School of Medicine, Institute of Interdisciplinary Research (IRIBHM), Free University of Brussels, Campus Erasme, Route de Lennik 808, B-1070 Brussels, Belgium.
Eur J Endocrinol. 2011 Jan;164(1):1-9. doi: 10.1530/EJE-10-0775. Epub 2010 Oct 6.
Three syndromes affecting the thyroid gland are described in the literature separately: familial nonautoimmune hyperthyroidism, sporadic congenital nonautoimmune hyperthyroidism, and autonomous adenomas. Recent studies have shown that these three syndromes are caused by similar activating mutations of the TSH receptor gene (TSHR), and that the consequences of these mutations on the physiology and gene expression of the thyroid are qualitatively, but not quantitatively, similar. The three syndromes and two suggested unrecognized variants are in fact facets of the same disease, genetic hyperthyroidism due to TSHR mutations, the expression of which depends on the intensity of activation, its timing, and on the number of affected cells.
家族性非自身免疫性甲状腺功能亢进症、散发性先天性非自身免疫性甲状腺功能亢进症和自主性腺瘤。最近的研究表明，这三种综合征是由 TSH 受体基因（TSHR）的相似激活突变引起的，这些突变对甲状腺的生理学和基因表达的影响在性质上是相似的，但在数量上是不同的。这三种综合征和两种被认为是未被识别的变异实际上是同一种疾病的不同表现形式，即 TSHR 突变引起的遗传性甲状腺功能亢进症，其表达取决于激活的强度、时间和受影响细胞的数量。
