Department of Paediatric Surgery and Intensive Care, University Medical Centre Ljubljana, Bohoričeva 20, 1000 Ljubljana, Slovenia.
Department of Endocrinology, Diabetes and Metabolic Diseases, University Children's Hospital, University Medical Centre Ljubljana, Bohoričeva 20, 1000 Ljubljana, Slovenia.
Medicina (Kaunas). 2020 Dec 15;56(12):699. doi: 10.3390/medicina56120699.
Resistance to thyroid hormone beta (RTHβ) is a syndrome characterized by a reduced response of target tissues to thyroid hormones. In 85% of cases, a pathogenic mutation in the thyroid hormone receptor beta () gene is found. The clinical picture of RTHβ is very diverse; the most common findings are goiter and tachycardia, but the patients might be clinically euthyroid. The laboratory findings are almost pathognomonic with elevated free thyroxin (fT4) levels and high or normal thyrotropin (TSH) levels; free triiodothyronin (fT3) levels may also be elevated. We present three siblings with mutation (heterozygous disease-variant c.727C>T, p.Arg243Trp); two of them also had hypercholesterolemia, while all three had several other clinical characteristics of RTHβ. This is the first description of the known Slovenian cases with RTHβ due to the pathogenic mutation in the gene. Hypercholesterolemia might be etiologically related with RTHβ, since the severity of hormonal resistance varies among different tissues and hypercholesterolemia in patients with variants might indicate the relatively hypothyroid state of the liver. We suggest that cholesterol levels are measured in all RTHβ patients.
抗甲状腺激素β（RTHβ）是一种以靶组织对甲状腺激素反应降低为特征的综合征。在 85%的病例中，发现甲状腺激素受体β（）基因突变。RTHβ 的临床表现非常多样化；最常见的发现是甲状腺肿和心动过速，但患者可能在临床上甲状腺功能正常。实验室检查几乎具有特征性，游离甲状腺素（fT4）水平升高，促甲状腺素（TSH）水平升高或正常；游离三碘甲状腺原氨酸（fT3）水平也可能升高。我们介绍了三个患有突变（杂合疾病变异 c.727C>T，p.Arg243Trp）的兄弟姐妹；其中两人还伴有高胆固醇血症，而三人都有 RTHβ 的其他几个临床特征。这是首次描述已知的斯洛文尼亚 RTHβ 病例，这些病例是由于基因中的致病突变所致。高胆固醇血症可能与 RTHβ 有病因学上的关系，因为不同组织之间的激素抵抗程度不同，而携带 变异的患者的高胆固醇血症可能表明肝脏处于相对甲状腺功能低下的状态。我们建议在所有 RTHβ 患者中测量胆固醇水平。
