Testicular dysgenesis syndrome and the development and occurrence of male reproductive disorders.
Testicular dysgenesis syndrome and the development and occurrence of male reproductive disorders.
复制标题
DOI：
10.1016/j.taap.2005.01.058
复制
发表时间：
2005-09-01
影响因子：
3.8
通讯作者：
Toppari, J
中科院分区：
文献类型：
--
作者：
Virtanen, H E;Rajpert-De Meyts, E;Toppari, J
45，X 0/46 XY核型的患者常表现为间性表型和睾丸发育不全。这些患者也可能有隐睾（隐睾症），尿道下裂和他们的精子发生严重中断。他们患睾丸癌的风险很高。这些患者患有最严重的睾丸发育不全综合征（TDS）。我们假设睾丸癌、隐睾症、尿道下裂和精子发生不良都是睾丸发育障碍的症状，称为睾丸发育不全综合征。这一假设是基于临床和流行病学调查结果以及生物学和实验证据。TDS的迹象有几个共同的风险因素，如出生体重过轻（特别是小于胎龄），它们是彼此的风险因素。他们都有胎儿发育的背景。它们显示出很强的流行病学联系，因此睾丸癌发病率高的国家，如丹麦，往往也有隐睾症和尿道下裂的高患病率和精液质量差。反之亦然，在男性生殖健康状况良好的国家，在芬兰，所有这些方面都比丹麦好。虽然遗传异常可能导致这些疾病，但在大多数情况下，原因仍不清楚。男性生殖疾病发病率的不利趋势表明，环境和生活方式因素促成了这一问题。内分泌干扰物被认为是环境影响的主要候选者。胎仔暴露于高剂量邻苯二甲酸二丁酯可导致大鼠出现TDS样表型。目前正在进行研究，以评估与选定的化学品（持久性有机污染物、农药、邻苯二甲酸盐）和隐睾症是否存在任何风险-结果关系。
Patients with 45,X0/46XY karyotype often present with intersex phenotype and testicular dysgenesis. These patients may also have undescended testes (cryptorchidism), hypospadias and their spermatogenesis is severely disrupted. They have a high risk for testicular cancer. These patients have the most severe form of testicular dysgenesis syndrome (TDS). We have hypothesized that testicular cancer, cryptorchidism, hypospadias and poor spermatogenesis are all signs of a developmental disturbance that was named as testicular dysgenesis syndrome. The hypothesis is based on clinical and epidemiological findings and on biological and experimental evidence. Signs of TDS share several risk factors, such as small birth weight (particularly being small for gestational age), and they are risk factors for each other. All of them have background in fetal development. They show strong epidemiological links so that countries with high incidence of testicular cancer, such as Denmark, tend to also have high prevalence rates of cryptorchidism and hypospadias and poor semen quality. Vice versa, in countries with good male reproductive health, e.g., in Finland, all these aspects are better than in Denmark. Although genetic abnormalities can cause these disorders, in the majority of cases, the reasons remain unclear. Adverse trends in the incidence of male reproductive disorders suggest that environmental and life style factors contribute to the problem. Endocrine disrupters are considered as prime candidates for environmental influence. Fetal exposure to high doses of dibutyl phthalate was shown to cause a TDS-like phenotype in the rats. Studies are underway to assess whether there is any exposure-outcome relation with selected chemicals (persistent organic pollutants, pesticides, phthalates) and cryptorchidism.