Turner综合征中额外小标记染色体的临床意义探索  

Clinical significance of small supernumerary marker chromosome in Turner syndrome

作　　者：郭苗 陈洁[1] 罗敏[1] 邓姗[1] 田秦杰[1] GUO Miao;CHEN J ie;LUO Min;DENG Shan;TIAN Qin-jie(Department of Obstetrics and Gynecology,Peking Union Medical College Hospital,Peking Union Medical College/Chinese Academy of Medical Science,Beijing 100730)

机构地区：[1]中国医学科学院北京协和医学院北京协和医院妇科内分泌与生殖中心,北京100730

出　　处：《生殖医学杂志》2021年第3期297-303,共7页Journal of Reproductive Medicine

基　　金：国家自然科学基金项目(81671424)。

摘　　要：目的总结额外小标记染色体(sSMC)阳性的Turner综合征(TS)患者的临床特征,探讨其临床意义。方法回顾性分析1984年2月至2020年7月北京协和医院收治的244例性发育异常患者的临床资料,包括年龄、社会性别、主诉、现病史(除主要症状及诊治病程外,还关注生长发育情况及智力状况)、既往史、体格检查(包括TS的相应体征)、专科检查(第二性征发育、外生殖器发育、阴道检查)、辅助检查(染色体核型、性激素检测、超声检查)、手术情况及术后病理。结果(1)244例性发育异常患者中有69例TS患者,其中sSMC阳性患者13例(占TS的18.8%),就诊年龄为3~28岁,平均年龄(14.3±6.4)岁,均具有典型的TS临床表现,但其中4例有外生殖器性别模糊。(2)10例≥10岁患者的激素水平如下:FSH水平高于正常值;E2水平除2例在正常值范围外,其余均低于正常值;除2例睾酮水平升高外,其余均下降。(3)13例sSMC阳性患者中11例进行了SRY基因检测,其中SRY阳性10例(90.9%),SRY阴性1例(9.1%)。10例sSMC和SRY阳性患者中,雄激素升高并同时伴有多毛及阴蒂增大患者2例,单纯阴蒂增大者2例。(4)9例sSMC和SRY阳性患者行性腺切除术,术后病理显示1例(11.1%)出现肿瘤,左侧为性腺母细胞瘤伴原位精原细胞瘤,右侧为原位精原细胞瘤。结论sSMC阳性TS患者检测发现SRY阳性率达90.9%,且该类患者性腺肿瘤发生风险明显增高,临床推荐sSMC阳性患者应常规行SRY检测,对于SRY阳性患者应尽早行双侧性腺切除术,预防肿瘤的发生。Objective:To summarize the clinical characteristics of Turner syndrome with small supernumerary marker chromosome(sSMC),and discuss its clinical significance and management.Methods:The clinical data of 244 patients with sex development disorders admitted to Peking Union Medical College Hospital from February 1984 to July 2020 were retrospectively analyzed.The clinical data included age,gender,chief complaint,current medical history(in addition to the main symptoms and the course of diagnosis and treatment,the growth and development and intelligence status were paid attention to),past history,physical examination(including the corresponding signs of Turner syndrome),special examination(secondary sexual development,external genital development,vaginal examination),auxiliary examination(chromosome karyotype,sex hormone detection,ultrasound examination),operation and postoperative pathology.Results:(1)Among the 244 patients with sex development disorders,69 patients were Turner syndrome,13(18.8%)of them were sSMC positive.Their age ranged from 3 to 28 years old with an average of(14.3±6.4)years old.The 13 sSMC positive patients all had typical clinical manifestations of Turner syndrome except ambiguous genitalia in 4 patients.(2)The hormone levels of 10 patients≥10 years old were as follows:FSH levels were elevated;E2 levels were lower than normal except 2 cases in the normal range;the mean testosterone levels were lower except 2 cases with increased level.(3)SRY gene testing was performed in 11 of 13 sSMC positive patients,10(90.9%)were SRY positive and 1(9.1%)was SRY negative.Among 10 patients with sSMC&SRY positive,2 patients had androgen elevation companied hirsutism and clitoral enlargement and 2 patients had clitoral enlargement only.(4)Nine patients with sSMC and SRY positive underwent gonadectomy.Postoperative pathological findings showed that 1(11.1%)had tumorigenesis in postoperation pathological report,and the left gonadal was gonadoblastoma with seminoma in situ and right was gonadal seminoma in situ.C

关 键 词：性发育异常 TURNER综合征 +mar sSMC 

分 类 号：R596[医药卫生—内科学]