34例性腺分化异常患者的超声诊断及染色体实验室分析  

Analysis of 34 cases of abnormal gonadal differentiation by ultrasonography and chromosome examination

作　　者：庞云[1] 鲁树坤[1] 张雁[1] 王勇强[2] 

机构地区：[1]北京大学深圳医院超声科,深圳市518036 [2]北京大学深圳医院遗传实验室,深圳市518036

出　　处：《临床超声医学杂志》2011年第7期465-468,共4页Journal of Clinical Ultrasound in Medicine

摘　　要：目的探讨超声诊断性腺分化异常的临床价值。方法回顾性分析我院34例性腺分化异常患者的临床及超声资料,并与染色体实验室结果对比。结果 34例性腺分化异常患者中,真两性畸形者9例(26%),其中染色体为46XX者5例,46XY者2例,46XX/46XY者2例;男性假两性畸形15例(44%),染色体为46XY;女性假两性畸形8例(24%),染色体为46XX;先天性卵巢功能不全综合1例(3%),染色体为45XO/46XY;混合性性腺发育不良1例(3%),染色体为45XO/46XY。其相应的超声诊断结果如下:真两性畸形7例,符合率78%;男性假两性畸形12例,符合率80%;女性假两性畸形7例,符合率88%。结论超声可检查出患者是否存在性腺、子宫、前列腺及生殖管道等组织器官,并了解其位置、形态结构等情况,结合染色体检查,为患者的性别选择提供客观的影像学依据。Objective To investigate the clinical value of ultrasound in diagnosis of abnormal gonadal differentiation. Methods The clinical and ultrasound data of 34 cases of abnormal gonadal differentiation were analyzed retrospectively, the results were compared with those of chromosome examination. Results In 34 cases, there were 9 cases of true hermaphroditism （26%） , 5 of them were 46XX chromosomal pattein, 2 cases were 46XY and 2 cases were 46XX/46XY. There were 15 cases of male hermaphroditism （44%） with 46XY, 8 cases were pseudan＇henia （24%） with 46XX, 1 case of Turner＇ s syndrome with 45XO/46XY, 1 case of mixed gonadal dysgenesis syndrome with 45XO/46XY. Ultrasonography showed there were 7 cases of true hermaphroditism, the coincidence rate was 78%, 12 cases of male hermaphroditism （ 80% ）, the coincidence rate was 80% , and 7 cases of pseudarrhenia, the coincidence rate was 88%. Conclusion Ultrasound can examine whether patients have gonad, uterus, prostate and genital tract, it also can understand the position and morphological structure. Combined with chromosomal examination, ultrasonography can provide objective image evidence for patient＇ s sex.

关 键 词：性腺分化异常 临床表现 超声检查 诊断 

分 类 号：R445.1[医药卫生—影像医学与核医学] R588[医药卫生—诊断学]