Meschede D, Keck C, De Geyter C, Eigel A, Horst J, Nieschlag E
Institut für Reproduktionsmedizin, Universität Münster.
Dtsch Med Wochenschr. 1993 May 7;118(18):661-4. doi: 10.1055/s-2008-1059376.
A 28-year-old man and his 27-year-old wife were investigated for infertility of 3 1/2 years' duration. There was azoospermia caused by bilateral aplasia of the vas deferens, and therefore it was planned to aspirate spermatozoa from the epididymis for the purpose of in-vitro fertilisation. As part of the diagnostic workup the man was investigated for those mutations of the cystic fibrosis transmembrane regulator (CFTR) gene which occur with undue frequency in association with aplasia of the vas deferens. Deoxyribonucleic acid (DNA) analysis revealed a typical three base deletion (delta F 508). In the wife, CFTR gene mutations were excluded with 80% probability. The likelihood of cystic fibrosis in this couple's children was accordingly estimated to be about 0.2%--an acceptable risk. Assisted fertilization in patients with bilateral aplasia of the vas deferens should not be undertaken until they have been thoroughly investigated and informed of the risks.
一名28岁男性及其27岁妻子因3年半的不孕问题接受调查。双侧输精管发育不全导致无精子症，因此计划从附睾抽吸精子用于体外受精。作为诊断检查的一部分，对该男性进行了囊性纤维化跨膜传导调节因子（CFTR）基因突变的检测，这些突变在输精管发育不全患者中出现的频率过高。脱氧核糖核酸（DNA）分析显示出典型的三碱基缺失（ΔF508）。在妻子身上，有80%的概率排除了CFTR基因突变。因此，这对夫妇孩子患囊性纤维化的可能性估计约为0.2%——这是一个可接受的风险。双侧输精管发育不全的患者在接受全面检查并被告知风险之前，不应进行辅助受精。
