Human Reproduction, Vol. 14, No. 2, 371-374,
February 1999
© 1999 European Society of Human Reproduction and Embryology
The complex relationships between cystic fibrosis and congenital bilateral absence of the vas deferens: clinical, electrophysiological and genetic data
1 Department of Andrology, 2 Paediatrics, 3 Pulmonary Diseases, 4 Clinical Genetics and 5 Urology, University Hospital Dijkzigt and Erasmus University, Rotterdam, The Netherlands
Congenital bilateral absence of the vas deferens (CBAVD) is found in 1–2% of infertile males and in most male cystic fibrosis (CF) patients. CF and some of the CBAVD cases were found to share the same genetic background. In this study, 21 males with CBAVD had extensive physical and laboratory testing for symptoms of CF. Possible defective cellular chloride transport was measured by interstitial current measurement of rectal suction biopsies. Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutation analysis was performed for 10 common CFTR mutations. CF-related symptoms were found in six men. On laboratory testing slightly abnormal liver and pancreatic function was found in seven patients. The sweat test was found to be abnormal in four patients; interstitial current measurement showed defective chloride excretion in 11 patients. CFTR gene mutations were found in 66% of the patients: eight were compound heterozygotes; in six, only one common mutation could be detected. The 5T allele in one copy of intron 8 was found in four men. CBAVD appears to be a heterogeneous clinical and genetic condition. A CFTR gene mutation was found in both copies of the allele or interstitial current measurement showed defective chloride excretion in 14/21 cases. Genetic counselling is clearly indicated for couples seeking pregnancy through epididymal or testicular sperm aspiration and intracytoplasmic sperm injection.
Key words: CFTR gene analysis/clinical symptoms/congenital bilateral absence of the vas deferens/cystic fibrosis/intestinal current measurement
6 To whom correspondence should be addressed at: Department of Urology, University Hospital Rotterdam, Dr. Molewaterplein 40, 3015 GD Rotterdam, The Netherlands
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