Differential cellular expression of cystic fibrosis transmembrane regulator in human reproductive tissues. Clues for the infertility in patients with cystic fibrosis

Am J Pathol. 1994 May;144(5):906-14.


Cystic fibrosis (CF) is characterized by a wide spectrum of clinical manifestations, including reproductive problems. Practically all males affected by the disease are infertile due to azoospermia associated with pathology of the male ducts, whereas females with CF have reduced fertility. To study the mechanism of reproductive pathology in CF patients, we analyzed the levels and localization of expression of the cystic fibrosis transmembrane regulator (CFTR) gene in relevant postnatal tissues. Significant expression was detected in the epithelium of the epididymis and vas deferens. Minimal expression, not associated with specific cell types, was seen in the mature testis. In female genitalia, variable levels of expression were seen in the cervical epithelium and fallopian tube. The endometrial epithelium and glands expressed CFTR at high levels only after puberty. No expression was seen in ovaries. Deficient secretory function of CFTR in males but not in females may lead to organ damage probably as a consequence of excessive concentration of viscid luminal contents.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Cervix Uteri / chemistry*
  • Cystic Fibrosis Transmembrane Conductance Regulator
  • Cystic Fibrosis* / complications
  • Endometrium / chemistry*
  • Epididymis / chemistry
  • Fallopian Tubes / chemistry*
  • Female
  • Humans
  • In Situ Hybridization
  • Infant
  • Infant, Newborn
  • Infertility / etiology
  • Male
  • Membrane Proteins / analysis*
  • Testis / chemistry*
  • Vas Deferens / chemistry*


  • CFTR protein, human
  • Membrane Proteins
  • Cystic Fibrosis Transmembrane Conductance Regulator