| 性发育疾病新的分类和基因诊断 |
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| 引用本文： | 王卫萍,崔英霞. 性发育疾病新的分类和基因诊断[J]. 中国优生与遗传杂志, 2010, 0(2): 5-7,14 |
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| 作者姓名： | 王卫萍 崔英霞 |
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| 作者单位： | 南京军区南京总医院解放军检验医学研究所临床中心实验科; |
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| 摘 要： | 性发育疾病(Disorders of sex development,DSD)是性决定和性分化异常的一组异质性遗传病,是由于染色体畸变或单基因突变导致的性发育遗传和内分泌途径的改变。曾经用雌雄间体、假两性畸形、真两性畸形和性反转这些术语用于描述性发育疾病,但有轻蔑含义。2006年欧洲儿科内分泌协会(European Society for Pardiatric Endocrinology,ESPE)和Lawson Wilkins儿科内分泌协会(Lawson Wilkins Pardiatric Endocrine Society,LWPES)联合召开了由内分泌学家、外科学家、遗传学家、心理学家和患者支持小组成员参加的会议,提出了新的术语、分类标准和已知的突变基因。在此,与大家共同探讨。
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| 关 键 词： | 性发育疾病 性发育疾病的分类 生殖器模糊 |
Advanced in disorders of sex development |
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| WANG Wei-ping,CUI Ying-xia.. Advanced in disorders of sex development[J]. Chinese Journal of Birth Health & Heredity, 2010, 0(2): 5-7,14 |
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| Authors: | WANG Wei-ping CUI Ying-xia. |
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| Affiliation: | WANG Wei-ping,CUI Ying-xia. (Department of Clinical Experiment Medicine,Institute of Clinical Laboratory Medicine,Nanjing General Hospital of Nanjing Military Commond,PLA,Nanjing 210002,China ) |
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| Abstract: | Disorders of sex development (DSD) encompass a heterogeneous group of genetic disorders of sex determination and differentiation which inhibit or change primarily genetic or endocrine pathways of normal sex development. DSD include chromosomal as well as monogenic disorders. The previous nomenclatureintersex,pseudohermaphrodite,true hermaphrodite and sex reversal is perceived to be pejorative by patients and the families. In most patients affected,no definitive cause for the disorder can be found. Therefore... |
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| Keywords: | Disorders of sex development Classification of disorders of sex development Ambiguous genitalia |
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