Group for Advanced Molecular Investigation (NIMA), School of Health and Biosciences, Pontifícia Universidade Católica do Paraná (PUCPR), Curitiba, PR, Brazil.
Functional Genomics Laboratory, Carlos Chagas Institute, Oswaldo Cruz Foundation, Curitiba, PR, Brazil.
Andrology. 2018 Jan;6(1):127-135. doi: 10.1111/andr.12450. Epub 2017 Dec 7.
Congenital bilateral absence of the vas deferens (CBAVD) is found in 1% to 2% of males with infertility and is present in 6% of obstructive azoospermia cases. Nearly 95% of men with cystic fibrosis (CF, an autosomal recessive disorder) have CBAVD. There are genetic links between CBAVD and CF. Some mutations in the gene encoding cystic fibrosis transmembrane conductance regulator (CFTR) can lead to CBAVD as a monosymptomatic form of CF. With the use of assisted reproductive techniques (ART), especially testicular or epididymal sperm aspiration, intracytoplasmic sperm injection, and in vitro fertilization, it is possible that men with CBAVD can produce offspring. Therefore, genetic counseling should be offered to couples undergoing ART to discuss the probability of having offspring that carry CFTR gene mutations. The aim of this review was to present the main cause of CBAVD, to call attention to its implications for assisted reproduction, and to show the importance of genetic counseling for couples where men have CBAVD, as they can have offspring with a lethal disease.
先天性双侧输精管缺如（CBAVD）在不孕男性中占 1%至 2%，在梗阻性无精子症病例中占 6%。近 95%的囊性纤维化（CF，一种常染色体隐性疾病）男性存在 CBAVD。CBAVD 与 CF 之间存在遗传联系。编码囊性纤维化跨膜电导调节因子（CFTR）的基因突变可导致 CBAVD 作为 CF 的单一症状形式。随着辅助生殖技术（ART）的应用，特别是睾丸或附睾精子抽吸、胞质内精子注射和体外受精，CBAVD 男性有可能生育后代。因此，应向接受 ART 的夫妇提供遗传咨询，以讨论携带 CFTR 基因突变的后代的可能性。本文的目的是介绍 CBAVD 的主要病因，引起对辅助生殖的关注，并展示对患有 CBAVD 的男性夫妇进行遗传咨询的重要性，因为他们可能生育患有致命疾病的后代。
