Department of Epidemiology Research, Statens Serum Institut, Artillerivej 5, 2300 Copenhagen S, Denmark.
J Natl Cancer Inst. 2010 Feb 3;102(3):187-92. doi: 10.1093/jnci/djp457. Epub 2009 Dec 21.
Cryptorchidism, hypospadias, and testicular germ cell cancer (TGCC) may be symptoms of a testicular dysgenesis syndrome that manifests during fetal life. To address the inheritability of this syndrome, we examined whether family history of cryptorchidism or hypospadias is associated with an increased risk of TGCC.
A total of 2,159,883 men born since 1953, identified through Danish health registers, were followed from April 2, 1968, through May 31, 2008. First-, second-, and third-degree relatives were identified in the Danish Family Relations Database; cryptorchidism and hypospadias patients were identified in the Danish Hospital Discharge Register; and TGCC patients were identified in the Danish Cancer Register. Poisson regression was used to calculate the risk ratio for TGCC by family history of cryptorchidism or hypospadias.
A total of 5441 patients developed TGCC. A personal history of cryptorchidism or hypospadias was associated with an increased relative risk (RR) of developing TGCC (RR = 3.71, 95% confidence interval [CI] = 3.29 to 4.19; and RR = 2.13, 95% CI = 1.26 to 3.61, respectively). For example, in men in their thirties, the overall rate per 100 000 is 25.1 in the cohort, but 88.6 and 55.4 in men born with cryptorchidism or hypospadias, respectively. In contrast, relatives of a hypospadias patient did not have a statistically significantly increased risk of TGCC nor did the first- and second-degree relatives of cryptorchidism patients. However, we found a small increased risk of TGCC for third-degree relatives of patients with cryptorchidism.
Having hypospadias or cryptorchidism was associated with an increased risk of developing TGCC. However, our finding that family history of hypospadias or cryptorchidism generally was not associated with increased risk of developing TGCC does not support the hypothesis of shared inheritability of cryptorchidism, hypospadias, and TGCC.
隐睾症、尿道下裂和睾丸生殖细胞癌（TGCC）可能是睾丸发育不良综合征的症状，该综合征在胎儿期表现出来。为了解决该综合征的遗传性，我们研究了家族史中隐睾症或尿道下裂是否与 TGCC 风险增加有关。
共有 2159883 名 1953 年以后出生的男性，通过丹麦健康登记系统进行了识别，他们从 1968 年 4 月 2 日至 2008 年 5 月 31 日进行了随访。在丹麦家庭关系数据库中确定了一级、二级和三级亲属；在丹麦住院登记处确定了隐睾症和尿道下裂患者；在丹麦癌症登记处确定了 TGCC 患者。使用泊松回归计算家族史中隐睾症或尿道下裂与 TGCC 的风险比。
共有 5441 名患者发生 TGCC。个人隐睾症或尿道下裂史与 TGCC 发病的相对风险增加相关（RR=3.71，95%置信区间[CI]：3.29 至 4.19；RR=2.13，95%CI：1.26 至 3.61）。例如，在 30 多岁的男性中，队列中的总发病率为每 100000 人 25.1，但患有隐睾症或尿道下裂的男性分别为 88.6 和 55.4。相比之下，尿道下裂患者的亲属 TGCC 发病风险没有统计学显著增加，隐睾症患者的一级和二级亲属也没有。然而，我们发现隐睾症患者的三级亲属 TGCC 发病风险略有增加。
患有尿道下裂或隐睾症与 TGCC 发病风险增加相关。然而，我们发现家族史中尿道下裂或隐睾症一般与 TGCC 发病风险增加无关，这并不支持隐睾症、尿道下裂和 TGCC 具有共同遗传性的假设。
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