scholarly journals A Newly Identified Insertion Mutation in the Thyroid Hormone Receptor-β Gene in a Korean Family with Generalized Thyroid Hormone Resistance

2007 ◽  
Vol 22 (3) ◽  
pp. 560 ◽  
Author(s):  
Ji Hye Kim ◽  
Tae Sun Park ◽  
Hong Sun Baek ◽  
Gu Hwan Kim ◽  
Han Wook Yoo ◽  
...  
Keyword(s):  
Thyroid Hormone ◽  
Hormone Receptor ◽  
Thyroid Hormone Receptor ◽  
Insertion Mutation ◽  
Hormone Resistance ◽  
Thyroid Hormone Resistance ◽  
Korean Family ◽  
Thyroid Hormone Receptor Β

scholarly journals Thyroid Hormone Resistance in the Heart: Role of the Thyroid Hormone Receptor β Isoform

Endocrinology ◽  
2004 ◽  
Vol 145 (4) ◽  
pp. 1625-1633 ◽  
Author(s):  
Tania M. Ortiga-Carvalho ◽  
Koshi Hashimoto ◽  
Carmen C. Pazos-Moura ◽  
David Geenen ◽  
Ronald Cohen ◽  
...  
Keyword(s):  
Thyroid Hormone ◽  
Hormone Receptor ◽  
Thyroid Hormone Receptor ◽  
Hormone Resistance ◽  
Thyroid Hormone Resistance ◽  
Thyroid Hormone Receptor Β

scholarly journals The Thyroid Hormone Receptor-β Gene Mutation R383H Is Associated with Isolated Central Resistance to Thyroid Hormone1

1999 ◽  
Vol 84 (9) ◽  
pp. 3099-3109
Author(s):  
J. D. Safer ◽  
M. G. O’Connor ◽  
S. D. Colan ◽  
S. Srinivasan ◽  
S. R. Tollin ◽  
...  
Keyword(s):  
Thyroid Hormone ◽  
Hormone Receptor ◽  
Thyroid Hormone Receptor ◽  
Deep Tendon Reflex ◽  
The Body ◽  
Hormone Resistance ◽  
Resistance To Thyroid Hormone ◽  
Thyroid Hormone Resistance ◽  
Tendon Reflex ◽  
Thyroid Hormone Receptor Β

Resistance to thyroid hormone (RTH) action is due to mutations in theβ -isoform of the thyroid hormone receptor (TR-β). RTH patients display inappropriate central secretion of TRH from the hypothalamus and of TSH from the anterior pituitary despite elevated levels of thyroid hormone (T4 and T3). RTH mutations cluster in three hot spots in the C-terminal portion of the TR-β. Most individuals with TR-β mutations have generalized resistance to thyroid hormone, where most tissues in the body are hyporesponsive to thyroid hormone. The affected individuals are clinically euthyroid or even hypothyroid depending on the severity of the mutation. Whether TR-β mutations cause a selective form of RTH that only leads to central thyroid hormone resistance is debated. Here, we describe an individual with striking peripheral sensitivity to graded T3 administration. The subject was enrolled in a protocol in which she received three escalating T3 doses over a 13-day period. Indexes of central and peripheral thyroid hormone action were measured at baseline and at each T3 dose. Although the patient’s resting pulse rose only 11% in response to T3, her serum ferritin, alanine aminotransferase, aspartate transaminase, and lactate dehydrogenase rose 320%, 117%, 121%, and 30%, respectively. In addition, her serum cholesterol, creatinine phosphokinase, and deep tendon reflex relaxation time fell (25%, 36%, and 36%, respectively). Centrally, the patient was sufficiently resistant to T3 that her serum TSH was not suppressed with 200 μg T3, orally, daily for 4 days. The patient’s C-terminal TR exons were sequenced revealing the mutation R383H in a region not otherwise known to harbor TR-β mutations. Our clinical evaluation presented here represents the most thorough documentation to date of the central thyroid hormone resistance phenotype in an individual with an identified TR-β mutation.

scholarly journals Thyroid hormone resistance syndrome caused by heterozygous A317T mutation in thyroid hormone receptor β gene

Medicine ◽  
2016 ◽  
Vol 95 (33) ◽  
pp. e4415 ◽  
Author(s):  
Qing-Hua Guo ◽  
Bao-An Wang ◽  
Chen-Zhi Wang ◽  
Min Wang ◽  
Ju-Ming Lu ◽  
...  
Keyword(s):  
Thyroid Hormone ◽  
Hormone Receptor ◽  
Thyroid Hormone Receptor ◽  
Hormone Resistance ◽  
Thyroid Hormone Resistance ◽  
Thyroid Hormone Receptor Β ◽  
Thyroid Hormone Resistance Syndrome
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