Skip to main content
  • Genetique
  • Published:

Absence congenitale des canaux deferents: Phenotype genital de la mucoviscidose?

Congenital bilateral absence of the vas deferens: A phenotypic concomitant of cystic fibrosis?

Abstract

Because spermatogenesis is typically normal in men with bilateral agenesis of the vas deferens, epididymal sperm recovery for subsequent use in in-vitro fertilization (IVF) has recently been proposed for such patients. The discovery of the presence of mutations in the cystic fibrosis gene in such patients has indicated that this disease might constitute a genital phenotypie concomitant of cystic fibrosis, and has profound genetic implications if the spouse is heterozygous. Testing for mutations of the cystic fibrosis gene, and the provision of genetic counselling as appropriate, should be performed in patients, and their partners, when IVF is being considered for such couples presenting with infertility. The main characteristics of the cystic fibrosis gene and its mutations are discussed, with particular reference to problems in identifying mutations among the 27 exons encoding the gene’s product

Resume

La spermatogénèse des sujets atteints d’agénésie bilatérale des canaux déférents étant habituellement normale, un prélèvement de sperme au niveau de l’épididyme suivi d’une fécondation in vitro vient d’être récemment proposé aux couples concernés. La démonstration, (publiée en avril 1992), chez ces patients, de la présence de mutations dans le gène de la mucoviscidose, identifie cette maladie comme un phénotype génital probable de mucoviscidose et pose le problème du risque pour la descendance si l’épouse est hétérozygote. Nous rappelons les principales caractéristiques de ce gène et de ses mutations, et attirons l’attention sur la nécessité de prévoir un conseil génétique adapté à ces couples qui consultent pour infertilité

References

  1. -Anguiano A, Oates RD, Amos JA, et al.: Congenital bilateral absence of the vas deferens. A primarily genital form of cystic fibrosis. JAMA 1992, 267: 1794–1979.

    Article  PubMed  CAS  Google Scholar 

  2. -The Cystic Fibrosis Genetic Analysis Consortium. World wide survey of the ΔF508 mutation: report from the CFGAC. Am J Genet, 1990, 47: 354–359.

    Google Scholar 

  3. -Dumur V, Gervais R, Rigot JM, et al.: Abnormal distribution of CF ΔF508 allele in azoospermic men with congenital aplasia of epididymis and vas deferens. Lancet 1990, 336: 512.

    Article  PubMed  CAS  Google Scholar 

  4. -European working group on CF genetics (EWGCFG): Gradient of distribution in Europe of the major CF mutation and of its asociated haplotypes. Hum Genet 1990, 85: 436–445.

    Article  Google Scholar 

  5. -Kerem E, Corey M, Kerem B, et al.: The relation between genotype and phenotype in cystic fibrosis: analysis of the most common mutation (ΔF508). N Engl J Med, 1990, 323: 1522.

    Google Scholar 

  6. -Kerem BS, Rommens JM, Buchanan JA, et al.: Identification of the cystic fibrosis gene: genetic analsysis. Science 1989, 245: 1073–1080.

    Article  PubMed  CAS  Google Scholar 

  7. -Orita M, Susuki Y, Sekiya T, et al.: Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction. Genomics, 1989, 5: 874–879.

    Article  PubMed  CAS  Google Scholar 

  8. -Rigot JM, Laffitte JJ, DumurV, et al.: Cystic fibrosis and congenital absence of the vas deferens. N Engl J Med, 1991, 325: 65–66.

    Google Scholar 

  9. -RiordanJR, Rommens JM, Kerem BS, et al.: Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. Science 1989, 245: 1066–1073.

    Article  PubMed  CAS  Google Scholar 

  10. -Rommens J, Ianuzzi MC, Kerem BC, et al.: Identification of the cystic fibrosis: chromosome walking and jumping. Science 1989, 245: 1059–1065.

    Article  PubMed  CAS  Google Scholar 

  11. -Scheller TM, Van Strattent A.: Autosomal recessive hereditary congenital aplasia of the vas deferentia in four siblings. Fertil. Steril. 1980, 35: 401–404.

    Google Scholar 

  12. -Silber J, Ord T, Balmaceda J, Patrizio P, Ash RH.: Congenital absence of the vas deferens. The fertilizing capacity of human epididymal sperm. N Engl J Med, 1990, 323: 1788–1792.

    Article  PubMed  CAS  Google Scholar 

  13. -Tsui LC, Buchwald M, Barker D, et al.: Cystic fibrosis locus defined by a genetically polymorphic DNA marker. Science 1985, 230: 1054–1057.

    Article  PubMed  CAS  Google Scholar 

  14. -Zielenski J, Rozmahel R, Bozon D, et al.: Genomic DNA sequence of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Genomics, 1991, 10: 214–228.

    Article  PubMed  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Rights and permissions

Reprints and permissions

About this article

Cite this article

Claustres, M. Absence congenitale des canaux deferents: Phenotype genital de la mucoviscidose?. Androl. 2, 53–55 (1992). https://doi.org/10.1007/BF03034218

Download citation

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF03034218

Key words

Mots-clés