Endocrinology and Nutrition Department, Hospital Clίnic i Universitari, Barcelona, Spain.
Endocrinology and Nutrition Department, Hospital General Universitario, Alicante, Spain.
Hormones (Athens). 2014 Jan-Mar;13(1):74-8. doi: 10.1007/BF03401322.
The aim of the study was to describe the clinical, biochemical, and genetic features of a sample of Mediterranean patients with RTH (resistance to thyroid hormone) due to mutations in TRβ (thyroid hormone receptor beta) referred to our institution during the last 15 years.
166 blood samples were received for RTH genetic testing between January 1997 and December 2011. Genetic testing was performed by PCR amplification followed by sequencing of exons 7, 8, 9, and 10. Clinical and biochemical features were obtained from available information sent by referring hospitals.
Mutations were identified in 50 patients (29 probands and 21 relatives). 64% were women, and mean ± stdev age at diagnosis among probands was 33.2 ± 20.5 years. The following clinical features were recorded: goiter in 50%, hyperkinetic behavior in 32%, and tachycardia in 29%. Up to 19% of the probands had undergone some type of thyroidal ablative therapy before diagnosis. As for biochemical features, mean ± stdev TSH was 10.2 ± 21.4 mUI/L, and mean ± stdev fT4 was 35.5 ± 10.8 pmol/L. We found four new mutations: p.Phe451Leu, p.Pro452Arg, p.Glu457Gly, and p.Phe459Leu.
The clinical and biochemical characteristics of our samples of Mediterranean populations with RTH were similar to those described in the published literature. Interestingly, in our populations we have identified four novel mutations in the TRβ gene.
本研究旨在描述过去 15 年期间，由于甲状腺激素受体β（TRβ）突变导致对甲状腺激素抵抗（RTH）的地中海患者的临床、生化和遗传特征。
1997 年 1 月至 2011 年 12 月期间，我们医院共收到 166 份进行 RTH 基因检测的血样。基因检测采用 PCR 扩增，然后对第 7、8、9 和 10 外显子进行测序。临床和生化特征从转介医院提供的可用信息中获得。
在 50 名患者（29 名先证者和 21 名亲属）中发现了突变。64%为女性，先证者诊断时的平均年龄为 33.2 ± 20.5 岁。记录了以下临床特征：甲状腺肿占 50%，多动行为占 32%，心动过速占 29%。在诊断前，多达 19%的先证者曾接受过某种类型的甲状腺消融治疗。就生化特征而言，平均 TSH 为 10.2 ± 21.4 mUI/L，平均 fT4 为 35.5 ± 10.8 pmol/L。我们发现了四个新的突变：p.Phe451Leu、p.Pro452Arg、p.Glu457Gly 和 p.Phe459Leu。
我们的地中海 RTH 患者样本的临床和生化特征与已发表文献中的描述相似。有趣的是，在我们的人群中，我们在 TRβ 基因中发现了四个新的突变。
