完全性雄激素不敏感综合征1例及文献分析  

Complete androgen insensitivity syndrome:one case report with a literature review

作　　者：王红莉 夏继鹏 朱荣坤 张鹏[1] 郝希伟[1] Wang Hongli;Xia Jipeng;Zhu Rongkun;Zhang Peng;Hao Xiwei(Department of Pediatric Surgery,Affiliated Hospital of Qingdao University,Qingdao 266000,China)

机构地区：[1]青岛大学附属医院小儿外科,青岛266000

出　　处：《临床小儿外科杂志》2025年第3期271-277,共7页Journal of Clinical Pediatric Surgery

基　　金：国家自然科学基金(82293660)。

摘　　要：目的探讨儿童完全性雄激素不敏感综合征的临床特征、诊断及治疗策略。方法回顾性分析2024年3月青岛大学附属医院小儿外科收治的1例完全性雄激素不敏感综合征患儿临床资料。以“complete androgen insensitivity syndrome”为检索词,检索PubMed数据库相关文献;以“完全性雄激素不敏感综合征”为检索词,检索中国知网、万方医学网相关文献;检索时间为2013年1月至2023年10月。收集本院及符合纳排标准文献中完全性雄激素不敏感综合征患儿的一般资料、临床表现、治疗方式及随访结果,并进行总结分析。结果本院收治病例社会性别为女性,年龄13岁2个月,因原发性闭经入院。经临床症状及体征、体表肿物彩色多普勒超声、性激素检查、染色体核型分析确诊为完全性雄激素不敏感综合征,行“腹腔镜下双侧隐睾探查术+双侧睾丸切除术”。病理提示睾丸组织萎缩,曲细精管内未见生精细胞;术后康复出院。随访显示患儿双侧乳腺增生,性激素水平下降,截至目前该患儿一般情况良好。获得符合标准的文献10篇,共报道11例完全性雄激素不敏感综合征患儿,社会性别均为女性,诊断年龄26天至17岁,主要以原发性闭经、腹股沟斜疝就诊,患儿大多具有典型的女性外生殖器外观,7例阴道为盲端,1例阴道长度正常但狭窄;11例均行染色体核型分析,10例为46,XY,1例为47,XXY.ishYp11.3(SRY+);11例均行手术探查,其中1例将性腺重新定位在腹部,1例家属要求暂缓手术,其余9例行性腺切除术。术后随访发现,7例恢复良好(行激素替代治疗,最长随访时间20年),1例出现乳腺增生,3例失访。结论完全性雄激素不敏感综合征是一种罕见疾病,常以原发性闭经就诊,在青春期之前常因腹股沟区肿物被误诊为腹股沟斜疝。当发现女孩腹股沟斜疝或原发性闭经时应考虑该疾病的可能,需通过进一步影像学检查和染色体�Objective To explore the clinical features,diagnoses and therapeutic strategies of complete androgen insensitivity syndrome(CAIS)in children.Methods The relevant clinical data of a child with CAIS were retrospectively reviewed."Complete androgen insensitivity syndrome"was applied as a search term in PubMed,China National Knowledge Infrastructure(CNKI)and WANFANG DATA from January 2013 to October 2023.Along with the relevant literature fulfilling the specified inclusion and exclusion criteria,general profiles,clinical manifestations,treatment protocols and follow-up results of children diagnosed as CAIS were summarized.Results Upon admission,a 13-year-old girl with primary amenorrhea was identified based upon social gender.A definite diagnosis of CAIS was confirmed through comprehensive clinical evaluations of symptoms,physical examinations,color Doppler ultrasonography for body mass evaluation,sex hormone analysis and chromosome karyotypic analysis.Bilateral laparoscopic exploration and subsequent bilateral orchiectomy were performed for cryptorchidism.Pathological diagnosis was testicular tissue atrophy and absence of spermatogenic cells in seminiferous tubules.The child was discharged postoperatively.Subsequent follow-ups revealed bilateral breast hyperplasia and a decline of sex hormone level.To date,the child fared well.Here all of 11 CAIS cases were assigned female at birth.Diagnostic age ranged from 26 days to 17 years.Primary amenorrhea(n=5)and indirect inguinal hernia(n=5)were the predominant clinical manifestations.Most girls exhibited typical female external genitalia.In 7 cases,vagina was imperforate while another case presented with a normal length and a narrow diameter.Karyotype analysis revealed 46,XY(n=10)and 47,XXY.ishYp11.3(SRY+)(n=1).There were relocating gonads in abdomen(n=1),rejection of surgical intervention(n=1)and gonadectomy(n=9).Postoperative follow-ups revealed that 7 children recovered well and received hormone replacement therapy.The longest follow-up period was 20 years.One case deve

关 键 词：雄激素迟钝综合征 性腺 外科手术 儿童 

分 类 号：R726.9[医药卫生—儿科]