All issues > Volume 38(5); 1995

Case Report

J Korean Pediatr Soc. 1995;38(5):697-701. Published online May 15, 1995.

Two Cases of Congenital TBG Deficiency

In Seong IS Jo¹, Ha Joo HJ Choi¹, Young Ah YA Lee¹, Woo Gap WG Chung¹, Youn Bok YB Chang²

¹Department of Pediatrics, College of Medicine, Hallim University, Seoul, Korea
²Department of Internal Medicine, College of Medicine, Hallim University, Seoul, Korea

Abstract

We have experienced 4 and 5-week-old male neonates presented low T4 and normal TSH l-evel by filter paper mothod for neonatal screening, finally diagnosed typical TDG deficiency wit h TBG radioimmunoassay, paper electrophoresis, and autoradiography. Two neonates have ha d no specific complaints and lived well until now. Congenital TBG deficiency is an X chromosome linked inhcritant disorder characterized by l ow T4 and T3, normal TSH, and low TBG level, usually detected during neonatal screening test for congenital hypothyroidism and requiring no specific treatmint. The incidence is about one per five thousand live births and tho etioloty is unknown but the oretically two different mechanisms suggested; reduced secretion duo to alteration in gene expression and accelerated rate of degradatin due to instability cif the variant TBG molecules. We report two cases of congenital THU deficiency with brief review of related literatures.

Keywords :Congenital TBG deficiency, Neonatal screening