Cystic fibrosis gene mutations and infertile men with primary testicular failure
Cystic fibrosis gene mutations and infertile men with primary testicular failure
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DOI：
10.1093/humrep/15.2.436
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发表时间：
2000-02-01
影响因子：
6.1
通讯作者：
Jarvi, KA
中科院分区：
文献类型：
--
作者：
Mak, V;Zielenski, J;Jarvi, KA
已经提出，囊性纤维化的基因，称为囊性纤维化跨膜传导调节因子（CFTR）基因，可能在精子发生过程中发挥重要作用。一组原发性睾丸功能衰竭的无精子症男性进行CFTR突变分析，包括内含子8多聚胸苷序列（IVS 8-T序列）的评估。CFTR突变或IVS 8-T道的5 T变体与原发性睾丸衰竭表型之间未发现相关性。这一发现表明CFTR在初级生精功能障碍的发病机制中不起重要作用。因此，在一些青春期后男性囊性纤维化的睾丸组织学异常的结果可能是营养缺乏或睾丸阻塞，而不是在精子发生的原发性缺陷的结果。此外，CFTR突变的少精子症患者精子数量减少可能是继发于部分生殖道阻塞，而不是精子发生异常。最后，没有必要对原发性睾丸功能衰竭的男性进行CFTR基因突变的常规筛查。
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.