摘要
目的收集并分析Turner综合征(turner syndrome,TS)患者的临床资料,加强对TS患者临床特征及染色体异常的认识。方法收集15例TS患者的病史,以及实验室、影像学检查结果。结果 15例TS患者中发现染色体核型4种,9例患者核型为45,X0,1例为46,XX/45,X0,4例为46,X,i(Xq),1例为46,X,inv(Xq)。初诊年龄≤18岁的患者10例,其中8例身高在同龄女童身高第3百分位数以下,2例在第10百分位数以下。15例患者均存在不同程度的乳房及外阴发育异常,阴毛、腋毛均缺如。12例患者子宫发育异常;10例卵巢发育异常。12例患者雌二醇降低,卵泡刺激素、黄体生成素相对偏高。8例患者合并桥本甲状腺炎,其中2例合并亚临床甲状腺功能亢进,1例合并Graves’甲亢,3例合并亚临床甲状腺功能减退,1例合并甲状腺功能减退。5例肝功能异常;1例合并2型糖尿病。合并先天性心脏病-房间隔缺损1例;合并马蹄肾1例。结论 TS患者染色体核型众多,临床体征各不相同,但均有生长发育迟缓及性腺发育不良的特征。
Objective To collect and analyze the clinical data of patients with Turner syndrome（TS）,and to strengthen the understanding of clinical features and chromosomal abnormalities in patients with TS.Methods A total of 15 patients with TS were included and the results of laboratory tests and imaging findings were collected.ResultsThere were 4kinds of chromosome karyotypes in these patients,9cases were 45,X0,1case was 46,XX/45,X0,4case was 46,X,i（Xq）and 1case was 46,X,inv（Xq）.The primary diagnosis age of 10 patients was ≤18years old.The height 8patients was less than the third percentage of height in girls of the same age,2of them less than the tenth percentage.Breast and vulva with different degrees of dysplasia were found in 15 patients and their pubic hairs and armpit hairs were absent.The abnormal development of uterine and ovarium were 12 and 10cases,respectively.Totally 12 cases of patients showed decrease in estradiol,but their follicle stimulating hormone and luteinizing hormone were relatively high.Totally 8cases of patients associated with Hashimoto thyroiditis,in which the complications of subclinical hyperthyroidism,Graves＇ hyperthyroidism,subclinical hypothyroidism and hypothyroidism were 2,1,3,1cases,respectively.Totally 5cases of patients showed abnormality in liver function;1case of them had type 2diabetes mellitus.There was 1case of them had combined atrial septal defect of congenital heart disease and 1associated with the disease of horseshoe kidney.Conclusion The patients with TS have many different kinds of chromosome karyotypes and clinical signs,but they all have the characteristics of growth retardation and gonadal dysgenesis.
出处
《临床荟萃》
CAS
2017年第8期681-685,共5页
Clinical Focus
关键词
特纳综合征
染色体
turner syndrome
chromosomal
