Searchable abstracts of presentations at key conferences in endocrinology

ea0016p817 | Thyroid | ECE2008

Five new mutations leading to partial deficiency of thyroxine-binding globulin

Moeller Lars C , Vinzelberg Philip , Pohlenz Joachim , Jaeger Andrea , Mann Klaus , Janssen Onno E

Introduction: Thyroxine-binding globulin (TBG) is the main thyroid hormone transport protein in blood. So far, 26 TBG deficiency mutations have been reported, 7 of them leading to partial TBG deficiency. We examined T4 binding capacity and the TBG gene in patients with normal free T4 (fT4) and reduced total T4 (TT4). We present and characterize five new partial TBG deficiency mutations.Methods: Automated chemiluminescence immunoassays were used for the d...