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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。
Sexual dysplasia (DSD) refers to the abnormalities of sex differentiation caused by genetic and environmental factors, resulting in chromosomal sex, gonadal sex and phenotype gender and gender differences in patients, male genitalia may have both sexes, Gender ambiguity often difficult to determine. The etiology of DSD complicated clinical manifestations, diagnosis and treatment difficulties. Based on molecular biology techniques, multidisciplinary cooperation in children with a comprehensive assessment and development of individualized treatment programs for the precise mode of diagnosis of DSD early diagnosis and prevention of future physiological damage and psychological damage have important value.