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性发育障碍(disorder of sex development,DSD)是染色体性别、性腺性别或表型性别发育异常的统称,用以代替原有的对患者具有歧视性的真两性畸形、假两性畸形、间性畸形、性反转等术语[1]。人类性发育和性分化是一个复杂而连贯有序的过程,性别决定始于受精卵中性染色体的组成,经历从受精卵形成到青春期第二性征的成熟和完善的整个过程。
Disorder of sex development (DSD) is a general term for genital, gonadal or phenotypic dysplasia, which is used to replace the original true amphipathic, pseudohermaphroditism, Sex reversal and other terms [1]. Human sexual development and sexual differentiation is a complex and coherent process. Sex determination begins with the composition of sex chromosomes in fertilized eggs and undergoes the process of maturation and perfection from the formation of fertilized eggs to the adolescent secondary sexual characteristics.