46,XY女性性反转综合征一家系二例
CHINESE JOURNAL OF MEDICAL GENETICS(2012)
Abstract
例1 21岁,社会性别女,未婚.因原发性闭经就诊.查体:女性表型,身高167 cm,体重59 kg,腰围83 cm,臀围100cm.无喉结.乳房已发育.无腋毛,双侧腹股沟未触及明显异常.外阴无阴毛,呈幼稚型.内阴发育与年龄不符,阴道前庭、阴道口存在,阴道短浅约4 cm.超声提示盆腔右侧可见1.9cm×1.6 cm低回声,盆腔内可见1.5 cn×1.0 cm低回声,盆腔左侧可见2.2 cm×2.0 cm无回声区.生殖激素检查:泌乳素0.38 nmol/L(正常参考值:0.08~0.92 nmol/L),卵泡刺激素15.45 U/L(正常参考值:3.5~12.5 U/L),黄体生成素30.62U/L(正常参考值:2.4~12.6 U/L),孕酮2.67 nmol/L(正常参考值:0.67~4.77 nmol/L),睾酮22.24 nmol/L(正常参考值0.21~2.85 nmol/L),雌二醇157.41 pmol/L(正常参考值:45.88~609.22 pmol/L).外周血淋巴细胞染色体制备G显带分析,核型为46,XY,无嵌合型.AZF基因所检测位点(sY84、sY86、sY127、sY134、sY143、sY152、sY157、sY254、sY255)均存在.
MoreKey words
Immunohistochemical Assessment
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