Progress in related pathogenic genes and clinical diagnosis and treatment of congenital bilateral absence of vas deferens
10.3760/cma.j.cn101441-20240505-00158
- VernacularTitle:先天性双侧输精管缺如相关致病基因及临床诊疗进展
- Author:
Wenqiang GUO
1
;
Shifeng GUO
1
;
Kang YANG
1
;
Houyang CHEN
1
Author Information
1. 江西省妇幼保健院辅助生殖中心，南昌 330000
- Publication Type:Journal Article
- Keywords:
Congenital bilateral absence of vas deferens;
Cystic fibrosis transmembrane conductance regulator;
Adhesion G protein-coupled receptor G2;
Solute carrier
- From:
Chinese Journal of Reproduction and Contraception
2024;44(10):1069-1074
- CountryChina
- Language:Chinese
-
Abstract:
Congenital bilateral absence of vas deferens (CBAVD) can lead to obstructive azoospermia, which is one of the common causes of male infertility. The genes involved in the pathogenesis of CBAVD are diverse, and their pathogenic mechanisms are distinctive but related. Meanwhile, given the proportion of CBAVD in infertility, appropriate clinical diagnosis and treatment and genetic counseling are particularly important. In this article, we review the pathogenic mechanism and clinical diagnosis and treatment of CBAVD, to provide reference for clinical diagnosis and treatment and genetic counseling for Chinese patients with CBAVD.
