甲状腺激素抵抗综合征诊疗进展
| 作者: |
1孔艳华
1 亳州市人民医院内分泌科，安徽 亳州 236800 |
| 通讯: |
孔艳华
Email: kongyanhua2006@126.com |
| DOI: | 10.3978/j.issn.2095-6959.2016.08.035 |
摘要
甲状腺激素抵抗综合征(thyroid hormone resistance syndrome，RTH)是由甲状腺激素受体基因突变所致甲状腺激素作用的靶组织对甲状腺激素反应低下为特征的常染体显性遗传性疾病。临床表现变化多样，可呈甲亢、甲减或非毒性甲状腺肿，常被误诊从而采取不适当的治疗。减少误诊，关键在于提高对本病的认识。本文就近年来国内外对RTH诊疗新观点进行综述。
关键词：
甲状腺激素抵抗综合征
基因诊断
生长抑素试验
RTHα
Advances in diagnosis and treatment of thyroid hormone resistance syndrome
CorrespondingAuthor: KONG Yanhua Email: kongyanhua2006@126.com
DOI: 10.3978/j.issn.2095-6959.2016.08.035
Abstract
Thyroid hormone resistance syndrome (RTH) is an euchromosome dominant genetic disease, caused by the thyroid hormone receptor gene mutations. It is characterized by decreased responses of the target tissue to thyroid hormone. Its clinical manifestations, including hyperthyroidism, hypothyroidism and nontoxic goiter, are variable; and it is generally misdiagnosed resulting in inappropriate treatment. Increasing the knowledge for the disease is the key to reduce misdiagnosis. In this article, new perspectives on RTH diagnosis and treatment are reviewed.