Cystic fibrosis and fertility

Purpose of review As the life expectancy of cystic fibrosis (CF) patients continues to increase, and more patients become adults with a chronic disease, researching the impact of the disorder on male and female infertility has become increasingly important. Studies suggest that the prevalence of CF mutations may be higher than previously thought and that many mutations are yet to be identified. Recent findings Assisted reproductive technologies can help both infertile male and female patients with CF in achieving successful parenthood. In addition, for women more health characteristics including baseline pulmonary function have been evaluated as predictors of health and pregnancy outcomes. Summary Mutations in the CF Transmembrane Conductance Regulator (CFTR) gene affect both male and female fertility; however, not all CFTR mutations appear to cause infertility. Although most men with CF have significant anatomical abnormalities of the reproductive tract causing infertility, most women with CF have anatomically normal reproductive tracts and up to half may be able to conceive spontaneously. Less is known about how CF affects female fertility or the treatment options available.