• PMID: 22390181
• Gene Name: CFTR
• Condition: Male infertility, congenital bilateral absence of vas deferens (CBAVD)
• Association: Associated
• Mutation: F508del, A455E
• Population size: 1
• Population details: 1 infertile men with CBAVD
• Age: 49 yrs
• Sex: Male
• Infertility type: Male infertility
• Associated genes: CFTR
• Other associated phenotypes: Male infertility, congenital bilateral absence of vas deferens (CBAVD)

Management of male infertility due to congenital bilateral absence of vas deferens should not ignore the diagnosis of cystic fibrosis

Grzegorczyk V, Rives N, Sibert L, Dominique S, Macé B.

Microsurgical or percutaneous epididymal sperm aspiration and intracytoplasmic sperm injection (ICSI) are proposed to overcome male infertility due to congenital bilateral absence of vas deferens (CBAVD). CBAVD has been associated with mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene and consequently, genetic counselling has to be addressed before beginning ICSI procedure. However, management of male infertility due to CBAVD should not ignore a mild form of cystic fibrosis. We describe the case of cystic fibrosis late diagnosis performed in a 49-year-old infertile men with CBAVD. CFTR molecular testing detected two mutations F508del and A455E corresponding to a cystic fibrosis genotype. Pneumological evaluation revealed a severe obstructive respiratory disease, bronchiectasis and high sweat chloride levels. Symptoms consistent with a cystic fibrosis have to be identified in infertile men with CBAVD before beginning assisted reproductive procedures. CI - © 2012 Blackwell Verlag GmbH. FAU - Grzegorczyk, V AU - Grzegorczyk V AD - EA 4308 Spermatogenesis and Male Gamete Quality, Reproductive Biology Laboratory, CECOS, Rouen University Hospital, Institute for Biomedical Research, University of Rouen, Rouen, France. FAU - Rives, N AU - Rives N FAU - Sibert, L AU - Sibert L FAU - Dominique, S AU - Dominique S