Human Reproduction, Vol. 11, No. 3, pp. 513-517, 1996
© 1996 European Society of Human Reproduction and Embryology
Cystic fibrosis mutation screening in healthy men with reduced sperm quality
1 Department of Obstetrics and Gynecology, University of Bonn Sigmund Freudstrasse 25, 53127 Bonn, Germany 2 Molecular Genetics Laboratory, The University of Chicago MC2050, 5841 South Maryland Avenue, Chicago, IL 60637 3 Department of Obstetrics and Gynecology, The University of Chicago MC2050, 5841 South Maryland Avenue, Chicago, IL 60637 4 Department of Obstetrics and Gynecology, Northwestern University Medical School Chicago, IL 60611, USA
Correspondence: 5To whom correspondence should be addressed at: Department of Obstetrics and Gynecology, University of Bonn, Sigmund Freudstrasse 25, 53127, Bonn, Germany
The majority of men with cystic fibrosis (CF) are infertile due to a bilateral congenital absence of the vas deferens (CBAVD). However, clinically affected CF patients present a spectrum of genital phenotypes ranging from normal fertility to severely impaired spermatogenesis and CBAVD. Recently, it has become apparent that CF can manifest itself as isolated CBAVD in the absence of other clinical symptoms. The present study was undertaken to test the possible involvement of the CF gene in the aetiology of male infertility other than CBAVD. Semen specimens from 127 unrelated healthy males with various diagnoses of reduced sperm quality were screened for a panel of 13 mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Fourteen of 80 (17.5%) healthy men with infertility due to reduced sperm quality and 3 of 21 (143%) men with azoospermia had at least one CF mutation (one azoospermic male was a compound hetero-zygote). The frequency of mutations in our sample of infertile males was significantly higher than the expected CF carrier frequency in the local population (P = 0.00139). No mutations were found in a control group of 26 individuals with normal semen parameters. This increased frequency of CF mutations in healthy men with reduced sperm quality and in men with azoospermia without CBAVD suggests that the CFTR protein may be involved in the process of spermatogenesis or sperm maturation apart from playing a critical role in the development of the epididymal glands and the vas deferens.
Key words: CFTR mutations/cystic fibrosis/infertility/reduced sperm quality
Submitted on July 24, 1995; accepted on December 8, 1995.
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