Ontology highlight
ABSTRACT:
SUBMITTER: Maruo Y
PROVIDER: S-EPMC4709977 | biostudies-literature | 2016 Jan
REPOSITORIES: biostudies-literature
Maruo Yoshihiro Y Mori Asami A Morioka Yoriko Y Sawai Chihiro C Mimura Yu Y Matui Katsuyuki K Takeuchi Yoshihiro Y
BMC endocrine disorders 20160112
<h4>Background</h4>Resistance to thyroid hormone beta (RTHβ) is a rare and usually dominantly inherited syndrome caused by mutations of the thyroid hormone receptor β gene (THRB). In severe cases, it is rarely challenging to control manifestations using daily therapeutic replacement of thyroid hormone.<h4>Case presentation</h4>The present case study concerns an 8-year-old Japanese girl with a severe phenotype of RTH (TSH, fT3, and fT4 were 34.0 mU/L, >25.0 pg/mL and, >8.0 ng/dL, respectively), c ...[more]