Clinical findings in congenital absence of the vasa deferentia

In a clinical study, 105 patients with congenital bilateral absence of the vas deferens (CBAVD) and 18 with congenital unilateral absence of the vas deferens (CUAVD) were investigated. CUAVD was observed on the left side in 66%. Renal agenesis was more frequent in CUAVD (73.7%) than in CBAVD (11.8%). The leading signs of CBAVD are low pH level (average 6.5) and low volume of the ejaculate (average 0.95 ml). Testicular biopsies of 52 patients revealed normal spermatogenesis or hypospermatogenesis (33% in CBAVD; 45% in CUAVD). Genetic probing and counselling concerning cystic fibrosis are necessary if extracorporal micro-fertilization is considered. The absence of the vas deferens was often overlooked by the first investigator, the average time until correct diagnosis being 4.3 years. As artificial reproduction technology becomes more common, detection of vasal agenesis will certainly be made earlier and more frequently in the future. In order to assure compatibility of subsequent prospective studies about CBAVD and CUAVD, the following investigations are considered to be necessary: (i) semen analysis (pH, volume); (ii) renal ultrasonography or excretory urogram (screening for renal agenesis); (iii) genetic cystic fibrosis screening.