Comorbidity of the congenital absence of the vas deferens

Abstract

Congenital absence of the vas deferens (CAVD) is a relatively rare anomaly that may contribute to male infertility. The aim of this study was to evaluate the clinical features of patients with CAVD and to emphasise some pathological conditions that may be detected during the infertility work-up or follow-up of these patients. The charts of 150 males with the diagnosis of CAVD were evaluated retrospectively. The demographic characteristics, reasons for attendance, the way of diagnosis, interventions for infertility before and after attendance, physical examination findings, reproductive hormone levels, semen analysis results, genetical analysis results and resultant live birth events were all included in the study. There were 101 bilateral and 43 unilateral CAVD cases. Thirty-two males (30.2%) had some renal abnormalities. Two cases, one with bilateral and one with unilateral agenesis, died because of colon cancer at a young age. One case with CUAVD had acute lymphoblastic leukaemia. Congenital absence of the vas deferens should not be seen only as a fertility problem because of the many genotypic or phenotypic disorders that may be present with it. These disorders can cause serious general health problems either presently or in future and can also be transmitted to future generations.

Male partners of infertile couples with congenital unilateral absence of the vas deferens are mainly non‐azoospermic

“…We found an URA in 29% of the 59 explored men, a value lower than the 85% and 73% previously reported in two studies but in agreement with results from other studies reporting values from 19% to 41.7% . Altogether, these results indicate that URA is observed in 20%‐40% of men diagnosed with CUAVD.…”

“…For 22 CUAVD men, mean (SEM) semen volume and pH were 2.0 (0.3) mL and 7.0 (0.1), respectively . In 41 CUAVD men, a semen volume > 1.5 mL was observed in 29% and normal semen pH in 32% . As two different diagnoses have been used to define CUAVD (only scrotal palpation in four studies versus TRUS in the last one), no definitive conclusion is possible, but it seems that semen volume is drawing closer the lower reference value for normal semen.…”

“…The first one is the diagnosis of CUAVD. In most studies, CUAVD was diagnosed as the absence of one VD at physical examination . We used the CUAVD definition from Schlegel et al which reflects the developmental anomaly: a complete or partial VD absence on one side and an anatomically complete contralateral VD.…”

“…In all included men, CUAVD diagnosis was uniquely based on scrotal US and TRUS, the only possibility to discriminate unilateral from bilateral absence of VD . Semen characteristics were reported, preventing a bias of selection when men are mainly azoospermic or a loss of crucial information when values of sperm count are missing . The sensitivity of the different methods used for CFTR mutation detection was indicated and presence of CF mutations was made clear.…”

“…Congenital unilateral absence of the vas deferens (CUAVD) is the absence of the structures originating from one Wolffian duct, mainly vas deferens (VD) with an incidence of 0.08%‐1.25% in vasectomized men . As collecting system of the kidney and seminal excretory system share the same Wolffian origin, simultaneous anomalies have been reported in series with an incidence of unilateral renal absence (URA) from 19% to 85% in men with CUAVD …”