遗传方法在性别不明生殖器和性别发育障碍中的应用：临床医生需要了解的知识。
Genetic approach to ambiguous genitalia and disorders of sex development: What clinicians need to know.
机构信息
Department of Obstetrics, Gynecology and Reproductive Sciences, University of Pittsburgh, School of Medicine, Pittsburgh, PA; Department of Pathology, University of Pittsburgh, School of Medicine, Pittsburgh, PA; Department of Human Genetics, University of Pittsburgh, School of Public Health, Pittsburgh, PA.
Division of Pediatric Endocrinology, Department of Pediatrics, Children's Hospital of Pittsburgh of UPMC, University of Pittsburgh, 4401 Penn Ave, Pittsburgh, PA 15224.
出版信息
Semin Perinatol. 2017 Jun;41(4):232-243. doi: 10.1053/j.semperi.2017.03.016. Epub 2017 May 22.
Genetic tools such as microarray and next-generation sequencing have initiated a new era for the diagnosis and management of patients with disorders of sex development (DSDs). These tools supplement the traditional approach to the evaluation and care of infants, children, and adolescents with DSDs. These tests can detect genetic variations known to be associated with DSDs, discover novel genetic variants, and elucidate novel mechanisms of gene regulation. Herein, we discuss these tests and their role in the management of patients with DSDs.
遗传工具，如微阵列和下一代测序，为性发育障碍（DSD）患者的诊断和管理开创了一个新时代。这些工具补充了传统的评估和护理患有 DSD 的婴儿、儿童和青少年的方法。这些测试可以检测已知与 DSD 相关的遗传变异，发现新的遗传变异，并阐明基因调控的新机制。本文讨论了这些测试及其在 DSD 患者管理中的作用。
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