完全性雄激素不敏感综合征合并苗勒管残留临床特点的分析与探讨  

Analysis and Discussion of Clinical Features of Complete Androgen Insensitivity Syndrome Combined with Müllerian Duct Remnants

作　　者：邱珊娇 许钰英 张军[1] 陈德禄 徐诚 马华梅[1] 刘钧澄[1] 林少宾[1] QIU Shanjiao;XU Yuying;ZHANG Jun;CHEN Delu;XU Cheng;MA Huamei;LIU Juncheng;LIN Shaobin(The First Affiliated Hospital of Sun Yat-sen University,Guangzhou 510080,China;Huangbeiling Community Health Centre of Luohu Hospital Group,Shenzhen 518000,China)

机构地区：[1]中山大学附属第一医院儿科,广东广州510080 [2]深圳市罗湖医院集团黄贝岭社区健康服务中心,广东深圳518000

出　　处：《中山大学学报（医学科学版）》2024年第6期1026-1035,共10页Journal of Sun Yat-Sen University:Medical Sciences

摘　　要：【目的】分析完全性雄激素不敏感综合征(CAIS)合并苗勒管残留(MDR)患儿资料,并综述既往文献的报告,提高对CAIS的临床表现、病理生理的再认识。【方法】本研究通过对患儿病史回顾,体格检查,染色体、全外显子基因测序、促卵巢刺激素、黄体生成素、总睾酮、雌二醇、抗苗勒管激素、抑制素B、硫酸脱氢表雄酮、雄烯二酮、17羟孕酮等实验室检查,以及盆腔彩超、盆腔磁共振等影像学检查来诊断完全性雄激素不敏感综合征,并在腹腔镜下发现苗勒管结构。同时总结分析既往文献报道的完全性雄激素不敏感合并苗勒管结构类似病例。【结果】该患儿临床表现为女性表型,以原发性闭经来就诊,卵泡刺激素(FSH)、黄体生成素(LH)、睾酮升高,盆腔MRI示双侧隐睾,未见子宫附件,染色体核型46,XY,全外显子基因检测:AR基因半合子致病性变异c.2359C>T(p.Arg787*),AMH、AMHR2基因检测无异常。在腹腔镜下腹腔探查时发现发育不良睾丸及发育不良子宫。病理提示睾丸旁存在输卵管样结构。在数据库中共检索到基因确诊为CAIS并存MDR,且有详实数据的病例共11例。总结发现合并MDR的首诊表现、生化资料、性腺病理与无MDR的CAIS患者类似。【结论】本研究报道的CAIS患儿合并MDR,拓宽了CAIS的临床表现谱,为苗勒管退化的基础研究提供一种非依赖于AMH-AMHR2信号调控的思路。【Objective】To present a case of complete androgen insensitivity syndrome(CAIS)coexisting with Müllerian duct remnants(MDR)and to review previous reports in the literature to enhance the understanding of the clinical manifestations and pathophysiology of CAIS.【Methods】The study aimed to diagnose complete androgen insensitivity syndrome(CAIS)by conducting physical examinations,chromosomal analysis,whole exome sequencing,laboratory tests including follicle-stimulating hormone(FSH),luteinizing hormone(LH),total testosterone,estradiol,anti-Müllerian hormone(AMH),inhibin B,dehydroepiandrosterone sulfate(DHEAS),androstenedione,17-hydroxyprogesterone,and imaging studies such as pelvic ultrasound and pelvic magnetic resonance imaging(MRI).Laparoscopy revealed the presence of Müllerian duct structures.Additionally,the study reviewed similar cases of CAIS combined with Müllerian duct remnants reported in the literature.【Results】The child presented with female phenotype,elevated levels of FSH,LH,and testosterone.Pelvic MRI showed bilateral cryptorchidism without visible uterus or fallopian tubes.The chromosomal karyotype was 46,XY,and whole exome sequencing identified a pathogenic variant in the androgen receptor(AR)gene,c.2359 C>T(p.Arg 787*).No abnormalities were found in the AMH and AMHR 2 gene tests.Laparoscopic exploration revealed underdeveloped testes and an underdeveloped uterus.Pathology showed the presence of fallopian tube-like structures next to the testicles.A total of 11 cases with genetically confirmed diagnosis of CAIS coexisting with MDR were retrieved from the database.The findings suggest that the initial clinical presentation,biochemical data,and gonadal pathology of CAIS with MDR are similar to those without MDR.【Conclusion】The study reports a patient with CAIS coexisting with MDR,which broadens the clinical spectrum of CAIS and provides a perspective for basic research on Müllerian duct regression that is independent of the AMH-AMHR 2 signaling pathway.

关 键 词：完全性雄激素不敏感综合征 苗勒管 苗勒管残留 性发育异常 雄激素受体基因 

分 类 号：R725.8[医药卫生—儿科]