Phoenixville Urology Associates, 824 Main St Ste 203, Phoenixville, PA 19460, USA.
J Pediatr Urol. 2013 Oct;9(5):683-90. doi: 10.1016/j.jpurol.2012.08.002. Epub 2012 Sep 25.
Familial occurrence of testicular torsion has been infrequently reported. To date, no systematic analysis has been published. We systematically analyzed the literature to elucidate the epidemiology, presentation, management, and whether the observed prevalence of testicular torsion in families is consistent with absence of inheritance and is randomly distributed.
We searched electronic databases using keywords "testicular torsion", "spermatic cord torsion", "familial torsion" and "sibling torsion". Reports with genetically related first degree relatives were included in the analysis. Levene's nonparametric test was used to compare the variance of the age of presentation within families to that between different families to differentiate between familial predisposition and chance events.
Up to 10% of patients with testicular torsion have an affected first degree relative. We were able to reject the null hypothesis that the observed prevalence of testicular torsion is due to chance (p < 0.001). Family history is missed in at least 27% of affected families. There is a high incidence of bilateral testicular torsion in families (37%) and probands (17%) and a high concordance rate for bilaterality among monozygous twins.
Current evidence from clinical and animal studies suggests the presence of a genetically determined component in familiar testicular torsion. Increased awareness may lead to earlier clinical presentation and higher testicular salvage rates.
家族性睾丸扭转的发生情况鲜有报道。迄今为止，尚未发表系统分析结果。我们系统地分析了文献，以阐明流行病学、表现、处理方法，以及家族中观察到的睾丸扭转发生率是否与遗传无关且呈随机分布。
我们使用关键词“睾丸扭转”、“精索扭转”、“家族性扭转”和“同胞扭转”在电子数据库中进行搜索。将具有遗传相关一级亲属的报告纳入分析。采用莱文方差非参数检验来比较家族内和家族间表现年龄的方差，以区分家族易感性和偶然事件。
多达 10%的睾丸扭转患者存在一级亲属受累。我们可以拒绝睾丸扭转发生率是偶然事件的零假设（p<0.001）。至少有 27%的受累家庭存在家族史漏诊。家族中（37%）和先证者中（17%）存在较高的双侧睾丸扭转发生率，同卵双胞胎之间的双侧一致性率也较高。
目前的临床和动物研究证据表明，家族性睾丸扭转存在遗传决定因素。提高认识可能会导致更早的临床表现和更高的睾丸保留率。
