Journal of Korean Endocrine Society 2000;15(1):113-120.
Published online January 1, 2001.
Mutations in Thyroid Hormone Receptor-beta Associated with Patients with Generalized Resistance and Pituitary Resistance to Thyroid Hormone.
Yong Seok Yun, Sung Kkwan Hong, Chul Woo Ahn, Jae Hyun Nam, Seok Won Park, Bong Su Cha, Young Duk Song, Eun Jig Lee, Sung Kil Lim, Kyung Rae Kim, Hyun Chul Lee, Kap Bum Huh
1Department of Internal Medicine, College of Medicine, Yonsei University, Seoul, Korea.
2Department of Internal Medicine, College of Medicine, Poucheon Cha University, Seoul, Korea.
We report a point mutation in the TRbeta gene in korean patients with generalized resistance and pituitary resistance to thyroid hormone. One mutation at TRbeta (P453S) were detected in patient with pituitary resistance to thyroid, which showed different phenotype, generalized resistance to thyroid hormone, in her mothers. But, the other (C31Y), did not show clear relations with the disease. Therefore, further study of molecular and cellular basis will be warranted to explain the clear mechanism of the resistance to thyroid hormone.
Key Words: Resistance to thyroid hormone, T3 receptor gene, Mutationc
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