李鹏,蔡胜,姜玉新.超声诊断雄激素不敏感综合征[J].中国医学影像技术,2009,25(11):2073~2075
超声诊断雄激素不敏感综合征
Ultrasonography diagnosis of androgen insensitivity syndrome
投稿时间:2009-04-28  修订日期:2009-06-24
DOI:
中文关键词:  超声检查  雄激素不敏感综合征  卵睾  两性畸形
英文关键词:Ultrasonography  Androgen insensitivity syndrome  Ovotestis  Hermaphroditism
基金项目:
作者单位E-mail
李鹏 中国医学科学院 北京协和医学院 北京协和医院超声诊断科,北京 100730  
蔡胜 中国医学科学院 北京协和医学院 北京协和医院超声诊断科,北京 100730  
姜玉新 中国医学科学院 北京协和医学院 北京协和医院超声诊断科,北京 100730 jiangyx@pumch.ac.cn 
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中文摘要:
      目的 探讨雄激素不敏感综合征(AIS)患者生殖系统的声像图特点及超声对此病的诊断价值。 方法 回顾性分析18例AIS患者的就诊原因、主要体征、性激素检查结果以及生殖系统声像图特征。 结果 ①除1例青春期前患者,余均因原发性闭经就诊。②患者表现为不同程度的女性外观,外生殖器模糊,类似女性。查体均存在盲端阴道,4例可见少量稀疏阴毛,15例乳房发育良好,触诊检出腹股沟区可疑性腺包块共11个。③睾酮明显增高15例,雌激素增高3例,卵泡刺激素及黄体生成素升高3例,余性激素水平均在正常范围。④超声检查正确判断子宫缺如14例,误判子宫存在4例;准确检出异位性腺31个,其中正确判断为睾丸者23个,另5个漏诊。 结论 AIS患者有典型的临床症状、体征和较特异的实验室检查,超声检查可提供性腺及生殖道的有无、位置和解剖情况,对AIS的正确诊断及手术术式的选择有重要的临床价值。
英文摘要:
      Objective To explore the ultrasonic characteristics of reproductive system and the value of ultrasound in the diagnosis of androgen insensitivity syndrome (AIS). Methods Eighteen patients were confirmed of AIS; their symptoms, positive physical examinations, basic blood hormonal tests and the ultrasound features were analyzed. Results ①The main complaints of all but one patient was primary amenorrhea. ②All patients had variable degree of feminization, ambiguous genitalia and short pseudovagina, 4 patients had sparse pubic hair, 15 patients had well-developed breasts, while 11 nodulars suspected of gonad were found in the inguinal region. ③Elevated levels of blood testosterone, estrogen, follicle-stimulating hormone and luteinizing hormone were found in 15, 3, 3 and 3 patients, respectively. ④Ultrasound examination revealed the absence of uterus in 14 patients, misdiagnosed the presence of uterus in 4 patients; 31 gonads were visualized in the pelvic or inguinal area with ultrasound, among them 23 were diagnosed ectopic testicle correctly, another 5 gonads were missed. Conclusion AIS is a disease with specific manifestations and laboratory examination. Ultrasound is the primary modality for establishing the presence or absence of gonads and müllerian derivatives, and is of great significance in the diagnosis of AIS and the selection of appropriate surgical approach.
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