Kistik fibrozis transmembran regülatör (CFTR) genindeki M470V polimorfizmi ve erkek infertilitesi

Abstract

GİRİŞErkek infertilitesi; korunmasız cinsel ilişkiye rağmen bir yı-lın sonunda konsepsiyon meydana gelmemesi veya çocuk sahibi olunamaması olarak tanımlanmaktadır.[1] Evli çiftlerin yaklaşık %10-15'i bebek sahibi olabilmek için tıbbi yardım ABSTRACT OBJECTIVE: Cystic fibrosis (CF) is one of the conditions that cause male infertility. CF is caused infertility in men by usually resulting congenital bilateral vas deferens agenesis (CBVDA). However, studies on how mutations and polymorphisms in CF gene affect spermatogenesis are limited. In this study, we aimed to investigate the association of severe oligozoospermia or nonobstructive azoospermia (NOA) with M470V polymorphism in the CF gene in non-CBVDA males. MATERIAL and METHODS:Thirty-three patients with severe oligozoospermia or NAO who were admitted to our andrology clinic because of infertility were enrolled in the study. Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene analysis was performed to evaluate the presence of M470V polymorphism. RESULTS:The mean age was 34.3 years. 13 of 33 patients (39.4%) had NOA, and 20 (60.4%) had severe oligozoospermia. M470V polymorphism was present in 19 (58%) patients, 8 of them were in the NOA group (62%) and 11 (55%) were in the oligozoospermia group. The frequency of M470V polymorphism in our patient group was found higher than expected in the population when compared with the rates reported in previous studies (28-47%) with healthy population. CONCLUSION:The results of this study suggest that increased M470V polymorphism in individuals with severe oligozoospermia or NOA may also have effects on spermatogenesis other than CBVDA. However, there is a need for more extensive studies on this topic.