• PMID: 8627844
• Gene Name: CFTR
• Condition: congenital absence of the vas deferens
• Association: 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 anamalies affecting the contralate
• Population size: 104
• Population details: 104 subfertile men with congenital absence of the vas deferens (84 bilaterally and 20 unilaterally)
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: congenital absence of the vas deferens

Urogenital anomalies in men with congenital absence of the vas deferens

Schlegel PN, Shin D, Goldstein M.

PURPOSE: We evaluated urogenital anomalies in men with congenital absence of the vas deferens. METHODS AND MATERIALS: 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 anamalies 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. FAU - Schlegel, P N AU - Schlegel PN AD - Center for Male Reproductive Medicine and Microsurgery, James Buchanan Brady Foundation, New York, USA. FAU - Shin, D AU - Shin D