...) and hyperthyrotropinemia (HTT) were observed in 13 and 11 infants, respectively. There were no differences in the clinical characteristics between the HT and HTT groups. Overall, 24 infants discontinued thyroxine medication at 24 months of age after normal results had been confirmed by radiologic work-ups, including...

... suggesting PTH resistance and PHP. Hormonal resistance Hyperphosphatemia Hyperthyrotropinemia Hypocalcemia Albright osteodystrophy Imprinting GNAS Total serum calcium, phosphorus, and PTH measurements were performed using standard laboratory techniques. The neonatal screening program...

... of this study was to clarify the phenotype of patients with a homozygous R450H mutation of the TSHR gene; the mutant receptor has previously demonstrated moderately impaired function in vitro. Methods: We performed a clinical investigation of 5 Japanese patients who had hyperthyrotropinemia as neonates, in whom...

...Ruth V. Mikelsaar; Mart Viikmaa According to neonatal thyroid screening the incidence of congenital hypothyroidism in Estonia is 1:2,860. Transient hyperthyrotropinemia with a raised thyroid-stimulating hormone level of 5 μU/ml occurred in 17.7% of infants and was not associated with low birth...