Val Pierre, Swain Amanda
Institute of Cancer Research, London, UK.
Nat Clin Pract Urol. 2005 Dec;2(12):616-27. doi: 10.1038/ncpuro0354.
Sex differentiation in mammals occurs in three steps. The first is the establishment of chromosomal sex at fertilization, followed by the differentiation of the gonad into an ovary or testis, and finally the establishment of the phenotypic sex of the embryo and adult, which is regulated by the gonad. Disruption of any of these stages gives rise to sexual ambiguities that include 46,XY pure gonadal dysgenesis, 46,XX true hermaphroditism, and variable degrees of intersexuality. In this review, we focus on the development of the mammalian gonad from a bipotential primordium that differentiates into either an ovary or a testis. We describe the recent increase in our knowledge of the genetic defects that directly affect gonadal development, sex determination, and sex differentiation, with emphasis on the comparison of genetic studies in mice with studies of naturally occurring mutations in humans.
哺乳动物的性别分化分三个阶段进行。首先是在受精时确定染色体性别，接着性腺分化为卵巢或睾丸，最后由性腺调控胚胎及成体的表型性别确立。这些阶段中任何一个受到干扰都会导致性征模糊，包括46,XY单纯性腺发育不全、46,XX真两性畸形以及不同程度的雌雄间性。在本综述中，我们重点关注哺乳动物性腺从双潜能原基发育为卵巢或睾丸的过程。我们描述了近期在直接影响性腺发育、性别决定和性别分化的基因缺陷方面知识的增加，重点是比较小鼠的遗传学研究与人类自然发生突变的研究。
