王若光:生殖(性)发育遗传病
性发育异常(DSD)是临床常见出生缺陷之一。DSD主要由于遗传因素所致,只有少数与理化因素(包括药物因素)等有关。
目前为止,DSD在国际范围内的分类仍然不能满足临床病例的需要,无法涵盖所有生殖(性)发育的疾病类型。虽然,2006欧洲儿科内分泌协会(ESPE)和Lawson Wilkins儿科内分泌协会(LWPES)联合分类法是目前最全和最规范的分类,但仍然不能涵盖全部DSD。
临床许多遗传综合征表型生殖(性)发育异常,相关遗传综合征涉及数百种疾病,DSD和其他临床表型一起可以形成证据链。特别是骨骼发育异常、心血管异常,泌尿系统和消化系统异常等常和DSD一起成为多种遗传综合征的显著表型之一。
染色体病中多种常染色体的缺失和重复,以及各类性染色体疾病均可表型为DSD。
下面将王若光教授最近学术讲座的课件:生殖(性)发育遗传病,发布如下,请各位同道指正交流。
本文信息量巨大,需要反复阅读和具备相关遗传学、发育生物学以及生殖医学相关知识才能利于理解。
![](http://pic.ikafan.com/imgp/L3Byb3h5L2h0dHBzL2ltYWdlMTA5LjM2MGRvYy5jbi9Eb3dubG9hZEltZy8yMDIxLzA4LzA1MTMvMjI3Njk1MDc5XzFfMjAyMTA4MDUwMTQ4MDQ4Mg==.jpg)
![](http://pic.ikafan.com/imgp/L3Byb3h5L2h0dHBzL2ltYWdlMTA5LjM2MGRvYy5jbi9Eb3dubG9hZEltZy8yMDIxLzA4LzA1MTMvMjI3Njk1MDc5XzJfMjAyMTA4MDUwMTQ4MDQ0NDE=.jpg)
![](http://pic.ikafan.com/imgp/L3Byb3h5L2h0dHBzL2ltYWdlMTA5LjM2MGRvYy5jbi9Eb3dubG9hZEltZy8yMDIxLzA4LzA1MTMvMjI3Njk1MDc5XzNfMjAyMTA4MDUwMTQ4MDUz.jpg)
![](http://pic.ikafan.com/imgp/L3Byb3h5L2h0dHBzL2ltYWdlMTA5LjM2MGRvYy5jbi9Eb3dubG9hZEltZy8yMDIxLzA4LzA1MTMvMjI3Njk1MDc5XzRfMjAyMTA4MDUwMTQ4MDUzNjM=.jpg)
![](http://pic.ikafan.com/imgp/L3Byb3h5L2h0dHBzL2ltYWdlMTA5LjM2MGRvYy5jbi9Eb3dubG9hZEltZy8yMDIxLzA4LzA1MTMvMjI3Njk1MDc5XzVfMjAyMTA4MDUwMTQ4MDU5NDE=.jpg)
![](http://pic.ikafan.com/imgp/L3Byb3h5L2h0dHAvaW1hZ2UxMDkuMzYwZG9jLmNuL0Rvd25sb2FkSW1nLzIwMjEvMDgvMDUxMy8yMjc2OTUwNzlfNl8yMDIxMDgwNTAxNDgwNjM2Mw==.jpg)
![](http://pic.ikafan.com/imgp/L3Byb3h5L2h0dHAvaW1hZ2UxMDkuMzYwZG9jLmNuL0Rvd25sb2FkSW1nLzIwMjEvMDgvMDUxMy8yMjc2OTUwNzlfN18yMDIxMDgwNTAxNDgwNjkyNQ==.jpg)
![](http://pic.ikafan.com/imgp/L3Byb3h5L2h0dHAvaW1hZ2UxMDkuMzYwZG9jLmNuL0Rvd25sb2FkSW1nLzIwMjEvMDgvMDUxMy8yMjc2OTUwNzlfOF8yMDIxMDgwNTAxNDgwNzcyMg==.jpg)
![](http://n4.ikafan.com/assetsj/blank.gif)
![](http://n4.ikafan.com/assetsj/blank.gif)
![](http://n4.ikafan.com/assetsj/blank.gif)
![](http://n4.ikafan.com/assetsj/blank.gif)
![](http://n4.ikafan.com/assetsj/blank.gif)
![](http://n4.ikafan.com/assetsj/blank.gif)
![](http://n4.ikafan.com/assetsj/blank.gif)
![](http://n4.ikafan.com/assetsj/blank.gif)
![](http://n4.ikafan.com/assetsj/blank.gif)
![](http://n4.ikafan.com/assetsj/blank.gif)
![](http://n4.ikafan.com/assetsj/blank.gif)
![](http://n4.ikafan.com/assetsj/blank.gif)
![](http://n4.ikafan.com/assetsj/blank.gif)
![](http://n4.ikafan.com/assetsj/blank.gif)
![](http://n4.ikafan.com/assetsj/blank.gif)
![](http://n4.ikafan.com/assetsj/blank.gif)
![](http://n4.ikafan.com/assetsj/blank.gif)
![](http://n4.ikafan.com/assetsj/blank.gif)
![](http://n4.ikafan.com/assetsj/blank.gif)
![](http://n4.ikafan.com/assetsj/blank.gif)
![](http://n4.ikafan.com/assetsj/blank.gif)
![](http://n4.ikafan.com/assetsj/blank.gif)
![](http://n4.ikafan.com/assetsj/blank.gif)
![](http://n4.ikafan.com/assetsj/blank.gif)
![](http://n4.ikafan.com/assetsj/blank.gif)
![](http://n4.ikafan.com/assetsj/blank.gif)
![](http://n4.ikafan.com/assetsj/blank.gif)
![](http://n4.ikafan.com/assetsj/blank.gif)
![](http://n4.ikafan.com/assetsj/blank.gif)
![](http://n4.ikafan.com/assetsj/blank.gif)
![](http://n4.ikafan.com/assetsj/blank.gif)
![](http://n4.ikafan.com/assetsj/blank.gif)
![](http://n4.ikafan.com/assetsj/blank.gif)
![](http://n4.ikafan.com/assetsj/blank.gif)
![](http://n4.ikafan.com/assetsj/blank.gif)
![](http://n4.ikafan.com/assetsj/blank.gif)
![](http://n4.ikafan.com/assetsj/blank.gif)
![](http://n4.ikafan.com/assetsj/blank.gif)
![](http://n4.ikafan.com/assetsj/blank.gif)
![](http://n4.ikafan.com/assetsj/blank.gif)
![](http://n4.ikafan.com/assetsj/blank.gif)
![](http://n4.ikafan.com/assetsj/blank.gif)
![](http://n4.ikafan.com/assetsj/blank.gif)
![](http://n4.ikafan.com/assetsj/blank.gif)
![](http://n4.ikafan.com/assetsj/blank.gif)
![](http://n4.ikafan.com/assetsj/blank.gif)
![](http://n4.ikafan.com/assetsj/blank.gif)
![](http://n4.ikafan.com/assetsj/blank.gif)
![](http://n4.ikafan.com/assetsj/blank.gif)
![](http://n4.ikafan.com/assetsj/blank.gif)
![](http://n4.ikafan.com/assetsj/blank.gif)
![](http://n4.ikafan.com/assetsj/blank.gif)
赞 (0)