Department of Endocrinology and Metabolism, The First Hospital of Lanzhou University, Lanzhou, Gansu 730000, P.R. China.
Mol Med Rep. 2019 Nov;20(5):4683-4687. doi: 10.3892/mmr.2019.10703. Epub 2019 Sep 24.
Thyroid hormone resistance syndrome is a rare disease in which the level of thyroid hormone is elevated and the level of thyroid stimulating hormone is not suppressed. Mutations in the thyroid hormone receptor β (THRβ) gene are thought to be the primary cause of pathogenesis. In the present study, a Chinese boy of 4 years and 8 months, who had been pre‑diagnosed with resistance to thyroid hormone, was assessed for mutations. The clinical features and thyroid function of the proband and his parents were collected and gene mutations were analyzed using DNA sequencing. Gene sequencing showed that the THRβ genes in the parents of the proband were consistent with the standard sequence, however, in the proband there was a mutation in the tenth exon of the THRβ gene (c. 824 T>C). This is a newly identified mutation site and, to the best of our knowledge, there have been no previous reports of this mutation site. Therefore, it is hypothesized that this mutation is the cause of the pathology in the proband.
甲状腺激素抵抗综合征是一种罕见疾病，其特征为甲状腺激素水平升高，而促甲状腺激素水平未被抑制。甲状腺激素受体β（THRβ）基因突变被认为是其主要发病机制。本研究对一名 4 岁 8 个月的中国男孩进行了基因突变检测，该男孩曾被诊断为甲状腺激素抵抗。收集先证者及其父母的临床特征和甲状腺功能，并通过 DNA 测序分析基因突变。基因测序显示，先证者父母的 THRβ 基因与标准序列一致，而先证者的 THRβ 基因第十外显子（c.824T>C）发生了突变。这是一个新发现的突变位点，据我们所知，此前尚无该突变位点的报道。因此，推测该突变是先证者发病的原因。
