Urogenital anomalies in men with congenital absence of the vas deferens

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