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

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

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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

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Correspondence to Mireille Claustres.

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

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Key words

  • Cystic fibrosis
  • bilateral agenesis of the vas deferens
  • genetic counselling

Mots-clés

  • Mucoviscidose
  • Agénésie bilatérale des canaux déférents
  • Conseil génétique