一例17β-羟类固醇脱氢酶3型缺陷症病例家系的基因研究
Chinese Journal of Endocrinology and Metabolism(2016)
Abstract
分析1例17β-羟类固醇脱氢酶3型缺陷症病例家系的HSD17B3基因序列变化。先证者社会性别女性,15岁,因“原发性闭经”就诊,双侧腹股沟区可扪及睾丸,激素检查高雄烯二酮、低睾酮,妇科超声未探及子宫卵巢,染色体核型46,XY。其妹8岁,因“家族史”就诊,查染色体核型46,XY。 HSD17B3基因测序显示姐妹二人为c.852G>A(p. W284X)纯合突变,父母为相应的杂合突变。
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Key words
17β-hydroxysteroid dehydrogenase 3 deficiency,46,XY disorders of sex development,HSD17B3 gene
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