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Turner综合征的临床实验综合研究(英文) 被引量：3

The Clinical Analysis of Turner Syndrome
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摘要 目的研究Turner综合征的终身高、生长激素水平、学历和性发育的变化。方法239例Turner综合征进行染色体检查,68例行生长激素激发试验,45例随访学历和性发育的情况。结果染色体核型分4组,第1组45,X,95例;第2组嵌合型64例;第3组X染色体结构畸变74例;第4组伴有Y染色体6例。终身高139.2±8.3?。生长激素完全缺乏18例,部分缺乏34例,正常16例。随访45例中,学历大部分在初中、技校和中专19例有不同程度的性发育,26例无性发育。结论Turner征患者终身高明显低于正常人群,生长激素分泌低下,学习能力降低,性发育不全。 Objective： To research change the terminal height , the level of growth hormone, sexual development and record of formal schooling in Turner syndrome （TS）. Methods： Karyotyping, growth hormone provocation tests, follow - up observations of schooling record and sexual development were studied. Results： 239 TS were karyotyped in 4 groups ： Ⅰ, 45, X, 95 ;Ⅱ, mosaicism , 64; Ⅲ, with various, aberrations of structure of X chromosome, 74; Ⅳ, with Y chromosome, 6. Terminal heights were 139.2 ± 8. 3cm, 68 growth hormone tests, Growth hormone deficiency 18, part of deficiency 34 and normal 16. In the follow - up survey of 45 TS, record of formal schooling were mainly junior middle school, skill school and special school. 19 had various of degree sexual development and 26 had no. Conclusion： The terminal heights of TS were marked lower than normal, Growth hormone was deficiency, learning ability decline, hypoplasia of sex gland.
作者 江静 王伟 傅曼芬 陈凤生 王德芬
机构地区 上海第二医科大学瑞金医院儿内科
出处 《中国优生与遗传杂志》 2006年第3期16-19,共4页 Chinese Journal of Birth Health & Heredity
关键词 TURNER综合征 终身高 生长激素 学历 性发育 TS Terminal height Growth hormone Diploma Sexual development
分类号 R596 [医药卫生—内科学]
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参考文献10

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同被引文献26

  • 1陈东晓,陈懿青,陈慎仁.特纳综合征30例核型及临床分析[J].中国实用内科杂志,2005,25(6):518-519. 被引量：11
  • 2江静,王伟,邱定众,毛仲英,董治亚,倪继红,陈凤生,王德芬.生长激素对Turner综合征的促身高作用[J].中国优生与遗传杂志,2006,14(2):28-29. 被引量：7
  • 3宫剑,熊文栋,杨少燕,陈小芳,曹淑燕.Turner综合征的核型、临床表现与性激素的分析[J].中国优生与遗传杂志,2007,15(3):44-45. 被引量：13
  • 4陈朝晖,唐剑,汤参娥,等.125例Turner综合征核型和自然身高分析[J].湖南医科大学学抿2002,27(4):364-5.
  • 5Nishi MY, Costa EM, Oliveira SB, et al. The role of SRY mutations in the etiology of gonadal dysgenesis in patients with 45,X/46,XY disorder of sex development and variants [J]. Horm Res Paediatr, 2011, 75(1): 26-31.
  • 6Alvarez-Nava F, Puerta H, Soto M, et al. High incidence of Y-chromosome microdeletions in gonadal tissues from patients with45,X/46,XY gonadal dysgenesis [J]. Fertil Steril, 2008, 89(2): 458-60.
  • 7Marshall I, Betensky BP, Goseco A, et al. Fragile X and Mosaic 45, X/46,XY mixed gonadal dysgenesis in a girl with ambiguous genitalia[J]. Am J Med Genet A, 2004, 124A(2): 213-5.
  • 8Papanikolaou AD, Goulis DG, Giannouli C, et al. Intratubular germ cell neoplasia in a man with ambiguous genitalia, 45,X/46,XY Mosaic karyotype, and Y chromosome microdeletions [J]. Endocr Pathol, 2003, 14(2): 177-82.
  • 9Da CN. 45,X/46,XY mosaicism:report of 27 cases [J]. J Urology, 2000: 256.
  • 10Layman LC, Tho SP, Clark AD, et al. Phenotypic spectrum of 45,X/ 46,XY males with a ring Y chromosome and bilaterally descended testes[J]. Fertil Steril, 2009, 91(3): 791-7.

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二级引证文献22

中国优生与遗传杂志
2006年 第3期

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