性发育障碍患者。
Patients with disorders of sex development.
作者信息
Markosyan Renata
机构信息
Department of Endocrinology, Yerevan State Medical Universisty, Yerevan, Armenia.
"Muratsan" University Hospital, Yerevan, Armenia.
出版信息
Ann Pediatr Endocrinol Metab. 2021 Jun;26(2):74-79. doi: 10.6065/apem.2040240.120. Epub 2021 Jun 30.
Abstract
Disorders of sex development (DSDs) are a genetically and clinically heterogeneous group of congenital conditions of the urogenital tract and reproductive system. Time and spatially controlled transcription factors, signal molecules, and an array of different hormones are involved in the development of sex characteristics, and variations in their pathways and actions are associated with DSD. These conditions may be caused by numerical or structural variations in sex chromosomes as well as autosomes, variations in genes involved in gonadal and/or genital development, and changes in gonadal and/or adrenal steroidogenesis. Endogenous or exogenous (maternal) and possibly endocrine disruptors may also interfere with genital development.
摘要
性发育障碍（DSDs）是一组泌尿生殖道和生殖系统的先天性疾病，在遗传和临床上具有异质性。时间和空间上受调控的转录因子、信号分子以及一系列不同的激素参与性征的发育，它们的信号通路和作用的变化与性发育障碍相关。这些病症可能由性染色体以及常染色体的数目或结构变异、性腺和/或生殖器发育相关基因的变异，以及性腺和/或肾上腺类固醇生成的变化引起。内源性或外源性（母体）因素以及可能的内分泌干扰物也可能干扰生殖器的发育。
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