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原发性卵巢功能不全的临床与实验研究

Clinical and laboratory studies of Turner syndrome
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摘要 目的 探讨原发性卵巢功能不全 (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  144例Turner综合征进行了染色体检查 ,33例生长激素激发试验 ,35例随访了学历和性发育。结果 染色体核型分 4组 ,第 1组 45 ,X ,44例 ;第 2组嵌合型 48例 ;第 3组X染色体结构畸变 46例 ;第 4组伴有Y染色体 6例。终身高 139± 8.3cm ,生长激素完全缺乏 11例 ,部分缺乏 17例 ,正常 5例。随访 35例中 ,学历大部分在初中、技校和中专。 17例有不同程度的性发育 ,18例无性发育。结论 Turner综合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 study the height of terminal growth, results of growth hormone provocative test, sexual development and formal schooling record of patients with Turner syndrome(TS). Methods Karyotyping, growth hormone provocation test, follow up observations of schooling record and sexual development were studied. Results The karyotypes of 144 cases of TS could be divided into 4 groups: Ⅰ,45,X,44 cases; Ⅱ,mosaicism, 48 cases; Ⅲ, with aberation of X chromosome structure, 44 cases; Ⅳ,with Y chromosome, 4 cases. The terminal heights were 139±8.3 cm, complete absence of growth hormone in 11, partial deficiency in 17 and normal in 5. Followed up study of 35 cases of TS, formal schooling record showed most of them were studied in junior middle school or technic and skill school. 17 had varying degree of sexual development and 18 deficient sexual development.Conclusion The terminal heights of TS were markedly lower than those of normal, also with deficient growth hormone, learning disorder, and hypoplasia of sex glands. (Shanghai Med J, 2000,23∶677 679)
出处 《上海医学》 CAS CSCD 北大核心 2000年第11期677-679,共3页 Shanghai Medical Journal
关键词 原发性卵巢功能不全 终身高 生长激素 性发育 Turner syndrome Terminal height Growth hormone Record of formal schooling Sexual development
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参考文献5

  • 1[1]Lespinass J, Gicquel C, Robert M, et al. Phenotypic and genotypic variability in monozygotic triplets with Turner syndrome. Clin Genet, 1998,54:56-59.
  • 2[2]Jalal SM, Dahl R, Erickson L, et al. Cytogenetic and clinicalcharacteristics of a case involving complete duplication of X pter→Xq13. J Med Genet, 1996,33:237-239.
  • 3[3]Hasegawa T, Ogata T, Hasegawa Y, et al. Coarctation of the aorta and renal hypoplasia in a boy with Turner/Noonan surface anomalies and a 46,XY karyotype: a clinical model for the possible impairment of a putative lymphogenic gene(s) for Turner Somatic Stigmata. Hum Genet, 1996,97:564-567.
  • 4[4]Larsen T, Gravholt CH, Tillebeck A, et al. Parental origin of the X chromosome, X chromosome mosaicism and screening for “hidden” Y chromosome in 45, X Turner syndrome ascertained cytogenetically. Clin Genet, 1995,48:6-11.
  • 5[5]Ranke MB, Pfiuger H, Rosendahl W, et al. Turner syndrome:spontaneous growth in 150 cases and review of the literature. Eur J Pediatr, 1983,141:81-88.

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