Significance of CFTR gene mutations in patients with congenital aplasia of vas deferens with special regard to renal aplasia

Between 1994 and 2010, a total of 123 patients with obstructive azoospermia due to aplasia of vas deferens (CAVD) were surgically treated. In 110 patients, the condition was bilateral (CBAVD), 13 men had unilateral aplasia (CUAVD), and 10 patients additionally had aplasia of one kidney. All patients underwent CFTR genetic testing, which detected two mutations (homozygous or compound heterozygous condition) in 38%, one mutation in 34% and no mutation in 28% of the patients with CBAVD. Neither the azoospermic patients with congenital unilateral aplasia of vas deferens nor those with CBAVD and renal aplasia were found to have CFTR mutations. The results militate against the assumption that there is an association between the CFTR gene and unilateral aplasia of vas deferens or bilateral aplasia of vas deferens with renal involvement.