性发育异常(DSD)是指由于遗传和环境因素引起性别分化过程的异常,导致患者染色体性别、性腺性别和表现型性别以及社会性别之间的不一致,外生殖器可兼有男、女两性特征,性别模糊常难以确定。DSD的病因复杂,临床表现多样,诊治困难。以分子生物学技术为基础,多学科合作对患儿进行全面评估和制定个体化治疗方案的精准医疗模式对DSD的早期诊断,预防其日后生理功能损害及心理伤害有重要价值。
Abstract
Disorders of sex development (DSD)is defined as congenital conditions where development of chromosomal,gonadal,or anatomic sex is atypical.The diagnosis and treatment of DSD are difficult because of the complicated etiologies and the various clinical manifestations.In the recent years,based on the rapid development of molecular diagnostics,the precision medicine model,which selects appropriate and optimal therapies by multiple disciplinary team,has very important value in early diagnosis and prevention of physiological function and psychological damage in children with DSD.
关键词
性发育异常 /
病因 /
诊断 /
治疗学 /
儿童
Key words
disorders of sex development /
etiology /
diagnosis /
therapeutics /
children
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