Related Experiment Videos
Infertility in men with cystic fibrosis
1Department of Obstetrics, Gynecology, University of Southern California Keck School of Medicine, Los Angeles, California, USA. rsokol@hsc.usc.edu
Insights
Men with cystic fibrosis (CF) often have congenital bilateral absence of the vas deferens (CBVAD), leading to obstructive azoospermia. Genetic testing for CFTR mutations, including the 5T allele, is crucial for fertility options.
Area of Science:
- Reproductive Medicine
- Genetics
- Urology
Background:
- Cystic fibrosis (CF) is a genetic disorder affecting multiple organs.
- Men with CF frequently present with congenital bilateral absence of the vas deferens (CBVAD), causing obstructive azoospermia.
- CFTR gene mutations are linked to both CF and CBVAD, though presentations vary.
Purpose of the Study:
- To highlight the association between CFTR gene mutations and obstructive azoospermia in men.
- To emphasize the importance of genetic screening for CFTR mutations, including the 5T allele, in cases of obstructive azoospermia.
- To inform about assisted reproductive technologies (ART) for fertility in affected individuals.
Main Methods:
- Review of the genetic basis of CF and its link to male infertility.
- Discussion of diagnostic approaches for CBVAD and CFTR mutations.
- Overview of current ART options for men with CF-related infertility.
Main Results:
- Congenital bilateral absence of the vas deferens (CBVAD) is a common finding in men with cystic fibrosis (CF).
- Obstructive azoospermia, characterized by the absence of sperm in semen, results from CBVAD.
- CFTR gene mutations, including rare variants like the 5T allele, underlie this condition, sometimes without classic CF symptoms.
Conclusions:
- Genetic counseling and testing for CFTR mutations are recommended for men with obstructive azoospermia.
- Assisted reproductive technologies offer viable fertility solutions for men with CF-related infertility.
- Understanding the genetic landscape of CFTR mutations is key to managing male infertility in these cases.
Abstract:
The majority of men with cystic fibrosis (CF) have associated congenital bilateral absence of the vas deferens (CBVAD). This congenital defect results in the absence of the anatomic ducts through which spermatozoa pass from the testes to the urethra. No spermatozoa are found in the semen, a condition referred to as obstructive azoospermia. This abnormality of the genital-urinary system is associated with the same genetic mutation in the cystic fibrosis transmembrane conductance regulator gene (CFTR ), which leads to the classic presentation of a patient with CF. However, patients may have CBVAD and CFTR mutations without symptoms of CF. Screening for the common mutations may miss a milder rare gene alteration: a DNA variant in the 5T allele. With the advent of assisted reproductive technologies, fertility is now possible for these men. The National Institutes of Health recommend genetic counseling for any couple attempting assisted reproductive techniques when the man has CF or presents with obstructive azoospermia and is positive for a CF mutation.