Article
A family of RTHβ with p.R316C mutation presenting occasional syndrome of inappropriate secretion of TSH.
Endocrine journal - 1 Jan 2015
Ueda Yohei, Tagami Tetsuya, Tamanaha Tamiko, Kakita Maiko, Tanase-Nakao Kanako, Nanba Kazutaka, Usui Takeshi, Naruse Mitsuhide, Shimatsu Akira
Abstract excerpt
The syndrome of inappropriate secretion of thyrotropin (SITSH) is a hallmark of resistance to thyroid hormone (RTH) due to mutations in the β isoform of the thyroid hormone receptor (TRβ). Here, we report on a family of RTH due to a TRβ mutation (RTHβ) and presenting occasional SITSH. The proband was a 16 year-old girl with a goiter, detected at a school physical examination. She was initially diagnosed as having...
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