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聋哑甲状腺肿综合征系先天性甲状腺过氧化酶缺乏使酪氨酸碘化障碍引起的一种罕见疾病,发生癌变的更少见,现报告一例。谢某,男,24岁,先天聋哑。六年前检查甲状腺Ⅰ度大,软,T_3、T_4、~(131)Ⅰ吸收率均正常,未做处理,两年前甲状腺肿大明显,再次检查,甲状腺Ⅱ度大,软,无压痛和结节感,T_3,T_4正常,甲状腺~(131)Ⅰ吸收率:3小时15.1%,6小时22.2%,24小时40.5%,服过氧化酸钾90分钟后,~(131)Ⅰ下降16.5%,T_4 40ng/ml,T_3 1.5ng/ml,血清TSH16ng/ml,抗甲状腺球蛋白抗体阴性,电测听双耳重度神经性耳聋,父母非近亲结婚,兄妹三人正常,诊断为聋哑甲状腺肿综合征.因无甲状腺功能异常表现未行治疗。近
Deaf and dumb goiter syndrome Department of congenital thyroid peroxidase deficiency tyrosine iodide disorders caused by a rare disease, the occurrence of cancer more common, a report is now reported. Xiemou, male, 24 years old, innate deaf and dumb. Six years ago to check thyroid Ⅰ degree, soft, T_3, T_4, ~ (131) Ⅰ absorption rate were normal, without treatment, two years ago, the goiter was obvious, re-examination, thyroid Ⅱ degree, soft, no tenderness and Nodular sensation, T_3 and T_4 were normal, thyroid 131I absorption rate was 15.1% in 3 hours, 22.2% in 6 hours and 40.5% in 24 hours. After 90 minutes potassium peroxydisulfate, 131I decreased by 16.5% , T_4 40ng / ml, T_3 1.5ng / ml, serum TSH16ng / ml, anti-thyroglobulin antibody negative, electrical hearing hearing severe deafness of both ears, non-relatives marrying parents, siblings three normal, diagnosed as deaf-goblet goiter Symptoms due to no performance of thyroid function was not treated. near