Cystic fibrosis as a cause of infertility

Reprod Biol. 2004 Jul;4(2):119-29.


Cystic fibrosis (CF) is one of the autosomal recessive diseases, caused by mutations in a gene known as cystic fibrosis transmembrane regulator (CFTR). The majority of adult males with CF (99%) is characterized by congenital bilateral absence of vas deferens (CBAVD). CBAVD is encountered in 1-2% of infertile males without CF. Females with CF are found to be less fertile than normal healthy women. In females with CF, delayed puberty and amenorrhoea are common due to malnutrition. CFTR mutations are also associated with congenital absence of the uterus and vagina (CAUV). The National Institutes of Health recommend genetic counseling for any couple seeking assisted reproductive techniques with a CF male or obstructive azoospermia which is positive for a CF mutation.

Publication types

  • Review

MeSH terms

  • Cystic Fibrosis / complications*
  • Cystic Fibrosis / genetics
  • Cystic Fibrosis Transmembrane Conductance Regulator / genetics
  • Female
  • Genetic Counseling
  • Humans
  • Infertility, Female / etiology*
  • Infertility, Male / etiology*
  • Male
  • Sequence Deletion
  • Uterus / abnormalities
  • Vagina / abnormalities
  • Vas Deferens / abnormalities


  • CFTR protein, human
  • Cystic Fibrosis Transmembrane Conductance Regulator