身材矮小合并46XY性反转1例及文献复习  

One case of short stature combined with 46XY sex reversal and literatures review

作　　者：何明明[1,2] 李艳英 朱惠娟[2,3] 汲宝兰 崔维县 张梅[1,2] HE Mingming;LI Yanying;ZHU Huijuan;JI Baolan;CUI Weixian;ZHANG Mei(Department of Endocrinology,the Affiliated Hospital of Jining Medical University;Chinese Center for Behavioral Medical Research in Growth and Development,Jining 272029,China;Department of Endocrinology,Peking Union Medical College Hospital,Beijing 100730,China)

机构地区：[1]济宁医学院附属医院内分泌科 [2]中国生长发育行为医学研究中心,济宁272029 [3]北京协和医院内分泌科,北京100730

出　　处：《济宁医学院学报》2018年第2期120-123,131,共5页Journal of Jining Medical University

基　　金：山东省人口和计划生育委员会项目(2014年第32号);济宁市科技助推新旧动能转换计划项目(2017SMNS007)

摘　　要：目的分析1例46,XY性反转患者的诊治过程并结合文献复习,探讨46,XY性反转的临床特征及诊治思路。方法报告1例以"身材矮小"就诊的46,XY性反转患者的临床表现、实验室检查、染色体核型及Y染色体性别决定区(sex-determining region of Y,SRY)基因检测结果,并结合文献复习,总结46,XY性反转综合征的临床特征。结果 13岁6月女性患儿,因"身材矮小3年"就诊,双侧乳腺Tanner I期,幼稚外阴,阴毛Tanner I期,雌二醇、孕酮水平低,促黄体生成素(luteinizing hormone,LH)、促卵泡刺激素(follicle stimulating hormone,FSH)高,染色体核型46,XY,SRY基因检测阳性,诊断为46,XY性反转综合征。结论临床上以"身材矮小"就诊合并性发育延迟的患儿,需完善染色体核型分析、基因检测,以早诊断、早治疗。Objective According to the process of diagnosis and treatment of one case of 46XY sex reversal and literature review,we aimed to discuss the clinical characteristics,diagnosis and treatment of 46XY sex reversal syndrome.Methods The clinical manifestation,laboratory examination,chromosomal karyotype and sex-determining of Y(SRY)gene test results were reported in 1 case of 46XY patient with short stature.Previous literatures on 46XY sex reversal were retrieved and the clinical features were systematically summarized.Results A 13.5 years old girl was admitted to our hospital due to short stature.Physical examination displayed bilateral breast Tanner I stage,infant vulva and pubic Tanner I stage.Laboratory data showed the decreased levels of estradiol and progesterone and elevated levels of luteinizing hormone(LH)and follicle stimulating hormone(FSH).Genetic examination revealed that the chromosome karyotype was 46XY and SRY detection was positive.Therefore,the patient was diagnosed as 46XY sex reversal syndrome.Conclusion In clinic,children with short stature combined with delayed sexual development need to be performed the chromosome karyotype analysis and gene detection in order to make early diagnosis and treatment.

关 键 词：身材矮小 性发育延迟 46 XY SRY基因 

分 类 号：R584[医药卫生—内分泌]