1.
Chinese Journal of Endocrinology and Metabolism
;
(12): 683-685, 2008.
Artigo
em Chinês
| WPRIM
| ID: wpr-397369
RESUMO
Thyroid hormone insensitive syndrome is an inherited disease characterized by decreased target tissue responsiveness to thyroid hormone. Most cases are due to thyroid hormone receptor β gene mutation. Two novel types of thyroid hormone insensitive syndrome were recently identified, which are caused by gene mutations of MCT8, a specific thyroid hormone transporter, and SBP2 in the synthesis of deiodinase.