Urogenital anomalies and genetic defects in men with bilateral congenital absence of the vas deferens

Urogenital anomalies and associated genetic abnormalities are commonly found in men with bilateral congenital absence of the vas deferens(BCAVD). Using a definition of vasal agenesis that includes any man with surgically unreconstructable absence of any segment of the vas deferens, 187 men at our center were diagnosed with BCAVD and evaluated Genetic abnormalities of the cystic fibrosis gene were detected in 63/110 (57%) of men evaluated. Of 47 men who underwent evaluation of intron 8/5T allele, 22/47 (48%) men had the ST anomaly detected Renal anomalies were present in 12/83 (14%) of men evaluated with renal ultrasound or intravenous pyelography. Seminal vesicles were bilaterally absent in 45% of evaluated men with BCAVD, whereas normal or dilated seminal vesicles were detected in the remainder of men. Despite the presence of a low volume, acidic semen specimen, fructose was qualitatively detectable in semen for 30% of men. 50% of men who had evaluation of antisperm antibodies (prior to any surgical procedures) had > 20% binding on an indirect immunobead evaluation. Population-based evaluation of the frequency of BCAVD, compared to the gene frequency of cystic fibrosis (CF) genetic anomalies suggests that the penetrance of CF genetic anomalies Is low. This hypothesis was confirmed in a cohort of the brothers of men with documented BCAVD. Of 131 evaluable brothers of men with BCAVD, only 7 brothers (5%) had BCAVD, far lower than the expected 25% frequency of BCAVD. Therefore, the penetrance of CF anomalies to cause the condition of BCAVD is low, approximately 20% of that expected. An understanding of these anomalies, and the common genetic basis for maldevelopment of Wolffian duct structures is critical for the practitioner diagnosing and subsequently caring for a couple where the man has BCAVD.