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.