All issues > Volume 36(7); 1993

Case Report

J Korean Pediatr Soc. 1993;36(7):1002-1008. Published online July 15, 1993.

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

Ik Hee IH Lee¹, Sung Yong SY Jung¹, Thi Hyung TH Park¹, Sa Jun SJ Chung¹, Chang Il CI Ahn¹

¹Department of Pediatrics, College of Medicine, Kyung Hee University, Seoul, Korea

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.

Keywords :Congenital hypothyroidism, Congenital goiter, Organification defect