Toppari Jorma, Virtanen Helena E, Main Katharina M, Skakkebaek Niels E
Departments of Physiology and Pediatrics, University of Turku, Kiinamyllynkatu 10, Turku, Finland.
Birth Defects Res A Clin Mol Teratol. 2010 Oct;88(10):910-9. doi: 10.1002/bdra.20707.
Cryptorchidism and hypospadias are common genital birth defects that affect 2-9% and 0.2-1% of male newborns, respectively. The incidence of both defects shows large geographic variation, and in several countries increasing trends have been reported. The conditions share many risk factors, and they are also interlinked to the risk of testis cancer and poor semen quality. Testicular Dysgenesis Syndrome (TDS) may underlie many cases of all these male reproductive health problems. Genetic defects in androgen production or action can cause both cryptorchidism and hypospadias, but these are not common. A monogenic reason for cryptorchidism or hypospadias has been identified only in a small proportion of all cases. Environmental effects appear to play a major role in TDS. Exposure to several persistent chemicals has been found to be associated with the risk of cryptorchidism, and exposure to anti-androgenic phthalates has been shown to be associated with hormonal changes predisposing to male reproductive problems. Despite progress in identification of endocrine-disrupting substances, we are still far from knowing all the risk factors for these birth defects, and advice for prevention must be based on precautionary principles.
隐睾症和尿道下裂是常见的生殖器出生缺陷，分别影响2%至9%和0.2%至1%的男性新生儿。这两种缺陷的发病率在地域上差异很大，并且在一些国家有上升趋势的报道。这两种病症有许多共同的风险因素，并且它们还与睾丸癌风险和精液质量差有关联。睾丸发育不全综合征（TDS）可能是所有这些男性生殖健康问题的许多病例的潜在病因。雄激素产生或作用方面的基因缺陷可导致隐睾症和尿道下裂，但这些情况并不常见。在所有病例中，仅一小部分确定了隐睾症或尿道下裂的单基因原因。环境因素似乎在TDS中起主要作用。已发现接触几种持久性化学物质与隐睾症风险有关，并且已表明接触抗雄激素邻苯二甲酸盐与易导致男性生殖问题的激素变化有关。尽管在识别内分泌干扰物质方面取得了进展，但我们距离了解这些出生缺陷的所有风险因素仍很遥远，预防建议必须基于预防原则。
