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本文报告六个家族中6例先天性甲状腺激素合成缺陷引起的甲状腺功能低下。经放射性核素等测定.2例证实为碘化酪氨酸合成缺陷,2例可能为碘化酪氨酸偶联障碍;2例可能为脱碘酶缺陷或甲状腺分泌异常的碘化蛋白.文中就甲状腺激素合成缺陷机制、临床特征、诊断和鉴别诊断等进行讨论.
This article reports the hypothyroidism caused by 6 congenital thyroid hormone synthesis defects in 6 families. 2 cases were confirmed as iodotyrosine synthesis defects, 2 cases may be iodinated tyrosine coupling disorders; 2 cases may be deiodinase deficiency or abnormal thyroid secretion of iodinated protein.In this paper Thyroid hormone synthesis defect mechanism, clinical features, diagnosis and differential diagnosis are discussed.