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Published-Ahead-of-Print June 20, 2008, DOI:10.2164/jandrol.108.005074

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Genetic Investigations of CFTR Mutations in Congenital Absence of Vas Deferens, Uterus and Vagina as a Cause of Infertility

Ramin Radpour *, Hamid Gourabi , Ahmad Vosough Dizaj , Wolfgang Holzgreve , and Xiao Yan Zhong

* To whom correspondence should be addressed. E-mail: radpourr{at}uhbs.ch.

A qualitative diagnosis of infertility requires attention to male and female physical abnormalities including endocrine anomalies and genetic conditions that interfere with reproduction. Many genes are likely to be involved in the complex process of reproduction. Congenital bilateral absence of the vas deferens (CBAVD) is a genital form of cystic fibrosis (CF) which is responsible for 2-6% of male infertility. CF incidence varies in different Caucasians, and therefore the incidence of CBAVD will also vary in different populations. The spectrum and distribution of cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations differs between CBAVD and CF patients, and even is comparable with control individuals. Combinations of particular alleles at several polymorphic loci yield insufficient functional CFTR protein. CFTR mutations are also associated with congenital absence of the uterus and vagina (CAUV). Females with CF are found to be less fertile than normal healthy women. Because of techniques such as intracytoplasmic sperm injection (ICSI), CBAVD patients are now able to father children. Such couples, however, have an increased risk of having a child with cystic fibrosis, and therefore genetic testing and counseling should be provided. Around 10% of obstructive azoospermia is congenital and due to mutations in the CF gene. This review highlights the relationship of mutations in the CFTR gene with CBAVD and CAUV.


Key words: CBAVD • CFTR • Cystic fibrosis transmembrane regulator • congenital absence of the uterus and vagina • congenital bilateral absence of vas deferens






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