ABSTRACT
@EN Congenital hypothyroidism due to a variety of defects in the biosynthesis of thyroid hormone is detected in 1/4,000 live births. The causes of congenital hypothyroidism in children are thyroid dysgenesis, inborn error of synthesis,
hypothalamic-pituitary-thyroid axis abnormalities, iodide deficiency, transplacental passage of antithyroid drugs and peripheral resistance to thyroid hormone.
In the iodide organification defect which is one of defect in the biosynthesis of thyroid hormone, iodide is not organified and may be rapidly discharged from the thyroid by administration of perchlorate.
We experienced two case of goitrous hypothyroidism due to organization defect in sisters, 4-year-old and 7-year-old girls. Diagnosis was made by thyroid function test, radioisotope study and positive response to perchlorate discharge test.
We report these cases with a biref review of related literatures. (J Kor Soc Endocrinol 8:445~450, 1993)
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