完全型雄激素不敏感综合征病例的临床表型及基因突变分析  

Clinical phenotype and gene mutation analysis of complete androgen insensitivity syndrome

作　　者：丛潇怡 吴维青[2] 罗小金 胡亮 刘效伊 牛宏艳 刘维强 刘晓翌[3] CONG Xiaoyi;WU Weiqing;LUO Xiaojin;HU Liang;LIU Xiaoyi;NIU Hongyan;LIU Weiqiang;LIU Xiaoyi(Longgang District Maternity&Child Healthcare Hospital of Shenzhen City,Longgang Maternity and Child Institute of Shantou University Medical College,Shenzhen,Guangdong 518172,China;Southern Medical University Affiliated Shenzhen Maternity&Child Healthcare Hospital,Shenzhen,Guangdong 518028,China;Department of Laboratory Medicine,Peking University Shenzhen Hospital,Shenzhen,Guangdong 518035,China)

机构地区：[1]深圳市龙岗区妇幼保健院/汕头大学医学院龙岗妇幼临床学院,广东深圳518172 [2]南方医科大学附属深圳市妇幼保健院,广东深圳518028 [3]北京大学深圳医院检验科,广东深圳518035

出　　处：《中国优生与遗传杂志》2023年第9期1917-1920,共4页Chinese Journal of Birth Health & Heredity

基　　金：广东省卫计委项目(A2018213);深圳市龙岗区科技局课题(LGKCYLWS2020157)。

摘　　要：目的 本研究对一例完全型雄激素不敏感综合征(CAIS)患者的雄激素受体(AR)基因进行一代测序分析,寻找致病的遗传变异位点,并对这一类患者的发病机制、临床表型以及相应的诊疗方案进行探讨。方法 利用PCR扩增和一代测序等技术检测AR基因的8个外显子以及外显子与内含子之间的剪切区DNA序列,并对患者手术切除后的性腺组织进行病理分析。结果 一代测序结果为患者AR基因第7外显子发生错义突变:c.2566C>T(p.R856C),术后病理结果显示性腺组织为未发育的曲细精管。结论 本研究明确了一例完全型雄激素不敏感综合征患者的基因突变方式,总结了此类患者的相关临床表型及治疗方法,可为此类疾病的诊断、病因查找以及遗传咨询提供借鉴。Objective In this study,a generation sequencing analysis was conducted on the androgen receptor(AR)gene of a patient with complete androgen insensitivity syndrome(CAIS)to search for the pathogenic genetic variation sites.The pathogenesis,clinical phenotypes and corresponding treatments of these patients were also discussed.Methods The AR gene exons and the splice region DNA sequences between exons and introns of this patient were amplified by PCR and sequenced directly,and we also analyzed the gonadal tissues of the patient after surgery.Results A missense mutation in the 7th exon of the AR gene was detected:C.2566C>T(p.R856C).Postoperative pathological result showed that gonadal tissues were undeveloped convoluted seminiferous tubules.Conclusion We identified the AR gene mutation of a patient with complete androgen insensitivity syndrome and summarized the clinical phenotypes and treatments of these patients,which are useful for the diagnosis,etiology search and genetic counseling of these diseases.

关 键 词：完全型雄激素不敏感综合征 雄激素受体 基因突变 

分 类 号：R596[医药卫生—内科学]