We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
Incidental identification of a thyroid hormone receptor beta (THRB) gene variant in a family with autoimmune thyroid disease.
- Authors
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
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 these individuals were initially reported to have RTH, they were found to have a normal thyroid hormone receptor beta (THRB) gene sequence, and three other asymptomatic family members were found to harbor the variant TRβ G339S.
- Publication
Thyroid : official journal of the American Thyroid Association, 2013, Vol 23, Issue 12, p1638
- ISSN
1557-9077
- Publication type
Journal Article
- DOI
10.1089/thy.2013.0174