Infertility in men with cystic fibrosis

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.