Akinsal E C, Baydilli N, Dogan M E, Ekmekcioglu O
Urology Department, Medical Faculty, Erciyes University, Kayseri, Turkey.
Department of Medical Genetics, Medical Faculty, Erciyes University, Kayseri, Turkey.
Andrologia. 2018 Feb 27. doi: 10.1111/and.12994.
Congenital absence of the vas deferens (CAVD) is a relatively rare anomaly that may contribute to male infertility. The aim of this study was to evaluate the clinical features of patients with CAVD and to emphasise some pathological conditions that may be detected during the infertility work-up or follow-up of these patients. The charts of 150 males with the diagnosis of CAVD were evaluated retrospectively. The demographic characteristics, reasons for attendance, the way of diagnosis, interventions for infertility before and after attendance, physical examination findings, reproductive hormone levels, semen analysis results, genetical analysis results and resultant live birth events were all included in the study. There were 101 bilateral and 43 unilateral CAVD cases. Thirty-two males (30.2%) had some renal abnormalities. Two cases, one with bilateral and one with unilateral agenesis, died because of colon cancer at a young age. One case with CUAVD had acute lymphoblastic leukaemia. Congenital absence of the vas deferens should not be seen only as a fertility problem because of the many genotypic or phenotypic disorders that may be present with it. These disorders can cause serious general health problems either presently or in future and can also be transmitted to future generations.
先天性输精管缺如(CAVD)是一种相对罕见的异常情况,可能导致男性不育。本研究的目的是评估CAVD患者的临床特征,并强调在这些患者的不育症检查或随访过程中可能检测到的一些病理状况。对150例诊断为CAVD的男性患者的病历进行了回顾性评估。研究纳入了人口统计学特征、就诊原因、诊断方式、就诊前后的不育症干预措施、体格检查结果、生殖激素水平、精液分析结果、基因分析结果以及最终的活产事件。其中有101例双侧CAVD病例和43例单侧CAVD病例。32名男性(30.2%)存在一些肾脏异常。2例患者,1例双侧输精管缺如,1例单侧输精管缺如,均在年轻时因结肠癌死亡。1例先天性单侧输精管缺如患者患有急性淋巴细胞白血病。由于先天性输精管缺如可能伴有多种基因型或表型疾病,因此不应仅将其视为生育问题。这些疾病目前或将来都可能导致严重的总体健康问题,并且还可能遗传给后代。