【摘要】 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.更多还原

【Abstract】 Six cases of hypothyroidism caused by congenital defect in organic synthesis of thyroxine were reported,in 3 the symptoms and signs of hypothyroidism appeared inthe neonatal period,2 in childhood and 1 during puberty.The parents of 2 cases wereclose relatives.4 of the 6 cases had enlarged thyroid.The thyroid ¹³¹I uptake was ele-vated in 5 of these 6 cases and 2 of the 5 had anterior shifting of the peak time.All6 cases showed subnormal serum total T₄ and 4 showed subnormal serum PBI.In 2cases the potassium perchlorate test was positive,with release rate of 30.1% and31.2%,respectively.The defect was in the synthesis of iodinated thyroxine.Another 2cases were due to lack of deiodinizing enzyme or secretion of abnormal iodinated pro-tein by thyroid.The remaining 2 cases with subnormal serum PBI might be caused bya defect in coupling of iodinated thyroxine.更多还原