Article
Unexpected peripheral markers of thyroid function in a patient with a novel mutation of the MCT8 thyroid hormone transporter gene.
Hormone research - 1 Jan 2007
Herzovich V, Vaiani E, Marino R, Dratler G, Lazzati J M, Tilitzky S, Ramirez P, Iorcansky S, Rivarola M A, Belgorosky A
Abstract excerpt
The specific thyroid hormone transporter, MCT8, located on the X chromosome, has led to the identification a novel syndrome. The objective is to relate phenotype with several tissue-specific thyroid functions. A 1-year-old boy, who had severe psychological damage and low serum T4, had received l-T4 for 3 months. At admission, body length was normal but weight was low. Off therapy, serum TSH was mildly elevated,...
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