先天性双侧输精管缺如的诊断与预后

Clinical diagnosis and prediction for fertility in CBAVD

摘要:

目的探讨先天性双侧输精管缺如(CBAVD)的临床诊断和采取辅助生殖技术生育的遗传风险.方法对794例无精子症患者进行正规的体格检查、精液常规检测、生殖激素水平检测、染色体核型分析、睾丸组织活检和输精管造影;对确诊的25例CBAVD患者的CF基因中7个外显子应用PCR-单链构象多态性(PCR-SSCP)进行突变筛查.结果确诊CBAVD共92例,25例CBAVD患者在7个外显子区域未发现有CF基因的突变.1例行单精子卵泡浆内注射(ICSI)获得亲生子女(双胞胎).结论CBAVD是先天性梗阻性无精症最常见的病因,采用临床的一般检查方法可以确诊;研究表明本组CBAVD患者CFTR基因中7个外显子区域未发现有CF基因突变,ICSI技术给渴望生育的CBAVD患者带来福音,但可能将突变的CFTR基因传给子代,故对因CBAVD行ICSI的夫妻双方,行胚胎植前的遗传学诊断(PGD).

关键词:先天性双侧输精管缺如;诊断;CFTR基因

Abstract:

Objective: To study clinical diagnosis and prediction for fertility in CBAVD. Methods: 794 infertility cases were presented because of azoospermia through physical examination, semine analysis, serum hormone (FSH, LH, T, PRL), testicular biopsies karyotype. Exons 2, 3, 7A, 10, 13A, 14b, 19B of CFTR gene were analyzed in 25 CBAVD patients by using PCR-single strand conformation polymorphism (SSCP). Results: 92 azoospermin were diagnosed CBAVD, none of patients exhibited an abnormal band on SSCP for seven exions of the CFTR gene. One patient had his own twins, with the help of ICSI. Conclusions: The CBAVD is one of common causes in congenital azoospermia. The clinical diagnosis depends on history of infertility, physical examination, semine analysis, serum hormone (FSH, LH, T, PRL), testicular biopsies, karyotype. CBAVD is autosomal recessive disease. Assisted reproductive technologies (ICSI) may raise the concern of iatrogenically transmitting pathogemnic CFTR mutations to the progeny. Testing of CFTR mutation and PGD are very important.

Key words:ICSI