發(fā)布時間：2018-03-04 05:26

  本文選題：性分化障礙　切入點：受體　出處：《中華診斷學電子雜志》2016年04期 　論文類型：期刊論文

【摘要】：目的探討完全型雄激素不敏感綜合征的臨床診斷學特征。方法回顧性分析2例完全型雄激素不敏感綜合征患者的臨床資料并復習相關(guān)文獻。結(jié)果 2例患者社會性別均為女性,從小按女性撫養(yǎng),以原發(fā)閉經(jīng)就診。體檢:腋毛陰毛稀少,乳房發(fā)育,陰蒂長,陰道呈盲端。盆腔超聲顯示未探及子宮和雙附件,腹部CT檢查提示兩側(cè)腹股溝處有腫塊。性激素:例1患者促卵泡生成素和促黃體生成素均增高,例2患者促黃體生成素升高,其余未見明顯異常。2例患者的染色體檢查為男性核型,Y染色體微缺失檢查SRY基因存在,腹股溝部腫塊病理學檢查為睪丸組織。結(jié)論對于原發(fā)閉經(jīng)患者,婦科檢查為陰道呈盲端,B超檢查未探及子宮和附件的患者,應(yīng)做染色體檢查和SRY基因檢測,排除完全型雄激素不敏感綜合征可能性。
[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.
【作者單位】： 內(nèi)蒙古醫(yī)科大學附屬醫(yī)院婦產(chǎn)科;
【基金】：內(nèi)蒙古自治區(qū)自然科學基金(2010MS1103)
【分類號】：R711.1

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