Article
Incidental identification of a thyroid hormone receptor beta (THRB) gene variant in a family with autoimmune thyroid disease.
Thyroid : official journal of the American Thyroid Association - 1 Dec 2013
Larsen Cæcilie C, Dumitrescu Alexandra, Guerra-Argüero Laura M, Gállego-Suárez Cecillia, Vazquez-Mellado Alberto, Vinogradova Maia, Fletterick Robert, Refetoff Samuel, Weiss Roy E
Abstract excerpt
BACKGROUND: Resistance to thyroid hormone (RTH) is a rare condition usually diagnosed in patients with classic thyroid function tests (TFTs) of elevated thyroid hormone levels with nonsuppressed TSH. The presence of autoimmune thyroid disease (AITD) can confound the clinical diagnosis of RTH. A family was evaluated because several members had elevated TSH and normal or low serum T4 concentrations with AITD. While...
Topics
- Adult
- Autoimmune Diseases
- Female
- Humans
- Male
- Middle Aged
- Mutation
- Pedigree
- Thyroid Diseases
- Thyroid Hormone Receptors beta
- Thyroid Hormones