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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... |