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[先天性输精管缺如与囊性纤维化]

[Congenital agenesis of the vas deferens and cystic fibrosis].

作者信息

Kugler A, Laccone F, Weidner W, Kallerhoff M

机构信息

Urologische Klinik, Universität Göttingen.

出版信息

Urologe A. 1995 Jul;34(4):348-50.

PMID:7545847
Abstract

Aspermia caused by absence of the vas deferens is well known in cystic fibrosis. It has been suggested that otherwise healthy males with congenital bilateral absence of the vas deferens (CBAVD), which was previously considered a distinct genetic entity, have an increased frequency of CF gene mutations. CBAVD is now considered to be a mild form of cystic fibrosis. We report the case of an azoospermic man who had undergone exploratory scrototomy because of aplasia of the epididymis and vas deferens. Genetic screening for cystic fibrosis revealed a compound heterozygote for CFTR mutations delta F 508 and R 117 H.

摘要

输精管缺如导致的无精子症在囊性纤维化中是众所周知的。有人提出,以前被认为是一种独特遗传实体的先天性双侧输精管缺如(CBAVD)的其他方面健康的男性,CF基因突变频率增加。CBAVD现在被认为是囊性纤维化的一种轻度形式。我们报告了一例无精子症男性病例,该男性因附睾和输精管发育不全接受了阴囊探查术。囊性纤维化的基因筛查显示为CFTR基因突变ΔF508和R117H的复合杂合子。

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