Institute for Molecular Bioscience, The University of Queensland, Brisbane, Queensland, Australia.
Semin Reprod Med. 2012 Oct;30(5):351-63. doi: 10.1055/s-0032-1324718. Epub 2012 Oct 8.
The process of sex determination in mammals normally unfolds in three distinct stages: (1) establishment of chromosomal sex at fertilization (XX or XY); (2) commitment to the appropriate pathway of gonadal differentiation with respect to chromosomal sex, through the action (or absence) of the Y chromosome gene SRY; and (3) correct development of secondary sexual characteristics, including internal and external genitalia, in accordance with gonadal sex. At any of these three steps, the process of sex determination can go awry, leading to disorders of sexual development. In this article, we review the typical mechanism and process of mammalian sex determination, with an emphasis on the well-characterized mouse and human models. We also consider aberrant mammalian sex determination, focusing on examples of sex reversal stemming from gene defects.
(1) 在受精时建立染色体性别（XX 或 XY）；(2) 通过 Y 染色体基因 SRY 的作用（或缺失），使性腺分化朝着与染色体性别相一致的适当途径进行；(3) 根据性腺性别，正确地发育出第二性征，包括内外生殖器。在这三个步骤中的任何一个步骤，性别决定过程都可能出错，导致性发育障碍。本文综述了哺乳动物性别决定的典型机制和过程，重点介绍了特征明确的小鼠和人类模型。我们还考虑了异常的哺乳动物性别决定，重点关注了源自基因缺陷的性反转的例子。
