The incidence of cystic fibrosis gene mutations in patients with congenital bilateral absence of the vas deferens in Scotland

OBJECTIVE: To examine the incidence of cystic fibrosis transmembrane-conductance regulator (CFTR) gene mutations in Scottish patients with congenital bilateral absence of the vas deferens (CBAVD). PATIENTS AND METHODS: Thirty patients with CBAVD presenting consecutively to the Edinburgh infertility clinic were examined for CFTR gene mutations. All patients were assessed clinically and tested for 15 gene mutations using a single-tube polymerase chain-reaction multiplex system. RESULTS: All patients were in good health and without clinical evidence of cystic fibrosis. CFTR gene mutations were found in 70% of patients with CBAVD. CONCLUSION: CFTR gene-testing and genetic counselling are important in all men with CBAVD.