Zhongguo shiyan zhenduanxue性发育异常是一种少见的先天性畸形，患者在性染色体、性腺、性激素水平及内外生殖器等方面表现异常。其分子遗传学病因复杂，临床表现多样，诊疗过程需要依靠多学科团队的综合判断。目前，随着基因检测、染色体核型分析等技术的发展，其诊断方式逐渐由传统手段向染色体与基因层面发展。并且，辅助生殖技术的发展也为相关患者实现生育愿望带来更多机会。同时，由于存在性腺位置异常、细胞异常分化等高危因素，该类患者性腺发生恶性肿瘤的概率较正常性腺组织明显升高。
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