Cystic fibrosis gene mutations and infertile men with primary testicular failure

It has been proposed that the gene responsible for cystic fibrosis, called the cystic fibrosis transmembrane conductance regulator (CFTR) gene, may pl ay an important role in the process of spermatogenesis. A group of azoosper mic men with primary testicular failure underwent CFTR mutation analysis, i ncluding assessment of the intron 8 polythymidine tract (IVS8-T tract). An association was not found between CFTR mutations or the 5T variant of the I VS8-T tract and the primary testicular failure phenotype. This finding sugg ests that CFTR does not play a significant role in the aetiopathogenesis of primary spermatogenic dysfunction. Therefore, the abnormal testicular hist ological findings in some post-pubertal men with cystic fibrosis may be a r esult of nutritional deficiency or testicular obstruction rather than a pri mary defect in spermatogenesis. In addition, the decreased sperm count in o ligozoospermic men with CFTR mutations may be secondary to partial reproduc tive tract obstruction and not abnormal spermatogenesis. Lastly, routine sc reening of men with primary testicular failure for CFTR gene mutations is n ot warranted.