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先天性甲状腺功能减退症的基因基础研究进展 被引量：1

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摘要 先天性甲状腺功能减退症(CH)是小儿常见的内分泌疾病,已经明确,影响甲状腺发生、发育的因素如甲状腺转录因子(TTF)-1、TTF-2、Pax-8的基因异常会导致甲状腺组织发育不良;而在甲状腺激素合成过程中的缺陷,如促甲状腺激素受体、甲状腺球蛋白、钠-碘同向转运体基因突变及碘活化过程障碍可以导致有正常甲状腺组织的甲状腺功能减退症;其他,如促甲状腺激素β基因引起下丘脑和垂体功能的异常及甲状腺激素抵抗综合征也在CH发病中起重要作用。
作者 杨荣旺 赵正言
机构地区 浙江大学医学院附属儿童医院
出处 《国外医学（内分泌学分册）》 2004年第B05期59-62,共4页 Foreign Medical Sciences(Section of Endocrinology)
关键词 先天性甲状腺功能减退症 研究进展 甲状腺发育缺陷 甲状腺激素
分类号 R581 [医药卫生—内分泌]
  • 相关文献

参考文献17

  • 1Bakker B,Bikker H,Vulsma T,et al.Two decades of screening for congenital hypothyroidism in the Netherlands: TPO mutations in total iodide organification defects(an update).J Clin Endocrinol Metab,2000,85,3708-3712.
  • 2Congdon T,Nguyen LQ,Nogueira CR,et al.A novel mutation (Q40P) in PAX8 associated with congenital hypothyroidism and thyroid hypoplasia:evidence for phenotypic variability in mother and child.J Clin Endocrinol Metab,2001,86:3962-3967.
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  • 4Van de Graaf SAR,Cammenga M,Ponne NJ,et al.The screening for mutations in the thyroglobulin cDNA from six patients with congenital hypothyroidism.Biochimie,1999,81,425-432.
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同被引文献9

  • 1Picketing DE, Fisher DA. Therapeutic concepts relating to hypothyroidism in childhood. J Chron Dis, 1968,7:242-263.
  • 2Klein A, Melter S, Kenney MD. Improved prognosis in congenital hypothyroidism treated before age three months. J Pediatr, 1972,8 : 912-915.
  • 3曾畿生,王德芬,主编.现代儿科内分泌学.第一版.上海:上海科学技术文献出版社,2001,189-198.
  • 4Bongers-Shchokking JJ, Koot HM, Wiersma D, et al. Influence of timing and dose of thyroid hormone replacement on development in infants with congenital hypothyroidism. J Pediatr, 2000,136:292-297.
  • 5路福顺.普查中发现的先天性甲状腺功能减低症的智能和运动发育预后[J].国外医学：儿科学分册,1990,:213-213.
  • 6Fisher DA. Clinical review 19: Management of congenital hypothyroidism. J Clin Endocrinol Metab, 1991,72:523-529.
  • 7Heyerdahl S, Kase BF, Lie SO. Intellectual development in children with congenital hypothyroidism in relation to recommended thyroxine treatment. J Pediatr, 1995,118:850-857.
  • 8李晨阳,滕卫平,尚涛.甲状腺激素与妊娠[J].中华内分泌代谢杂志,2003,19(2):158-160. 被引量：72
  • 9苏青,罗敏.甲状腺激素对脑发育的重要影响[J].中华内分泌代谢杂志,2003,19(5):339-340. 被引量：25

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国外医学（内分泌学分册）
2004年 第B05期

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