Cai Zhonglin, Li Hongjun
Department of Urology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing, China.
Front Genet. 2022 Feb 11;13:775123. doi: 10.3389/fgene.2022.775123. eCollection 2022.
Congenital bilateral absence of the vas deferens (CBAVD) is clinically characterized by the absence of the bilateral vas deferens; the main clinical manifestation is infertility, accounting for 1-2% of male infertility cases. CBAVD may be accompanied by congenital abnormalities in the urogenital system and cystic fibrosis (CF)-related clinical manifestations. CBAVD can develop as a mild manifestation of CF or can be isolated. The main pathogenic mechanism of CBAVD is gene mutation, and CBAVD and CF have a common genetic mutation background. CFTR mutation is the main pathogenic cause of CBAVD and CF, and ADGRG2 mutation is the second most common cause. Although lack of the vas deferens in CBAVD patients causes infertility due to the inability to release sperm, the testes of CBAVD patients have spermatogenic function. Therefore, CBAVD patients can achieve fertility through sperm retrieval surgery and assisted reproductive technology (ART). However, gene mutations in CBAVD patients can have an impact on the ART outcome, and there is a risk of passing on gene mutations to offspring. For CBAVD patients and their spouses, performing genetic counseling (which currently refers mainly to CFTR mutation screening) helps to reduce the risks of genetic mutations being passed on to offspring and of offspring having CF with concomitant CBAVD.
先天性双侧输精管缺如（CBAVD）的临床特征为双侧输精管缺如；主要临床表现为不育，占男性不育病例的1%-2%。CBAVD可能伴有泌尿生殖系统先天性异常及囊性纤维化（CF）相关临床表现。CBAVD可作为CF的轻度表现出现，也可能是孤立存在的。CBAVD的主要致病机制是基因突变，且CBAVD与CF有共同的基因突变背景。CFTR突变是CBAVD和CF的主要致病原因，ADGRG2突变是第二常见的原因。虽然CBAVD患者因输精管缺如无法排出精子而导致不育，但其睾丸具有生精功能。因此，CBAVD患者可通过取精手术及辅助生殖技术（ART）实现生育。然而，CBAVD患者的基因突变会影响ART结局，且存在将基因突变传递给后代的风险。对于CBAVD患者及其配偶，进行遗传咨询（目前主要指CFTR突变筛查）有助于降低基因突变传递给后代以及后代患CF合并CBAVD的风险。
