Guzmán Martínez-Valls P L, Tomas Ros M, Glover López G, Ferrero Doria R, Morga Egea J P, Navas Pastor J, Rico Galiano J L, Sempere Gutiérrez A, Fontana Compiano L O
Servicio de Urología, Hospital General Universitario de Murcia, España.
Arch Esp Urol. 1998 Jun;51(5):451-5.
To analyze the association of congenital bilateral agenesis of the vas deferens and cystic fibrosis.
Three azoospermic patients with surgically confirmed congenital agenesis of the vas deferens in whom a molecular genetics study had been performed to discard the more common mutations of cystic fibrosis are described and the literature reviewed.
All patients showed azoospermia. The molecular genetics study showed one of the patients to be a heterozygotic carrier of G542X and no other mutations like the remaining patients.
15% of patients with azoospermia have chromosomal anomalies. Recently, it has been reported that 50%-65% of patients with congenital bilateral agenesis of the vas deferens have mutations for the CFTR gene, with more than 400 reported. Patients with bilateral agenesis and their partners should be screened for cystic fibrosis prior to any in vitro fertilization techniques.
分析先天性双侧输精管缺如与囊性纤维化之间的关联。
描述了3例经手术证实为先天性输精管缺如的无精子症患者，这些患者均已进行分子遗传学研究以排除更常见的囊性纤维化突变，并对相关文献进行了综述。
所有患者均表现为无精子症。分子遗传学研究显示，其中1例患者为G542X杂合子携带者，其余患者未发现其他突变。
15%的无精子症患者存在染色体异常。最近有报道称，50%-65%的先天性双侧输精管缺如患者存在CFTR基因突变，已报道的突变超过400种。在进行任何体外受精技术之前，应对双侧输精管缺如患者及其配偶进行囊性纤维化筛查。
