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A Case of Congenital Goiter with Congenital Hypothyroidism due to Organification Defect

Journal of the Korean Pediatric Society 1993;36(7):1002-1008.
Published online July 15, 1993.
A Case of Congenital Goiter with Congenital Hypothyroidism due to Organification Defect
Ik Hee Lee, Sung Yong Jung, Thi Hyung Park, Sa Jun Chung, Chang Il Ahn
Department of Pediatrics, College of Medicine, Kyung Hee University, Seoul, Korea
유기화 장애에 의한 Goiter를 동반한 선천성 갑상선 기능저하증 1례
이익희, 정성룡, 박치형, 정사준, 안창일
경희대학교 의과대학 소아과학교실
Abstract
We experienced a case of congenital goiter with congenital hypothyroidism in 45 dayold male, who complained of respiratory difficulty and anterior neck mass. After admission, he was diagnosed congenital hypothyroidism by the clinical manifestations and laboratory tests including biochemistry, radioimmunoassay, radioisotope study, perchlorate discharge test, and bone radiography. We obtained positive finding at the perchlorate discharge test and found that his congenital goiter with congenital hypothyroidism was manifested by organification defect. We started treatment with L-thyroxine orally at 6 th hospital day. The case was presented with brief review of literatures.
Key Words: Congenital hypothyroidism, Congenital goiter, Organification defect


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