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Human Reproduction, Vol. 15, No. 2, 436-439, February 2000
© 2000 European Society of Human Reproduction and Embryology

Cystic fibrosis gene mutations and infertile men with primary testicular failure

Victor Mak1, Julian Zielenski2, Lap-Chee Tsui2,3, Peter Durie4,5, Armand Zini1,6, Sheelagh Martin1,4, Teresa Barry Longley1 and Keith A. Jarvi1,6,7,8

1 Division of Urology, Department of Surgery, Mount Sinai Hospital, Toronto, Ontario, 2 Department of Genetics, Research Institute, The Hospital for Sick Children, Toronto, Ontario, 3 Department of Molecular and Medical Genetics, University of Toronto, Toronto, Ontario, 4 Programme in Integrative Biology, Research Institute, The Hospital for Sick Children, Toronto, Ontario, 5 Department of Pediatrics, University of Toronto, Toronto, Ontario, 6 Division of Urology, Department of Surgery, University of Toronto, Toronto, Ontario, and 7 Institute of Medical Science, University of Toronto, Toronto, Ontario, Canada

It has been proposed that the gene responsible for cystic fibrosis, called the cystic fibrosis transmembrane conductance regulator (CFTR) gene, may play an important role in the process of spermatogenesis. A group of azoospermic men with primary testicular failure underwent CFTR mutation analysis, including assessment of the intron 8 polythymidine tract (IVS8-T tract). An association was not found between CFTR mutations or the 5T variant of the IVS8-T tract and the primary testicular failure phenotype. This finding suggests that CFTR does not play a significant role in the aetiopathogenesis of primary spermatogenic dysfunction. Therefore, the abnormal testicular histological findings in some post-pubertal men with cystic fibrosis may be a result of nutritional deficiency or testicular obstruction rather than a primary defect in spermatogenesis. In addition, the decreased sperm count in oligozoospermic men with CFTR mutations may be secondary to partial reproductive tract obstruction and not abnormal spermatogenesis. Lastly, routine screening of men with primary testicular failure for CFTR gene mutations is not warranted.

Key words: azoospermia/CFTR mutations/cystic fibrosis/male infertility/testicular failure

8 To whom correspondence should be addressed at: Division of Urology, Department of Surgery, Mount Sinai Hospital, Toronto, Ontario, M5G 1X5, Canada


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