All issues > Volume 32(4); 1989

Original Article

J Korean Pediatr Soc. 1989;32(4):582-588. Published online April 30, 1989.

Two Siblings of Congenital Hypothyroidsm due to Organification Defect.

Young Kie Park¹, Kwang Sun Park¹, Byung Churl Lee¹

¹Department of Pediatrics, Catholic University Medical College, Seoul, Korea

Received: August 2, 1988;  Accepted: November 2, 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.

Keywords :Congenital hypothyroidism, Organification defect, Perchlorate discharge test