Congenital bilateral absence of vas deferens in the absence of cystic fibrosis

Lancet. 1994 Nov 26;344(8935):1473-4. doi: 10.1016/s0140-6736(94)90292-5.


The high frequency of mutations in the cystic fibrosis gene in patients with congenital bilateral absence of vas deferens (CBAVD) has raised the question whether all of them have a genital form of cystic fibrosis. We investigated 47 CBAVD patients by ultrasonography, 10 (21%) had renal malformations and 37 (79%) did not. In the former group, no cystic fibrosis mutations were found and sweat chloride concentrations were normal. In the latter group, 18 patients (49%) carried at least one cystic fibrosis mutation and sweat chloride was high in 17 of 26 tested (65%). Our findings suggest that CBAVD patients with renal malformations do not necessarily have cystic fibrosis.

MeSH terms

  • Cystic Fibrosis / genetics*
  • Humans
  • Infertility, Male / etiology
  • Kidney / abnormalities*
  • Kidney / diagnostic imaging
  • Male
  • Mutation
  • Ultrasonography
  • Vas Deferens / abnormalities*
  • Vas Deferens / diagnostic imaging