性反转综合征(sex reverse syndrome)是一类较为常见的性别发育异常,其临床特征为性腺性别与染色体性别不相符合。由于Y染色体在人类性别决定中的中心作用,性反转综合征是研究人类性别决定机理、Y染色体分子结构及寻找睾丸决定因子(TDF)的理想模型。随着医学遗传学和分子遗传学技术的进步,目前对该病的发生机理已积累了不少知识。本文拟就这一领域的研究现状作一简要介绍。一、45,X男性综合征 Sex reversal syndrome (sex reverse syndrome) is a common category of gender dysplasia, the clinical features of sex and chromosome sex do not match. Because of the central role of the Y chromosome in determining human sex, sexual inversion syndrome is an ideal model for studying human sex determining mechanisms, the molecular structure of the Y chromosome, and finding testicular determinants (TDFs). With advances in medical genetics and molecular genetics, a great deal of knowledge has now accumulated on the pathogenesis of the disease. This article intends to make a brief introduction of the research status in this field. One, 45, X male syndrome