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Two Cases of Congenital TBG Deficiency

Journal of the Korean Pediatric Society 1995;38(5):697-701.
Published online May 15, 1995.
Two Cases of Congenital TBG Deficiency
In Seong Jo1, Ha Joo Choi1, Young Ah Lee1, Woo Gap Chung1, Youn Bok Chang2
1Department of Pediatrics, College of Medicine, Hallim University, Seoul, Korea
2Department of Internal Medicine, College of Medicine, Hallim University, Seoul, Korea
선천성 Thyroxine Binding Globulin결핍 2례
조인성1, 최하주1, 이영아1, 정우갑1, 장연복2
1한림대학교 의과대학 소아과학교실
2한림대학교 의과대학 내과학교실
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.
Key Words: Congenital TBG deficiency, Neonatal screening

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