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甲状腺激素抵抗

Resistance to thyroid hormone.

作者信息

Refetoff S

机构信息

Department of Medicine, University of Chicago, Illinois.

出版信息

Clin Lab Med. 1993 Sep;13(3):563-81.

PMID:8222575
Abstract

Resistance to thyroid hormone encompasses a clinically heterogeneous group of conditions characterized by reduced responses of target tissues to a supply of thyroid hormone that under normal circumstances would be excessive. The syndrome of resistance to thyroid hormone is first suspected when serum thyroid hormone levels are found to be elevated in the presence of nonsuppressed serum thyrotropin (TSH). Clinical confirmation of the diagnosis requires the demonstration of the failure of full replacement doses of thyroid hormone to produce the expected suppressive effect on the secretion of TSH and a failure to induce appropriate responses in peripheral tissues.

摘要

甲状腺激素抵抗包括一组临床异质性疾病,其特征是在正常情况下过量的甲状腺激素供应下,靶组织的反应降低。当在未被抑制的血清促甲状腺激素(TSH)存在的情况下发现血清甲状腺激素水平升高时,首先怀疑甲状腺激素抵抗综合征。该诊断的临床确认需要证明全量替代剂量的甲状腺激素未能对TSH分泌产生预期的抑制作用,以及未能在外周组织中诱导适当的反应。

相似文献

1
Resistance to thyroid hormone.甲状腺激素抵抗
Clin Lab Med. 1993 Sep;13(3):563-81.
2
The syndromes of resistance to thyroid hormone.甲状腺激素抵抗综合征
Endocr Rev. 1993 Jun;14(3):348-99. doi: 10.1210/edrv-14-3-348.
3
An identical neo-mutation in the thyroid hormone receptor beta gene (A317T) in 2 unrelated Thai families with resistance to thyroid hormone.在2个不相关的对甲状腺激素有抵抗性的泰国家庭中,甲状腺激素受体β基因存在相同的新突变(A317T)。
J Med Assoc Thai. 2000 Feb;83(2):139-45.
4
Differential expression of mutant and normal beta T3 receptor alleles in kindreds with generalized resistance to thyroid hormone.甲状腺激素全身性抵抗家系中突变型和正常β-T3受体等位基因的差异表达
J Clin Invest. 1993 May;91(5):2296-300. doi: 10.1172/JCI116458.
5
Three new mutations of thyroid hormone receptor-beta associated with resistance to thyroid hormone.三种与甲状腺激素抵抗相关的甲状腺激素受体-β新突变。
J Clin Endocrinol Metab. 1994 Jul;79(1):323-6. doi: 10.1210/jcem.79.1.7913092.
6
A novel mutation (M310L) in the thyroid hormone receptor beta causing resistance to thyroid hormone in a Brazilian kindred and a neonate.甲状腺激素受体β的一种新型突变(M310L)在一个巴西家族和一名新生儿中导致甲状腺激素抵抗。
Mol Genet Metab. 2000 Nov;71(3):520-6. doi: 10.1006/mgme.2000.3088.
7
A novel mutation (E333D) in the thyroid hormone beta receptor causing resistance to thyroid hormone syndrome.甲状腺激素β受体中的一种新型突变(E333D)导致甲状腺激素抵抗综合征。
Exp Clin Endocrinol Diabetes. 2006 Nov;114(10):569-76. doi: 10.1055/s-2006-956169.
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A novel 1297-1304delGCCTGCCA mutation in the exon 10 of the thyroid hormone receptor beta gene causes resistance to thyroid hormone.甲状腺激素受体β基因第10外显子上一个新的1297 - 1304delGCCTGCCA突变导致甲状腺激素抵抗。
Mol Diagn. 2004;8(3):163-9.
9
Genetic analysis of 29 kindreds with generalized and pituitary resistance to thyroid hormone. Identification of thirteen novel mutations in the thyroid hormone receptor beta gene.对29个患有全身性和垂体性甲状腺激素抵抗的家族进行的基因分析。甲状腺激素受体β基因中13个新突变的鉴定。
J Clin Invest. 1994 Aug;94(2):506-15. doi: 10.1172/JCI117362.
10
[Syndrome of resistance to thyroid hormones].[甲状腺激素抵抗综合征]
Presse Med. 1993 Nov 27;22(37):1870-5.

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Clinical outcome and evidence of high rate post-surgical anterior hypopituitarism in a cohort of TSH-secreting adenoma patients: Might somatostatin analogs have a role as first-line therapy?
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Oncogene. 2009 Nov 26;28(47):4162-74. doi: 10.1038/onc.2009.265. Epub 2009 Sep 14.
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Thyroid hormone receptor mutations found in renal clear cell carcinomas alter corepressor release and reveal helix 12 as key determinant of corepressor specificity.在肾透明细胞癌中发现的甲状腺激素受体突变会改变共抑制因子的释放,并揭示螺旋12是共抑制因子特异性的关键决定因素。
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Thyroid hormone receptors mutated in liver cancer function as distorted antimorphs.在肝癌中发生突变的甲状腺激素受体作为畸变的反式作用因子发挥作用。
Oncogene. 2006 Jun 15;25(25):3576-88. doi: 10.1038/sj.onc.1209389. Epub 2006 Jan 23.
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Multiple mutations contribute to repression by the v-Erb A oncoprotein.多种突变导致v-Erb A癌蛋白发挥抑制作用。
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Genetic dissection of thyroid hormone receptor beta: identification of mutations that separate hormone binding and transcriptional activation.甲状腺激素受体β的遗传学剖析:分离激素结合与转录激活的突变的鉴定
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