tissues. 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