Correlation between CFTR gene mutations in Iranian men with congenital absence of the vas deferens and anatomical genital phenotype

Congenital bilateral absence of the vas deferens (CBAVD) and congenital unilateral absence of the vas deferens (CUAVD) are 2 causes of male sterility; these phenotypes are found in 1%-2% of men investigated for infertility and approximately 10% of men with azoospermia. To study the correlation between genital phenotype and cystic fibrosis genotype in men lacking at least 1 vas deferens, we evaluated the role of different CFTR gene mutations in the morphologic genital phenotype of 119 infertile men with bilateral or unilateral absence of the vas deferens (112 CBAVD and 7 CUAVD patients). Renal, scrotal, and transrectal ultrasonography were systematically performed. CFTR mutations and (TG)m(T)n polymorphism were analyzed, and epididymal and seminal vesicular abnormalities and testicular volume were compared among men with 2, 1, or no CFTR gene mutation, with or without the 5T allele. Our results showed that patients with CBAVD and renal agenesis have the same reproductive tract abnormalities as those with CUAVD, and reproductive tract abnormalities were independent of the subtypes of CFTR genotype in patients with absence of the vas deferens and CFTR gene mutations. Seminal vesicles did not differ between patients with or without CFTR gene mutation, but epididymal abnormalities were more frequent in CBAVD men without the mutation. Low testicular volume was observed in CBAVD men without the CFTR and IVS8-5T mutations, so we can hypothesize that a testicular factor (genetic or environmental) rather than CFTR gene mutations plays a role in determining the phenotype. Further studies using common diagnostic criteria are required to confirm our observations.