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Congenital bilateral absence of the vas deferens as an atypical form of cystic fibrosis: reproductive implications and genetic counseling
Author(s) -
Souza D. A. S.,
Faucz F. R.,
PereiraFerrari L.,
Sotomaior V. S.,
Raskin S.
Publication year - 2018
Publication title -
andrology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.947
H-Index - 43
eISSN - 2047-2927
pISSN - 2047-2919
DOI - 10.1111/andr.12450
Subject(s) - cystic fibrosis , vas deferens , intracytoplasmic sperm injection , obstructive azoospermia , offspring , cystic fibrosis transmembrane conductance regulator , infertility , azoospermia , male infertility , genetic counseling , biology , gynecology , genetics , medicine , endocrinology , pregnancy
Summary 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.