Aguilar Diosdado M, Escobar-Jimenez L, Fernandez Soto M L, Garcia Curiel A, Escobar-Jimenez F
Endocrine Unit, General Hospital, Gádiz, Spain.
J Endocrinol Invest. 1991 Sep;14(8):663-8. doi: 10.1007/BF03347890.
We herein describe a family with thyroid hormone resistance. Thyroid hormones and basal TSH were elevated. Pituitary tumor or abnormality in thyroid hormone binding proteins were ruled out by appropriate tests. Mother and sister of the propositus presented similar abnormal hormonal features but no hyperthyroidism. Initially the patient was treated with carbimazole (30 mg/day): three months later a dramatic increase in the size of the thyroid gland and in TSH levels (12.5 to 28 mU/l) were noted. Thereafter, dextrothyroxine (D-T4) and 3, 5, 3'-triiodothyroacetic acid (TRIAC) were given consecutively and treatment was accompanied by a decrease of TSH levels (2 mU/l) but thyroid hormone remained elevated. The symptoms and signs of hyperthyroidism improved with the addition of propranolol (30-60 mg/day). In conclusion, the present report describes a new family with the syndrome of THR and variable degrees of involvement among relatives. We suggest the usefulness of TRIAC therapy to decrease TSH levels and propranolol to improve thyrotoxicosis due to pituitary resistance to thyroid hormone.
我们在此描述一个患有甲状腺激素抵抗的家族。甲状腺激素和基础促甲状腺激素（TSH）升高。通过适当检查排除了垂体肿瘤或甲状腺激素结合蛋白异常。先证者的母亲和姐姐表现出类似的激素异常特征，但无甲状腺功能亢进。最初患者接受卡比马唑治疗（30毫克/天）：三个月后，甲状腺肿大和TSH水平显著升高（从12.5升至28毫国际单位/升）。此后，先后给予右旋甲状腺素（D-T4）和3,5,3'-三碘甲状腺乙酸（TRIAC），治疗过程中TSH水平下降（至2毫国际单位/升），但甲状腺激素仍升高。加用普萘洛尔（30 - 60毫克/天）后，甲状腺功能亢进的症状和体征有所改善。总之，本报告描述了一个新的甲状腺激素抵抗综合征家族，亲属中有不同程度的受累情况。我们认为TRIAC疗法有助于降低TSH水平，普萘洛尔有助于改善因垂体对甲状腺激素抵抗所致的甲状腺毒症。
