One form of male infertility linked to cystic fibrosis mutation

New treatments for infertile men mean there is a greater risk of the cystic fibrosis mutation being passed on to resulting children, according to Dr Keith A Jarvi of Mount Sinai Hospital in Toronto at an American Medical Association briefing last week. Jarvi and colleagues, whose findings are published in The Journal of the American Medical Association, assessed how often cystic fibrosis mutations occurred in a group of 149 men with obstructive azoospermia, where no sperm are found in semen samples due to physical obstructions in the genital tracts. The condition is seen in about 1% of all infertile men. One in three of the men tested had cystic fibrosis mutations.

The tests used by the researchers to search out rare forms of cystic fibrosis transmembrane conductance (CFTR) mutations are not normally used in the genetic screening that may be performed during infertility treatment.