Clinical and genetic features of patients with congenital unilateral absence of the vas deferens.

OBJECTIVES

To review the clinical and genetic findings in men with congenital unilateral absence of the vas deferens (CUAVD). CUAVD is important because of its association with renal anomalies and cystic fibrosis transmembrane conductance regulator gene mutations.

METHODS

A retrospective review of two urologic practices, both with subspecialty interest in male infertility, was performed. Renal imaging and cystic fibrosis (CF) testing were recommended to all men found to have CUAVD.

RESULTS

Fifteen men with CUAVD were identified. Only the 12 men with sufficient clinical data were selected for this study. Three patients had CF mutations, and all had obstruction of the contralateral vas deferens in either the pelvis or retroperitoneum. One patient had obstruction of the contralateral pelvic vas deferens and was negative for all CF mutations tested. Four patients (33%) had renal agenesis. Three patients had ipsilateral renal agenesis, and one had contralateral renal agenesis. No patient with CF mutations had renal agenesis. One had polycystic kidney disease, which was considered an incidental finding.

CONCLUSIONS

Patients with CUAVD may have CF mutations and renal agenesis. Renal ultrasonography and CF testing are therefore recommended for these patients. Patients of reproductive age found to have CUAVD should be counseled about the potential risk of transmission of renal anomalies and CF mutations.