Murdoch Children's Research Institute, Royal Children's Hospital and Department of Paediatrics, The University of Melbourne, Melbourne, VIC, Australia.
Chromosome Res. 2012 Jan;20(1):215-38. doi: 10.1007/s10577-012-9274-3.
Disorders of sex development (DSD) are congenital conditions in which the development of chromosomal, gonadal, or anatomical sex is atypical. Many of the genes required for gonad development have been identified by analysis of DSD patients. However, the use of knockout and transgenic mouse strains have contributed enormously to the study of gonad gene function and interactions within the development network. Although the genetic basis of mammalian sex determination and differentiation has advanced considerably in recent years, a majority of 46,XY gonadal dysgenesis patients still cannot be provided with an accurate diagnosis. Some of these unexplained DSD cases may be due to mutations in novel DSD genes or genomic rearrangements affecting regulatory regions that lead to atypical gene expression. Here, we review our current knowledge of mammalian sex determination drawing on insights from human DSD patients and mouse models.
性发育障碍（DSD）是一种先天性疾病，其染色体、性腺或解剖性别发育异常。通过对 DSD 患者的分析，已经确定了许多性腺发育所需的基因。然而，敲除和转基因小鼠品系的应用极大地促进了对性腺基因功能和发育网络内相互作用的研究。尽管近年来哺乳动物性别决定和分化的遗传基础有了很大的进展，但大多数 46,XY 性腺发育不良患者仍然无法得到准确的诊断。其中一些无法解释的 DSD 病例可能是由于新的 DSD 基因的突变或影响导致异常基因表达的调控区的基因组重排所致。在这里，我们借鉴人类 DSD 患者和小鼠模型的研究结果，综述了我们目前对哺乳动物性别决定的认识。
