Translational genetics for diagnosis of human disorders of sex development.
Translational genetics for diagnosis of human disorders of sex development.
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DOI：
10.1146/annurev-genom-091212-153417
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发表时间：
2013
影响因子：
8.7
通讯作者：
Vilain E
中科院分区：
文献类型：
--
作者：
Baxter RM;Vilain E
性发育障碍 (DSD) 是个体染色体、性腺和表型性别之间存在差异的先天性疾病。此类疾病历来难以诊断，给患者及其家人带来巨大压力。对人类样本的遗传分析有助于阐明双潜能性腺发育成功能性睾丸或卵巢所涉及的分子和途径。然而，许多 DSD 患者仍然没有接受基因诊断。新的遗传和基因组技术正在扩展我们对 DSD 潜在机制的了解，并为临床诊断开辟新的途径。我们回顾了阐明人类性别决定基因的基因技术，讨论了最新基因组技术的发现，并提出了 DSD 临床诊断的新范例。
Disorders of sex development (DSDs) are congenital conditions with discrepancies between the chromosomal, gonadal, and phenotypic sex of the individual. Such disorders have historically been difficult to diagnose and cause great stress to patients and their families. Genetic analysis of human samples has been instrumental in elucidating the molecules and pathways involved in the development of the bipotential gonad into a functioning testis or ovary. However, many DSD patients still do not receive a genetic diagnosis. New genetic and genomic technologies are expanding our knowledge of the underlying mechanism of DSDs and opening new avenues for clinical diagnosis. We review the genetic technologies that have elucidated the genes that are well established in sex determination in humans, discuss findings from more recent genomic technologies, and propose a new paradigm for clinical diagnosis of DSDs.