Croft Brittany, Ayers Katie, Sinclair Andrew, Ohnesorg Thomas
Murdoch Children's Research Institute, Melbourne, Victoria, Australia and The Hudson Institute of Medical Research, Monash University, Melbourne, Victoria, Australia.
Murdoch Children's Research Institute, Melbourne, Victoria, Australia and Department of Paediatrics, University of Melbourne, Victoria, Australia.
Birth Defects Res C Embryo Today. 2016 Dec;108(4):337-350. doi: 10.1002/bdrc.21148.
Disorders of Sex Development (DSDs) are a major paediatric concern and are estimated to occur in around 1.7% of all live births (Fausto-Sterling, Sexing the Body: Gender Politics and the Construction of Sexuality, Basic Books, New York, 2000). They are often caused by the breakdown in the complex genetic mechanisms that underlie gonadal development and differentiation. Having a genetic diagnosis can be important for patients with a DSD: it can increase acceptance of a disorder often surrounded by stigma, alter clinical management and it can assist in reproductive planning. While Massively Parallel Sequencing (MPS) is advancing the genetic diagnosis of rare Mendelian disorders, it is not yet clear which MPS assay is best suited for the clinical diagnosis of DSD patients and to what extent other established methods are still relevant. To complicate matters, DSDs represent a wide spectrum of disorders caused by an array of different genetic changes, many of which are yet unknown. Here we discuss the different genetic lesions that are known to contribute to different DSDs, and review the utility of a range of MPS approaches for diagnosing DSD patients. Birth Defects Research (Part C) 108:337-350, 2016. © 2016 Wiley Periodicals, Inc.
性发育障碍（DSDs）是儿科关注的一个主要问题，据估计在所有活产婴儿中约有1.7%会出现（福斯托 - 斯特林，《身体的性别化：性别政治与性取向的建构》，基础图书公司，纽约，2000年）。它们通常是由性腺发育和分化所依赖的复杂遗传机制故障引起的。对于患有性发育障碍的患者来说，进行基因诊断可能很重要：它可以提高对一种常伴有污名的疾病的接受度，改变临床管理方式，还能辅助生殖规划。虽然大规模平行测序（MPS）正在推动罕见孟德尔疾病的基因诊断，但目前尚不清楚哪种MPS检测方法最适合性发育障碍患者的临床诊断，以及其他已有的方法在多大程度上仍然适用。更复杂的是，性发育障碍涵盖了由一系列不同基因变化引起的广泛疾病，其中许多基因变化尚不清楚。在此，我们讨论已知会导致不同性发育障碍的不同基因损伤，并综述一系列MPS方法在诊断性发育障碍患者方面的效用。《出生缺陷研究（C部分）》108:3,37 - 350, 2016年。© 2016威利期刊公司。
