兒童期特納綜合征的細胞遺傳學及臨床研究
發(fā)布時間：2018-11-01 16:58
【摘要】：目的：1.探討特納綜合征(Turner Syndrome, TS)患兒染色體核型與臨床表型之間的關系。2.探討TS患兒正常X染色體來源對于臨床表型的影響。方法：1.將2005年2月至2014年12月期間就診于中日友好醫(yī)院小兒內分泌專病門診、北京協和醫(yī)院內分泌科、上海新華醫(yī)院兒童內分泌科、北京大學第三醫(yī)院兒科診斷明確的71例特納綜合征患兒作為研究對象,根據染色體核型分析結果分為45XO組與其他核型組(包括等臂染色體、嵌合型、環(huán)型、Y染色體、Xp缺失、Xq缺失、Mar染色體及其他)兩組,對兩組患兒的所有臨床資料進行回顧性分析。2.選取染色體核型為45XO、46Xdel(Xp)、46Xi(xq)的總計26例TS患兒作為研究對象,利用位于X染色體短臂2區(qū)1帶2亞帶(Xp21.2)的DMD基因的短串聯重復序列(STR)鑒別患兒正常X染色體的來源,并分為來源于母親的Xm組與來源于父親的Xp組,分析其對于臨床表型的影響。結果：1.71例患兒中,45XO組29例,其他核型組42例。身材矮小在45XO組中更常見,占29例(100%),而其他核型組中分別占35例(83.3%),且兩組之間有統(tǒng)計學意義(P0.05)；其他臨床表型如甲減、肥胖、糖耐量異�；蛱悄虿 ⑿难墚惓�、腎臟異常、GH缺乏等在45XO組與其他核型組之間沒有統(tǒng)計學意義(P0.05)。2.26例研究對象中Xm組患兒21例(80.8%),平均年齡為(8.6±4.5)歲,中位數為9.0歲,Xp組患兒5例(19.2%),平均年齡為(10.2±4.8)歲,中位數為10.3歲,兩組之間的年齡無統(tǒng)計學意義(P為0.73)。TS的各種器官畸形及功能障礙(心血管異常、腎臟異常、糖耐量異�；蛘咛悄虿 H缺乏)、性激素水平(FSH、LH、E2)在Xm、Xp兩組之間無明顯統(tǒng)計學意義(P0.05)。低密度脂蛋白、高密度脂蛋白及總膽固醇在兩組之間的水平沒有統(tǒng)計學意義(P0.05),但是甘油三酯在Xp組中明顯高于Xm組,且存在統(tǒng)計學意義(P值0.00)。生長激素治療前Xm組的身高為(-2.2±0.6)SDS,遺傳身高(MPH)為(-0.2±0.7)SDS,骨齡延遲(0.7±1.0)年,Xp組的身高為(-2.6±0.5) SDS, MPH為(0.5±1.0)SDS,骨齡延遲(1.6±1.2)年,兩組之間無統(tǒng)計學意義(P0.05)。兩組患兒的身高與父親身高、母親身高均沒有明顯的關系(P0.05)。兩組患兒治療時生長激素的用量基本一致(P為0.23).Xm組患兒及Xp組患兒在這1年的治療過程中相對于實際年齡增長的身高分別為(0.4±0.7) SDS、(0.5±0.6) SDS, P值為0.52,兩組間差異無統(tǒng)計學意義；相對于骨齡身高增長為(0.2±0.4) SDS、 (0.3±0.3) SDS,P值為0.74,兩組間差異無統(tǒng)計學意義。結論：1.該研究證實了染色體核型與身材矮小、頸蹼、甲減之間確實存在一定相關性,但是臨床表現不能替代染色體核型分析,因此還需完善染色體核型分析以明確診斷。2.該研究并沒有發(fā)現X染色體來源對于體表特征、各種器官畸形或功能障礙、生長激素治療反應、卵巢功能的影響,但是我們發(fā)現X染色體來源對于甘油三酯的水平有一定的影響,而具體的影響機制有待于進一步的研究。
[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 鹵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 鹵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 鹵0.6) SDS, genetic height (MPH) was (-0.2 鹵0.7) SDS, bone age delay (0.7 鹵1.0) years, and that of Xp group was (-2.6 鹵0.5) SDS,. MPH was (0.5 鹵1.0) SDS, bone age delay (1.6 鹵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 鹵0. 7) SDS, in comparison with the actual age in the course of 1 year treatment. (0. 5 鹵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 鹵0.4) SDS, (鹵0.3 鹵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.
【學位授予單位】：北京中醫(yī)藥大學
【學位級別】：碩士
【學位授予年份】：2015
【分類號】：R725.9
本文編號：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 鹵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 鹵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 鹵0.6) SDS, genetic height (MPH) was (-0.2 鹵0.7) SDS, bone age delay (0.7 鹵1.0) years, and that of Xp group was (-2.6 鹵0.5) SDS,. MPH was (0.5 鹵1.0) SDS, bone age delay (1.6 鹵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 鹵0. 7) SDS, in comparison with the actual age in the course of 1 year treatment. (0. 5 鹵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 鹵0.4) SDS, (鹵0.3 鹵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.
【學位授予單位】：北京中醫(yī)藥大學
【學位級別】：碩士
【學位授予年份】：2015
【分類號】：R725.9
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