Pathology of the TSH receptor.
Pathology of the TSH receptor.
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TSH 受体的病理学。
DOI：
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发表时间：
1999
期刊：
影响因子：
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通讯作者：
Gilbert Vassart
中科院分区：
文献类型：
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作者：
L. Duprez;J. Parma;J. Sande;Patrice Rodien;C. Sabine;Marc Abramowicz;J. E. Dumont;Gilbert Vassart
TSH 受体的功能获得和功能丧失突变与各种甲状腺疾病的发病机制有关。功能获得突变（体细胞突变）是自主结节的首要原因；当生殖系时，它们会导致遗传性非自身免疫性毒性甲状腺增生和一些散发性先天性甲状腺功能亢进症。最近发现改变受体选择性的突变子集与家族性妊娠甲状腺功能亢进症的发病机制有关。这些突变对于理解受体激活机制非常有意义。 TSH 受体功能丧失突变导致不同的表型，从无症状的 TSH 耐药到明显的先天性甲状腺功能减退症。
Gain of function and loss of function mutations of the TSH receptor have been implicated in the pathogenesis of various thyroid diseases. Gain of function mutations, when somatic, are the first cause of autonomous nodules; when germline, they are responsible for hereditary non-autoimmune toxic thyroid hyperplasia and for some cases of sporadic congenital hyperthyroidism. A subset of mutations modifying the receptor selectivity have recently been found to be involved in the pathogenesis of familial gestational hyperthyroidism. These mutations are of great interest for understanding the mechanism of receptor activation. Loss of function mutations of the TSH receptor are responsible for different phenotypes ranging from asymptomatic resistance to TSH to overt congenital hypothyroidism.