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CONGENITAL ABSENCE OF THE VAS DEFERENS: INCOMPLETE PENETRANCE OF CYSTIC FIBROSIS GENE MUTATIONS

1997; Lippincott Williams & Wilkins; Volume: 158; Issue: 5 Linguagem: Inglês

10.1016/s0022-5347(01)64131-4

1527-3792

David Shin, Fiona J. Gilbert, Marc Goldstein, Peter N. Schlegel,

Child Nutrition and Feeding Issues

No AccessJournal of UrologyClinical Urology: Original Articles1 Nov 1997CONGENITAL ABSENCE OF THE VAS DEFERENS: INCOMPLETE PENETRANCE OF CYSTIC FIBROSIS GENE MUTATIONS David Shin, Fred Gilbert, Marc Goldstein, and Peter N. Schlegel David ShinDavid Shin More articles by this author , Fred GilbertFred Gilbert More articles by this author , Marc GoldsteinMarc Goldstein More articles by this author , and Peter N. SchlegelPeter N. Schlegel More articles by this author View All Author Informationhttps://doi.org/10.1016/S0022-5347(01)64131-4AboutFull TextPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissionsReprints ShareFacebookLinked InTwitterEmail Abstract Purpose: We evaluated the penetrance of cystic fibrosis gene mutations for the clinical phenotype of congenital bilateral absence of the vas deferens. Materials and Methods: We retrospectively reviewed the fertility status of 244 brothers of 105 men with congenital bilateral absence of the vas deferens. Testing for the most common cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations and for haplotype analysis of the intron 8/polythymidine segment was recommended for all men with congenital bilateral absence of the vas deferens. Results: Of 244 brothers of men with congenital bilateral absence of the vas deferens 131 were eligible for assessment of fertility. Of the 131 evaluable brothers only 7 (5%) were found to have congenital bilateral absence of the vas deferens. This prevalence is 5 times lower than that predicted for congenital bilateral absence of the vas deferens (25%) based on the autosomal recessive inheritance pattern seen in classical cystic fibrosis. For couples in which the man has congenital bilateral absence of the vas deferens and the female partner tests negative for standard CFTR gene mutations including 5T analysis, the maximum risk of having a child with congenital bilateral absence of the vas deferens is less than 1.0%. Conclusions: Our data are consistent with incomplete penetrance for the congenital bilateral absence of the vas deferens phenotype after inheritance of cystic fibrosis gene mutations, even after adjusting for environmental factors and wolffian anomalies. Incomplete penetrance may account for a low prevalence of congenital bilateral absence of the vas deferens in the population and may lower the risk of having a child with congenital bilateral absence of the vas deferens for couples undergoing sperm retrieval and assisted reproductive techniques. References 1 : Congenital bilateral absence of the vas deferens. A primarily genital form of cystic fibrosis. J.A.M.A.1992; 267: 1794. Google Scholar 2 : Abnormal distribution of CF delta F508 allele in azoospermic men with congenital aplasia of the epididymis and vas deferens. Lancet1990; 336: 512. Google Scholar 3 : Aetiology of congenital absence of vas deferens: genetic study of three generations. Hum. Reprod.1993; 8: 215. 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Google Scholar 17 : CFTR haplotype analysis reveals genetic heterogeneity in the etiology of congenital bilateral aplasia of the vas deferens. Amer. J. Hum. Genet.1995; 56: 1359. Google Scholar From the James Buchanan Brady Foundation, Departments of Urology and Genetics, New York Hospital-Cornell Medical Center and the Center for Biomedical Research, The Population Council, New York, New York.© 1997 by American Urological Association, Inc.FiguresReferencesRelatedDetailsCited byOKADA H, YOSHIMURA K, FUJIOKA H, TATSUMI N, GOTOH A, FUJISAWA M, GOHJI K, ARAKAWA S, KATO H, KOBAYASHI S, ISOJIMA S, KOSHIDA M and KAMIDONO S (2018) ASSISTED REPRODUCTION TECHNOLOGY FOR PATIENTS WITH CONGENITAL BILATERAL ABSENCE OF VAS DEFERENSJournal of Urology, VOL. 161, NO. 4, (1157-1162), Online publication date: 1-Apr-1999. Volume 158Issue 5November 1997Page: 1794-1799 Advertisement Copyright & Permissions© 1997 by American Urological Association, Inc.MetricsAuthor Information David Shin More articles by this author Fred Gilbert More articles by this author Marc Goldstein More articles by this author Peter N. Schlegel More articles by this author Expand All Advertisement PDF downloadLoading ...