Article
[Congenital central hypothyroidism due to the mutations of the thyrotropin-releasing hormone receptor gene].
Nihon rinsho. Japanese journal of clinical medicine - 1 Feb 2002
Yamada Masanobu, Mori Masatomo
Abstract excerpt
The TRH receptor gene is a single copy gene containing three exons and two introns and was assigned to the chromosome 8q23. A patient with congenital central hypothyroidism due to the mutations of the thyrotropin-releasing hormone receptor gene has been reported by Collu, et al: in 1997. His sole manifestation was short stature, and his plasma TSH and prolactin levels did not increase in TRH test. He was found to...
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