荧光原位杂交技术结合染色体核型分析在儿童性染色体异常导致性发育异常中的应用  

Application of fluorescence in situ hybridization combined with chromosomal karyotyping analysis in children with disorders of sex development due to sex chromosome abnormalities

作　　者：王高伟 王金[1] 张振华[1] 李瑞[1] 李林飞 李东晓 张万存 张耀东 王美烨 Wang Gaowei;Wang Ji;Zhang Zhenhua;Li Rui;Li Linfei;Li Dongziao;Zhang Wancun;ZhangYaodong;Wang Meiye(Henan Provincial Key Laboratory of Children's Genetics and Metabolic Diseases,Children's Hospital Affiliated to Zhengzhou University,Henan Children's Hospital,Zhengzhou Children's Hospital,Zhengzhou,Henan 450018,China)

机构地区：[1]郑州大学附属儿童医院,河南省儿童医院郑州儿童医院,河南省儿童遗传代谢性疾病重点实验室,郑州450018

出　　处：《中华医学遗传学杂志》2023年第8期947-953,共7页Chinese Journal of Medical Genetics

基　　金：河南省医学科技攻关联合共建项目(LHGJ20220751)。

摘　　要：目的回顾性分析性染色体异常导致的性发育异常(DSD)患儿的性染色体遗传学分布及临床表现。方法分析2013年1月至2022年3月就诊于河南省儿童医院郑州儿童医院14857例存在矮小、隐睾、尿道下裂、隐匿性阴茎、生长发育落后等DSD患儿的临床资料,应用荧光原位杂交技术(FISH)和染色体核型分析遗传学病因。结果共检出423例由性染色体异常导致的DSD患儿,阳性率检出约为2.85%(423/14857)。符合特纳综合征(TS)特征性染色体为XO及其嵌合体患儿有327例(77.30%)。其中,社会性别为女性患儿325例,临床表现以身材矮小为主,社会性别为男性患儿2例,主要表现为身材矮小、隐睾、尿道下裂。符合克氏综合征(KS)特点性染色体为XXY及其嵌合体患儿有62例(14.66%),主要临床表现为隐睾、隐匿性阴茎、尿道下裂等。性染色体为XO/XY嵌合体19例(4.49%),女性患儿(11例)临床表现均为矮小,男性患儿(8例)临床表现均有尿道下裂,6例在尿道下裂基础上合并患有隐睾、隐匿性阴茎、睾丸扭转等。其他类型15例(3.55%),包含性染色体为XYY及其嵌合体患儿9例,临床表现主要为隐睾、尿道下裂等,性染色体为47,XXX患儿4例,临床表现有矮小、阴唇粘连等,46,XX/46,XY患儿1例,临床表现为小阴茎,尿道下裂,并指和多指等;XXXX综合征1例,主要表现为生长发育迟缓。结论儿童期性染色体异常引起的DSD中,从性染色体异常分布来看,符合TS性染色体特点患儿占比最高,其中,嵌合体(XO/XX)患儿占比最高。从临床表现来看,女性患儿主要为矮小,男性患儿主要为外生殖器异常。早诊断、早治疗,对患儿达到理想的生活状态尤为重要。Objective To retrospectively analyze sex chromosomal abnormalities and clinical manifestations of children with disorders of sex development(DSD).Methods A total of 14857 children with clinical features of DSD including short stature,cryptorchidism,hypospadia,buried penis and developmental delay were recruited from Zhengzhou Children's Hospital from January 2013 to March 2022.Fluorescencein situ hybridization(FISH)and chromosomal karyotyping were carried out for such children.Results In total 423 children were found to harbor sex chromosome abnormalities,which has yielded a detection rate of 2.85%.There were 327 cases(77.30%)with Turner syndrome and a 45,X karyotype or its mosaicism.Among these,325 were females with short stature as the main clinical manifestation,2 were males with short stature,cryptorchidism and hypospadia as the main manifestations.Sixty-two children(14.66%)had a 47,XXY karyotype or its mosaicism,and showed characteristics of Klinefelter syndrome(KS)including cryptorchidism,buried penis and hypospadia.Nineteen cases(4.49%)had sex chromosome mosaicisms(XO/XY),which included 11 females with short stature,8 males with hypospadia,and 6 cases with cryptorchidism,buried penis,testicular torsion and hypospadia.The remainder 15 cases(3.55%)included 9 children with a XYY karyotype or mosaicisms,with main clinical manifestations including cryptorchidisms and hypospadia,4 children with a 47,XXX karotype and clinical manifestations including short stature and labial adhesion,1 child with a 46,XX/46,XY karoytpe and clinical manifestations including micropenis,hypospadia,syndactyly and polydactyly,and 1 case with XXXX syndrome and clinical manifestations including growth retardation.Conclusion Among children with DSD due to sex chromosomal abnormalities,sex chromosome characteristics consistent with Turner syndrome was most common,among which mosaicism(XO/XX)was the commonest.In terms of clinical manifestations,the females mainly featured short stature,while males mainly featured external genital abnormalit

关 键 词：儿童 性染色体异常 性发育异常 荧光原位杂交 嵌合体 

分 类 号：R725.9[医药卫生—儿科]