【摘 要】
：
At least six major steps are required for secreted thyroid hormone (TH) to exert its action on target tissues.For three of these steps, human gene mutations and specific phenotypes have been identifie
【机 构】
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Shimane University Japan
【出 处】
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2013第三届内分泌与代谢大会暨2013第二届糖尿病大会
论文部分内容阅读
At least six major steps are required for secreted thyroid hormone (TH) to exert its action on target tissues.For three of these steps, human gene mutations and specific phenotypes have been identified.The first defect produces resistance to TH (RTH).It is caused by TH receptor beta gene mutations in the majority of cases and revealed goiter, attention deficit hyperactivity disorder, and high TH levels with non-suppressed TSH.Its mode of inheritance is autosomal dominant except for a few cases.Second, mutations in the TH cell-membrane transporter MCT8, produces severe psychomotor defects in X-linked recessive manner.MCT8 defect causes high T3 with normal TSH level.
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