Congenital bilateral absence of the vas deferens: clinical characteristics, biological parameters, cystic fibrosis transmembrane conductance regulator gene mutations, and implications for genetic counseling
Congenital bilateral absence of the vas deferens: clinical characteristics, biological parameters, cystic fibrosis transmembrane conductance regulator gene mutations, and implications for genetic counseling
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DOI：
10.1016/s0015-0282(00)01625-3
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发表时间：
2000-12-01
影响因子：
6.7
通讯作者：
Mieusset, R
中科院分区：
文献类型：
--
作者：
Daudin, M;Bieth, E;Mieusset, R
目的：探讨先天性双侧输精管缺失（CBAVD）患者的表型特征与基因型特征之间的关系。设计：回顾性研究。地点：一所大学附属医院泌尿男科。患者：41例男性CBAVD。干预措施：CBAVD是在手术和/或超声检查输精管失智（VD）时诊断的（n = 39），或基于不可触及的阴囊VD （n = 2）。主要结局指标：病史、临床和精液特征、囊性纤维化跨膜传导调节因子（CFTR）基因突变，包括IVS-8 polyT分析。结果：13%接受手术探查的患者可触及阴囊输精管，表现为纤维索或不可渗透导管。28%的患者双侧没有精囊。24.5%的患者未检出CFTR基因突变或5T等位基因。2例合并肾发育不全的cavd患者携带CFTR基因突变（Delta F508/5T-9T和R117G/7T-9T）。精液体积小于或等于1.0 mL且精液pH值为
Objective: To evaluate relationships between the phenotypic and genotypic characteristics of patients with congenital bilateral absence of the vas deferens (CBAVD).Design: Retrospective study.Setting: A university hospital urology-andrology department.Patient(s): Forty-one men with CBAVD.Intervention(s): CBAVD was diagnosed during surgical and/or ultrasound exploration of the vasa deferentia (VD) (n = 39), or on the basis of impalpable scrotal VD (n = 2).Main Outcome Measure(s): History, clinical and seminal characteristics, and cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations including IVS-8 polyT analysis.Result(s): A palpable scrotal vas deferens was present as a fibrous cord or nonpermeable duct in 13% of patients undergoing surgical exploration. Seminal vesicles were bilaterally absent in 28% of patients. No CFTR gene mutation or 5T allele was detected in 24.5% of the patients. Two CBAVD patients with renal agenesis carried a CFTR gene mutation (Delta F508/5T-9T and R117G/7T-9T). CBAVD patients who have both a semen volume of less than or equal to1.0 mL and a semen pH of