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Two Siblings of Congenital Hypothyroidsm due to Organification Defect.

Journal of the Korean Pediatric Society 1989;32(4):582-588.
Published online April 30, 1989.
Two Siblings of Congenital Hypothyroidsm due to Organification Defect.
Young Kie Park, Kwang Sun Park, Byung Churl Lee
Department of Pediatrics, Catholic University Medical College, Seoul, Korea
자매에서 발생한 유기화장애에 의한 선천성 갑상선기능저하증
박영기, 박광선, 이병철
가톨릭의과대학 소아과학교실
Received: 2 August 1988   • Accepted: 2 November 1988
Abstract
Congenital hypothyroidism due to a variety of defects in the biosynthesis of thyroid hormone is detected in 1/30,000-50,000 live births. 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 siblings who had short stature, goiter, mental retardation, constipation and other manifestation of hypothyroidism. Diagnosis was made by goiter, typical clinical manifestation and thyriod function test and positive response to perchlorate discharge test. The review of Iiteratures was made briefly.
Key Words: Congenital hypothyroidism, Organification defect, Perchlorate discharge test


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