完全型雄激素不敏感综合征临床诊断学特征分析

发布时间：2018-03-04 05:26

本文选题：性分化障碍　切入点：受体　出处：《中华诊断学电子杂志》2016年04期 　论文类型：期刊论文

【摘要】：目的探讨完全型雄激素不敏感综合征的临床诊断学特征。方法回顾性分析2例完全型雄激素不敏感综合征患者的临床资料并复习相关文献。结果 2例患者社会性别均为女性,从小按女性抚养,以原发闭经就诊。体检:腋毛阴毛稀少,乳房发育,阴蒂长,阴道呈盲端。盆腔超声显示未探及子宫和双附件,腹部CT检查提示两侧腹股沟处有肿块。性激素:例1患者促卵泡生成素和促黄体生成素均增高,例2患者促黄体生成素升高,其余未见明显异常。2例患者的染色体检查为男性核型,Y染色体微缺失检查SRY基因存在,腹股沟部肿块病理学检查为睾丸组织。结论对于原发闭经患者,妇科检查为阴道呈盲端,B超检查未探及子宫和附件的患者,应做染色体检查和SRY基因检测,排除完全型雄激素不敏感综合征可能性。
[Abstract]:Objective to investigate the clinical features of complete androgen insensitivity syndrome (DDS). Methods the clinical data of 2 patients with complete androgen insensitivity syndrome (DDS) were retrospectively analyzed and the related literature was reviewed. Raised as a young woman, with primary amenorrhea. Physical examination: axillary pubic hair rare, breast development, clitoris long, vagina blind. Pelvic ultrasound showed no uterus and double appendages. Abdominal CT examination showed that there were masses in both sides of inguinal region. Sex hormone: follicle stimulating hormone and luteinizing hormone were increased in case 1 and luteinizing hormone were increased in case 2. The chromosome examination of the other 2 cases showed no obvious abnormality. The results showed that the presence of SRY gene was detected in male karyotype Y chromosome microdeletion, and the pathological examination of inguinal mass was testicular tissue. Conclusion for the primary amenorrhea patients, there is no obvious abnormality. The gynecological examination showed that the vagina was blind, and the patients whose uterus and appendages were not detected by B-ultrasound should do chromosome examination and SRY gene test to rule out the possibility of complete androgen insensitive syndrome.
【作者单位】：内蒙古医科大学附属医院妇产科;
【基金】：内蒙古自治区自然科学基金(2010MS1103)
【分类号】：R711.1

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