Thyroid hormone resistance without mutations in thyroid hormone receptor beta.
Thyroid hormone resistance without mutations in thyroid hormone receptor beta.
复制标题
甲状腺激素抵抗，但甲状腺激素受体β没有突变。
DOI：
10.12659/msm.484143
复制
发表时间：
2007
期刊：
影响因子：
--
通讯作者：
C. Koch
中科院分区：
文献类型：
--
作者：
Y. Bottcher;Thomas Paufler;T. Stehr;F. Bertschat;R. Paschke;C. Koch
BACKGROUND
Resistance to thyroid hormone (RTH) is a rare autosomal dominant disorder that leads to elevated free thyroid hormone levels in the presence of normal or increased serum thyroid-stimulating hormone (TSH) concentrations if it is generalized because both the pituitary and peripheral tissues are then partially resistant. In approximately 85% of patients with RTH, mutations in the thyroid hormone receptor beta (TR beta) gene can be identified.
CASE REPORT
A 68-year-old German man presented for surgical hernia repair. He was found to have elevated free T3 and T4 plasma concentrations in coexistence with goiter, unsuppressed TSH, arterial hypertension, and arthritis urica/gout. An electrocardiogram showed a normal sinus rhythm with 69 beats per minute. There were neither signs or symptoms of hyper- or hypothyroidism nor psychological abnormalities. Generalized RTH was suspected.
CONCLUSIONS
Generalized RTH should be considered in patients presenting with elevated free thyroid hormone levels and normal or increased TSH concentrations, especially if these patients appear clinically euthyroid. Signs and symptoms of hyper- and hypothyroidism should be evaluated to assure that these patients are candidates for surgical procedures such as hernia repair. Subsequent mutation analysis of the TR beta gene should be conducted to help identify family members. In approximately 15% of patients, mutations in the TR beta gene cannot be identified and raise the possibility of mosaicism.
