Purpose: We evaluated urogenital anomalies in men with congenital abse
nce of the vas deferens. Materials and Methods: A retrospective review
was done of 104 subfertile men with congenital absence of the vas def
erens (84 bilaterally and 20 unilaterally). Results: Of men with unila
teral or bilateral congenital absence of the vas deferens 26 and 11%,
respectively, had renal agenesis. Of men with unilateral congenital ab
sence of the vas deferens and infertility 80% had genitourinary anomal
ies affecting the contralateral testis. No man with congenital absence
of the vas deferens and renal anomalies had cystic fibrosis transmemb
rane-conductance regulator (CFTR) gene mutations detected. Conclusions
: Other urogenital anomalies are common for men with congenital absenc
e of the vas deferens. CFTR gene mutations frequently contribute to ma
ldevelopment of the vas deferens but vasal agenesis can occur without
any evidence of CFTR defects. CFTR abnormalities are rarely detected i
n men with congenital absence of the vas deferens and renal anomalies.