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Médecine de la Reproduction

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Mutations du gène CFTR et absence de canaux déférents Volume 12, issue 3, juillet-août-septembre 2010

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Authors
Université Lille Nord de France, 59000 Lille, France, Service d'andrologie, CHU de Lille, 59000 Lille, France, Service de gynécologie endocrinienne et médecine de la reproduction, CHU de Lille, 59000 Lille, France, Service de génétique clinique, CHU de Lille, 59000 Lille, France, Laboratoire de spermiologie, CHU de Lille, 59000 Lille, France, Service de génétique moléculaire, CHU de Lille, 59000 Lille, France

Initially described in patients with cystic fibrosis, the absence of one or both vas deferens is usually diagnosed in infertile men in apparent good health. Whether with or without a azoospermia, it requires a careful diagnostic approach to ask the indication to search mutations in the CFTR (cystic fibrosis transmembrane regulator) gene. This will have several consequences for these men but also specifically for the couple. Indeed, the presence of mutations in the CFTR gene in men in apparent good health will require the diagnosis of minor cystic fibrosis. In this situation, medical monitoring will be necessary to prevent a health's deterioration. Moreover, if the wife is also carrying at least one CFTR gene mutation, genetic counseling is needed to assess the transmission's risk of a severe form of cystic fibrosis in the potential descendants and, if necessary, to discuss indication of a prenatal or preimplantation genetic diagnosis