A case of congenital goiter with congenital hypothyroidism due to organification defect.
- Author:
Ik Hee LEE
;
Sung Yong JUNG
;
Thi Hyung PARK
;
Sa Jun CHUNG
;
Chang Il AHN
- Publication Type:Original Article
- Keywords:
Congenital hypothyroidism;
Congenital goiter;
Organification defect
- MeSH:
Biochemistry;
Congenital Hypothyroidism*;
Goiter*;
Humans;
Male;
Neck;
Radiography;
Radioimmunoassay;
Thyroxine
- From:Journal of the Korean Pediatric Society
1993;36(7):1002-1008
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
We experienced a case of congenital goiter with congenital hypothyroidism in 45 day-old 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 6th hospital day. The case was presented with brief review of literatures.
