• PMID: 7545847
• Gene Name: CFTR
• Condition: Congenital agenesis of the vas deferens
• Association: Case report: Azoospermic man who had undergone exploratory scrototomy because of aplasia of the epididymis and vas deferens
• Mutation: delta F 508, R 117 H
• Population size: 1
• Population details: 1 CAVD
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Congenital agenesis of the vas deferens

[Congenital agenesis of the vas deferens and cystic fibrosis]

Kugler A, Laccone F, Weidner W, Kallerhoff M.

Aspermia caused by absence of the vas deferens is well known in cystic fibrosis. It has been suggested that otherwise healthy males with congenital bilateral absence of the vas deferens (CBAVD), which was previously considered a distinct genetic entity, have an increased frequency of CF gene mutations. CBAVD is now considered to be a mild form of cystic fibrosis. We report the case of an azoospermic man who had undergone exploratory scrototomy because of aplasia of the epididymis and vas deferens. Genetic screening for cystic fibrosis revealed a compound heterozygote for CFTR mutations delta F 508 and R 117 H. FAU - Kugler, A AU - Kugler A AD - Urologische Klinik, Universität Göttingen. FAU - Laccone, F AU - Laccone F FAU - Weidner, W AU - Weidner W