Thyroid hormone resistance misdiagnosed as Graves' disease
Resistance to thyroid hormone (RTH) syndrome is a very rare disorder characterized by mutations of the thyroid hormone receptor beta and is usually inherited as an autosomal dominant trait. Patients with RTH are usually euthyroid but rarely may present with signs and symptoms consistent with hyperth...
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| Main Authors: | , , , , , |
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| Format: | Book |
| Published: |
Wolters Kluwer Medknow Publications,
2017-01-01T00:00:00Z.
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| Online Access: | Connect to this object online. |
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| Summary: | Resistance to thyroid hormone (RTH) syndrome is a very rare disorder characterized by mutations of the thyroid hormone receptor beta and is usually inherited as an autosomal dominant trait. Patients with RTH are usually euthyroid but rarely may present with signs and symptoms consistent with hyperthyroidism. Here, we describe the case of a young girl with goiter who was previously misdiagnosed to have hyperthyroidism and was subsequently diagnosed to be suffering from RTH. |
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| Item Description: | 2348-3334 2348-506X 10.4103/cjhr.cjhr_122_16 |