摘要性别发育异常（Disorders of Sex Development,DSD）是指染色体表型与性腺、外生殖器表征不一致,在人群中所占比例约为1：5000[1]。目前国内外对性别发育异常的研究主要集中在发病的遗传机制方面。已知的病因包括Y p-X p末端易位、胚层嵌合、SOX9基因的重复或缺失及参与性别决定的其它基因变异等[2]。
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