López José M, Jiménez Marcela, Campino Carmen
Departamento de Endocrinología, Facultad de Medicina, Pontificia Universidad Católica de Chile.
Rev Med Chil. 2004 Sep;132(9):1096-9.
Thyroid hormone resistance is a rare autosomal dominant disease associated, in more than 90% of cases, to mutations in the beta thyroid hormone receptor. We report a 23 years old male that consulted for a psychiatric condition. Clinically, the patient was euthyroid in spite of high total and free T4 and T3 concentrations, while TSH remained normal. Also, TSH showed a five fold increase under TRH stimulation. The mother and one of his brothers had the same pattern of abnormal serum thyroid hormones. We discuss the diagnostic considerations and the protocol to study this rare pathology.
甲状腺激素抵抗是一种罕见的常染色体显性疾病，在超过90%的病例中与β甲状腺激素受体突变有关。我们报告一名23岁男性因精神疾病前来就诊。临床上，尽管总T4、游离T4和T3浓度升高，但患者甲状腺功能正常，而促甲状腺激素（TSH）仍保持正常。此外，促甲状腺激素释放激素（TRH）刺激后TSH升高了五倍。患者的母亲和他的一个兄弟血清甲状腺激素也有相同的异常模式。我们讨论了诊断注意事项以及研究这种罕见疾病的方案。
