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本文报告了3例家族性甲状腺肿呆小病(克汀病)。我们对3例患者作了甲状腺吸(131)~I率、过氯酸钾释放试验、血清总T_4真和PBI等甲状腺功能检查。结果发现2例患者的甲状腺吸(131)~I率增高,过氯酸钾释放试验阳性,血清总T_4浓度及PBI均明显低于正常。患者均有甲状腺肿大和典型甲状腺功能低下表现,其中一例患者的父母系姨表亲近亲结婚。根据实验室诊断、临床表现及家族史,确诊为家族性甲状腺肿呆小病(克汀病),其甲状腺的有机合成障碍环节在碘的氢化缺陷。
This article reports three cases of familial goiter with cretinism (cretinism). We conducted thyroid suction (131) ~ I rate, potassium perchlorate release test, serum T 4 true and PBI and other thyroid function tests on 3 patients. The results showed that thyroid suction (131) ~ I increased in 2 patients, positive in the potassium chlorate release test, serum total T 4 concentration and PBI were significantly lower than normal. Patients had goiter and typical hypothyroidism, in which one patient’s parents were aunt cousins married. According to laboratory diagnosis, clinical manifestations and family history, diagnosed as familial thyroid neoplastic ailments (cretinism), the organic synthesis of the thyroid gland disorders in hydrogen iodide defects.