Hypospadias and endocrine disruption: is there a connection?
Hypospadias and endocrine disruption: is there a connection?
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DOI：
10.1289/ehp.011091175
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发表时间：
2001-11
影响因子：
10.4
通讯作者：
中科院分区：
文献类型：
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尿道下裂是美国最常见的先天性异常之一，大约每 250 名新生儿中就有 1 人患有尿道下裂，或者大约每 125 名活产男性新生儿中就有 1 人患有尿道下裂。这是尿道、包皮和阴茎腹侧表面发育停滞的结果，其中尿道开口可能位于沿阴茎干的任何地方、阴囊内或会阴内。唯一的治疗方法是手术。因此，预防势在必行。为了实现这一目标，有必要确定尿道下裂的病因，其中大多数被归类为特发性。在本文中，我们简要描述了男性外生殖器的正常发育，并回顾了尿道下裂的患病率、病因、危险因素和流行病学。大多数尿道下裂被认为具有多因素病因，尽管一小部分确实是由单基因突变引起的。最近的研究结果表明，一些尿道下裂可能是基因表达破坏的结果。关于一些当代使用的化学物质的抗雄激素作用机制的发现提供了有关泌尿生殖系统的组织和发育的新知识，并可能为尿道下裂的病因学和预防方向提供更多见解。
Hypospadias is one of the most common congenital anomalies in the United States, occurring in approximately 1 in 250 newborns or roughly 1 in 125 live male births. It is the result of arrested development of the urethra, foreskin, and ventral surface of the penis where the urethral opening may be anywhere along the shaft, within the scrotum, or in the perineum. The only treatment is surgery. Thus, prevention is imperative. To accomplish this, it is necessary to determine the etiology of hypospadias, the majority of which have been classified as idiopathic. In this paper we briefly describe the normal development of the male external genitalia and review the prevalence, etiology, risk factors, and epidemiology of hypospadias. The majority of hypospadias are believed to have a multifactorial etiology, although a small percentage do result from single gene mutations. Recent findings suggest that some hypospadias could be the result of disrupted gene expression. Discoveries about the antiandrogenic mechanisms of action of some contemporary-use chemicals have provided new knowledge about the organization and development of the urogenital system and may provide additional insight into the etiology of hypospadias and direction for prevention.