Endocrine Abstracts

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...

Introduction: Turner syndrome (TS) is characterized by the complete or partial loss of one X chromosome and associated with a wide range of clinical manifestations. The clinical appearance depends on the specific karyotype, which may include different mosaic forms. Main features of almost all the karyotypes are short stature and delayed or absent puberty. Adult women in particular are at high risk of developing cardiac complications, metabolic syndrome, increased liver enzyme ...