儿童期特纳综合征的细胞遗传学及临床研究
发布时间：2018-11-01 16:58
【摘要】：目的：1.探讨特纳综合征(Turner Syndrome, TS)患儿染色体核型与临床表型之间的关系。2.探讨TS患儿正常X染色体来源对于临床表型的影响。方法：1.将2005年2月至2014年12月期间就诊于中日友好医院小儿内分泌专病门诊、北京协和医院内分泌科、上海新华医院儿童内分泌科、北京大学第三医院儿科诊断明确的71例特纳综合征患儿作为研究对象,根据染色体核型分析结果分为45XO组与其他核型组(包括等臂染色体、嵌合型、环型、Y染色体、Xp缺失、Xq缺失、Mar染色体及其他)两组,对两组患儿的所有临床资料进行回顾性分析。2.选取染色体核型为45XO、46Xdel(Xp)、46Xi(xq)的总计26例TS患儿作为研究对象,利用位于X染色体短臂2区1带2亚带(Xp21.2)的DMD基因的短串联重复序列(STR)鉴别患儿正常X染色体的来源,并分为来源于母亲的Xm组与来源于父亲的Xp组,分析其对于临床表型的影响。结果：1.71例患儿中,45XO组29例,其他核型组42例。身材矮小在45XO组中更常见,占29例(100%),而其他核型组中分别占35例(83.3%),且两组之间有统计学意义(P0.05)；其他临床表型如甲减、肥胖、糖耐量异常或糖尿病、心血管异常、肾脏异常、GH缺乏等在45XO组与其他核型组之间没有统计学意义(P0.05)。2.26例研究对象中Xm组患儿21例(80.8%),平均年龄为(8.6±4.5)岁,中位数为9.0岁,Xp组患儿5例(19.2%),平均年龄为(10.2±4.8)岁,中位数为10.3岁,两组之间的年龄无统计学意义(P为0.73)。TS的各种器官畸形及功能障碍(心血管异常、肾脏异常、糖耐量异常或者糖尿病、GH缺乏)、性激素水平(FSH、LH、E2)在Xm、Xp两组之间无明显统计学意义(P0.05)。低密度脂蛋白、高密度脂蛋白及总胆固醇在两组之间的水平没有统计学意义(P0.05),但是甘油三酯在Xp组中明显高于Xm组,且存在统计学意义(P值0.00)。生长激素治疗前Xm组的身高为(-2.2±0.6)SDS,遗传身高(MPH)为(-0.2±0.7)SDS,骨龄延迟(0.7±1.0)年,Xp组的身高为(-2.6±0.5) SDS, MPH为(0.5±1.0)SDS,骨龄延迟(1.6±1.2)年,两组之间无统计学意义(P0.05)。两组患儿的身高与父亲身高、母亲身高均没有明显的关系(P0.05)。两组患儿治疗时生长激素的用量基本一致(P为0.23).Xm组患儿及Xp组患儿在这1年的治疗过程中相对于实际年龄增长的身高分别为(0.4±0.7) SDS、(0.5±0.6) SDS, P值为0.52,两组间差异无统计学意义；相对于骨龄身高增长为(0.2±0.4) SDS、 (0.3±0.3) SDS,P值为0.74,两组间差异无统计学意义。结论：1.该研究证实了染色体核型与身材矮小、颈蹼、甲减之间确实存在一定相关性,但是临床表现不能替代染色体核型分析,因此还需完善染色体核型分析以明确诊断。2.该研究并没有发现X染色体来源对于体表特征、各种器官畸形或功能障碍、生长激素治疗反应、卵巢功能的影响,但是我们发现X染色体来源对于甘油三酯的水平有一定的影响,而具体的影响机制有待于进一步的研究。
[Abstract]:Purpose 1. To investigate the relationship between chromosome karyotype and clinical phenotype in children with Turner syndrome (Turner Syndrome, TS). To investigate the effect of normal X chromosome source on clinical phenotype in children with TS. Method 1: 1. From February 2005 to December 2014, he was admitted to the Department of Endocrinology of Peking Union Hospital, the Department of Endocrinology of Shanghai Xinhua Hospital, and the Department of Pediatric Endocrinology, Sino-Japanese Friendship Hospital. According to the results of chromosome karyotype analysis, 71 children with Turner syndrome diagnosed in pediatrics of Peking University third Hospital were divided into 45XO group and other karyotype groups (including isobaric chromosome, chimeric type, ring type, Y chromosome, Xp deletion). Xq deletions, Mar chromosomes and others, all clinical data of the two groups were retrospectively analyzed. 2. 2. A total of 26 children with TS, whose karyotype was 45XOG 46Xdel (Xp), 46Xi (xq), were selected as study subjects. The source of normal X chromosome was identified by using the short tandem repeat (STR) sequence of DMD gene located in region 1, band 2 subband (Xp21.2) of X chromosome short arm 2, and divided into Xm group from mother and Xp group from father. Its effect on clinical phenotype was analyzed. Results: 1.There were 29 cases in 45XO group and 42 cases in other karyotype group. Short stature was more common in 45XO group (29 cases, 100%), while in other karyotypes group, 35 cases (83.3%), and there was significant difference between the two groups (P0.05). Other clinical phenotypes such as hypothyroidism, obesity, impaired glucose tolerance or diabetes, cardiovascular abnormalities, renal abnormalities, There was no significant difference in GH deficiency between 45XO group and other karyotype groups (P0.05) 2.Twenty one cases (80.8%) in Xm group were in Xm group, the mean age was (8.6 卤4.5) years, the median was 9.0 years old. There were 5 cases (19.2%) in Xp group, the average age was (10.2 卤4.8) years, the median was 10.3 years old. There was no significant difference in age between the two groups (P = 0.73). TS). Renal abnormalities, impaired glucose tolerance or diabetes mellitus, GH deficiency), sex hormone levels (FSH,LH,E2) between the two groups Xm,Xp had no statistical significance (P0.05). The levels of low density lipoprotein, high density lipoprotein and total cholesterol between the two groups were not statistically significant (P0.05), but triglyceride in Xp group was significantly higher than that in Xm group, and there was statistical significance (P0.00). Before growth hormone therapy, the height of Xm group was (-2.2 卤0.6) SDS, genetic height (MPH) was (-0.2 卤0.7) SDS, bone age delay (0.7 卤1.0) years, and that of Xp group was (-2.6 卤0.5) SDS,. MPH was (0.5 卤1.0) SDS, bone age delay (1.6 卤1.2) years, there was no significant difference between the two groups (P0.05). There was no significant relationship between the height of the two groups and the height of the father and mother (P0.05). The dosage of growth hormone was basically the same between the two groups (P = 0. 23). Xm group and Xp group). The height of the two groups was (0. 4 卤0. 7) SDS, in comparison with the actual age in the course of 1 year treatment. (0. 5 卤0. 6) SDS, P) was 0. 52, there was no significant difference between the two groups. Compared with bone age, the increase of height was (0.2 卤0.4) SDS, (卤0.3 卤0.3) SDS,P (0.74), there was no significant difference between the two groups. Conclusion 1. This study confirmed that there is a certain correlation between chromosome karyotype and short stature, webbed neck, hypothyroidism, but clinical manifestation can not substitute for chromosome karyotype analysis, so it is necessary to perfect chromosome karyotype analysis in order to diagnose clearly. 2. The study did not find the effects of X chromosome sources on body surface features, various organ deformities or dysfunction, growth hormone therapy responses, and ovarian function. However, we found that the origin of X chromosome has a certain effect on triglyceride level, and the specific mechanism of the effect needs to be further studied.
【学位授予单位】：北京中医药大学
【学位级别】：硕士
【学位授予年份】：2015
【分类号】：R725.9
本文编号：2304531
[Abstract]:Purpose 1. To investigate the relationship between chromosome karyotype and clinical phenotype in children with Turner syndrome (Turner Syndrome, TS). To investigate the effect of normal X chromosome source on clinical phenotype in children with TS. Method 1: 1. From February 2005 to December 2014, he was admitted to the Department of Endocrinology of Peking Union Hospital, the Department of Endocrinology of Shanghai Xinhua Hospital, and the Department of Pediatric Endocrinology, Sino-Japanese Friendship Hospital. According to the results of chromosome karyotype analysis, 71 children with Turner syndrome diagnosed in pediatrics of Peking University third Hospital were divided into 45XO group and other karyotype groups (including isobaric chromosome, chimeric type, ring type, Y chromosome, Xp deletion). Xq deletions, Mar chromosomes and others, all clinical data of the two groups were retrospectively analyzed. 2. 2. A total of 26 children with TS, whose karyotype was 45XOG 46Xdel (Xp), 46Xi (xq), were selected as study subjects. The source of normal X chromosome was identified by using the short tandem repeat (STR) sequence of DMD gene located in region 1, band 2 subband (Xp21.2) of X chromosome short arm 2, and divided into Xm group from mother and Xp group from father. Its effect on clinical phenotype was analyzed. Results: 1.There were 29 cases in 45XO group and 42 cases in other karyotype group. Short stature was more common in 45XO group (29 cases, 100%), while in other karyotypes group, 35 cases (83.3%), and there was significant difference between the two groups (P0.05). Other clinical phenotypes such as hypothyroidism, obesity, impaired glucose tolerance or diabetes, cardiovascular abnormalities, renal abnormalities, There was no significant difference in GH deficiency between 45XO group and other karyotype groups (P0.05) 2.Twenty one cases (80.8%) in Xm group were in Xm group, the mean age was (8.6 卤4.5) years, the median was 9.0 years old. There were 5 cases (19.2%) in Xp group, the average age was (10.2 卤4.8) years, the median was 10.3 years old. There was no significant difference in age between the two groups (P = 0.73). TS). Renal abnormalities, impaired glucose tolerance or diabetes mellitus, GH deficiency), sex hormone levels (FSH,LH,E2) between the two groups Xm,Xp had no statistical significance (P0.05). The levels of low density lipoprotein, high density lipoprotein and total cholesterol between the two groups were not statistically significant (P0.05), but triglyceride in Xp group was significantly higher than that in Xm group, and there was statistical significance (P0.00). Before growth hormone therapy, the height of Xm group was (-2.2 卤0.6) SDS, genetic height (MPH) was (-0.2 卤0.7) SDS, bone age delay (0.7 卤1.0) years, and that of Xp group was (-2.6 卤0.5) SDS,. MPH was (0.5 卤1.0) SDS, bone age delay (1.6 卤1.2) years, there was no significant difference between the two groups (P0.05). There was no significant relationship between the height of the two groups and the height of the father and mother (P0.05). The dosage of growth hormone was basically the same between the two groups (P = 0. 23). Xm group and Xp group). The height of the two groups was (0. 4 卤0. 7) SDS, in comparison with the actual age in the course of 1 year treatment. (0. 5 卤0. 6) SDS, P) was 0. 52, there was no significant difference between the two groups. Compared with bone age, the increase of height was (0.2 卤0.4) SDS, (卤0.3 卤0.3) SDS,P (0.74), there was no significant difference between the two groups. Conclusion 1. This study confirmed that there is a certain correlation between chromosome karyotype and short stature, webbed neck, hypothyroidism, but clinical manifestation can not substitute for chromosome karyotype analysis, so it is necessary to perfect chromosome karyotype analysis in order to diagnose clearly. 2. The study did not find the effects of X chromosome sources on body surface features, various organ deformities or dysfunction, growth hormone therapy responses, and ovarian function. However, we found that the origin of X chromosome has a certain effect on triglyceride level, and the specific mechanism of the effect needs to be further studied.
【学位授予单位】：北京中医药大学
【学位级别】：硕士
【学位授予年份】：2015
【分类号】：R725.9
【共引文献】
相关期刊论文 前10条
1 杨玉;王荻兰;;207例0～2岁女童单纯乳房早发育相关危险因素分析[J];中国儿童保健杂志;2014年02期
2 罗佳美;何玉清;刘敏;;重组人生长激素治疗青春后期特发性矮小的疗效观察[J];中国当代儿科杂志;2014年02期
3 杨莹;常玲;王彩丽;;先天性肾上腺皮质增生症2例报告[J];贵州医药;2014年01期
4 余东;林宏华;;儿童糖尿病酮症酸中毒30例临床分析[J];安徽医学;2014年07期
5 苏钊;林卫华;;先天性甲状腺功能减低症患儿治疗转归及相关因素研究[J];中国儿童保健杂志;2014年10期
6 郑方圆;王雪梅;王新利;;重组人生长激素治疗对特发性矮小儿童的糖脂代谢及甲状腺功能的影响[J];中国当代儿科杂志;2014年12期
7 薛媛媛;林燕燕;俞建;孙雯;汪永红;;光照条件改变对青春期前雄性金黄地鼠性腺轴的影响[J];中华中医药杂志;2015年01期
8 郭春艳;贺波;呼延佳;尹春燕;肖延风;;重组人生长激素对身材矮小儿童增高疗效的相关影响因素分析[J];中国儿童保健杂志;2015年02期
9 郑方圆;王雪梅;王新利;;心得安运动激发试验对儿童生长激素缺乏症的诊断价值[J];中国当代儿科杂志;2015年02期
10 崔蕴璞;张铭涛;王新利;;不同病因矮身材儿童TW2-R、C、T骨龄评分特征研究[J];中国当代儿科杂志;2015年05期
相关硕士学位论文 前10条
1 赵秋玲;Turner综合征患者脑功能的临床与实验研究[D];北京中医药大学;2013年
2 张薇;性早熟女童抑郁情绪与E_2、FSH、LH水平关系的探讨[D];安徽医科大学;2014年
3 邱明慧;MLPA技术检测矮小儿童GH受体及信号通路相关基因的研究[D];南方医科大学;2014年
4 刘秀君;滋阴降火清胃法对女童ICPP远期心理行为影响的观察[D];广州中医药大学;2014年
5 王亚君;性早熟患儿中医体质类型与证型的相关性研究[D];河南中医学院;2014年
6 熊翔宇;Kisspeptin水平与女童特发性中枢性性早熟的相关性研究[D];南昌大学;2014年
7 江文晋;重组人生长激素治疗青春期前及青春期特发性矮小症的疗效观察[D];复旦大学;2013年
8 林燕燕;光照改变对金黄地鼠下丘脑—垂体—性腺轴影响的观察[D];复旦大学;2013年
9 李琴;TSHR、NIS在HT合并PTC中的表达及其意义[D];皖南医学院;2014年
10 闫坤丽;Turner综合征儿童染色体核型分布特点及血脂水平分析[D];浙江大学;2015年
，本文编号：2304531
本文链接：https://www.wllwen.com/yixuelunwen/eklw/2304531.html
最近更新
教材专著
