Clinical and genetic features of congenital absence of the vas deferens: 41 cases report

Abstract

Objective To investigate the diagnostic and therapeutic strategies of congenital absence of the vas deferens (CAVD) and the cystic fibrosis transmembrane conductance regulator (CFTR) mutations in the Chinese Han patients. Methods Forty-one cases of CAVD were recruited and analyzed. Genomic DNA from 21 patients’ blood samples was extracted. 5T and F508 alleles polymophyism were detected by polymerase chain reaction (PCR), and the PCR products were sequenced. Results Twenty cases of CAVD were congenital bilateral absence of the vas deferens (CBAVD), while 14 were congenital bilateral partial aplasia of the vas deferens (CPAVD) and 7 were congenital bilateral partial aplasia of the vas deferens (CUAVD). Forty patients obtained sperm by epididymal fluid, testicular biopsy or M-TESE, while 1 failed in sperm extraction was diagnosed as spermatogenic maturation arrest by testicular biopsy. Four CUAVD patients who had strong demand of natural pregnancy underwent micro-vasoepididymostomy (VE) or transseptal crossover VE treatments, all of which found no sperm after 1-6 months follow-up. Twelve cases were treated with ICSI, 7 of which fathered their children, and 2 wives of which were pregnant. About 42.9% (9/21) patients were detected 5T allele in the polythymidine tract of intron 8, while delta F508del mutation was not detected in any patients. Conclusion The combination of clinical features, laboratory tests, ultrasound and other imaging examinations was crucial to diagnose CAVD. Sperm retrieval combined with ICSI was an efficient approach for CAVD. 5T allele mutation was observed in almost half of Chinese Han patients with CAVD. Delta F508del mutation which was common in Caucasian patients was not found. Key words: Congenital absence of the vas deferens (CAVD); Vasoepididymostomy (VE); Assisted reproductive technology (ART); Cystic fibrosis transmembrane conductance regulator (CFTR)