摘要
目的分析雄激素不敏感综合征(androgen insensitivity syndrome,AIS)的临床特点及治疗。方法对1993年1月-2019年12月解放军总医院第一医学中心内分泌科收治的临床确诊的15例AIS患者的临床症状、实验室检查、病理及治疗等资料进行回顾性分析。结果完全型雄激素不敏感综合征(complete androgen insensitivity syndrome,CAIS)患者10例,社会性别均为女性,表现为女性外观,首诊原因包括原发性闭经(7例)、腹部包块(2例)和外阴幼稚(1例)。不完全型雄激素不敏感综合征(incomplete androgen insensitivity syndrome,IAIS)患者5例,表现为外生殖器发育异常,首诊原因包括两性畸形(4例)和阴茎短小和乳房发育(1例)。患者首诊年龄(18.2±5.3)岁,青春期启动年龄(14.9±2.1)岁。基线性激素水平:睾酮(30.6±16.3)nmol/L、促黄体生成素(22.5±10.3)mIU/ml、卵泡刺激素(13.6±8.3)IU/L。9例CAIS患者行性腺切除术,性腺病理均表现为发育不良的曲细精管、伴间质细胞增生;其中4例术后行雌激素替代治疗维持女性第二性征。结论AIS是一种罕见的性发育异常疾病,临床表现复杂多变。早期识别和多学科协作精准治疗有助于改善预后。
Objective To analyze the clinical characteristics and therapy of androgen insensitivity syndrome(AIS).Methods A retrospective analysis about clinical data,pathology and treatment was performed in 15 AIS patients admitted to the First Medical Center of Chinese PLA General Hospital from January 1993 to December 2019.Results Totally 10 patients with complete androgen insensitivity syndrome(CAIS)presented with female appearance.The main manifestations were primary amenorrhea in 7 cases,abdominal mass in 2 cases,and vulva infantilism in 1 case.Other 5 patients with incomplete androgen insensitivity syndrome(IAIS)presented with external genital abnormalities(hypospadias and clitoral penis in 4 cases)and short penis combined with breast development in 1 case.The average age at first consultation was(18.2±5.3)years and the puberty initiation was(14.9±2.1)years old.The serum testosterone,luteinizing hormone and follicle stimulating hormone were(30.6±16.3)nmol/L,(22.5±10.3)mIU/ml and(13.6±8.3)IU/L,respectively.Nine cases with CAIS accepted sex gland resection,in which 4 patients had estrogen replacement therapy to maintain secondary sexual characteristics;The gonad pathological examination showed dysplasia of seminiferous tubule and interstitial cell hyperplasia.Conclusion AIS is a rare sexual differentiation disorder,with complex clinical manifestations.Early identification and multidisciplinary collaboration is necessary for precision therapy and better prognosis.
作者
曲玉清
王先令
窦京涛
吕朝晖
巴建明
杜锦
裴育
郭清华
母义明
QU Yuqing;WANG Xianling;DOU Jingtao;LYU Zhaohui;BA Jianming;DU Jin;PEI Yu;GUO Qinghua;MU Yiming(Department of Endocrinology,the First Medical Center,Chinese PLA General Hospital,Beijing 100853,China)
出处
《解放军医学院学报》
CAS
2020年第7期693-696,共4页
Academic Journal of Chinese PLA Medical School
关键词
雄激素不敏感综合征
性发育异常
隐睾
睾丸女性化
两性畸形
androgen insensitivity syndrome
sex development abnormalities
cryptorchid
testicular feminization
hermaphrodism
作者简介
曲玉清,女,硕士,医师。现于烟台毓璜顶医院莱山分院内分泌科工作。研究方向:性发育异常性疾病。Email:1214024106@qq.com;通信作者:王先令,男,博士,主任医师,硕士生导师。Email:wangxianling1972@sohu.com
