| Two Siblings of Congenital Hypothyroidsm due to Organification Defect. |
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Young Kie Park, Kwang Sun Park, Byung Churl Lee |
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Department of Pediatrics, Catholic University Medical College, Seoul, Korea |
| 자매에서 발생한 유기화장애에 의한
선천성 갑상선기능저하증 |
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박영기, 박광선, 이병철 |
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가톨릭의과대학 소아과학교실 |
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Received: 2 August 1988 • Accepted: 2 November 1988 |
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| Abstract |
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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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