A rare mutation of thyroid hormone receptor beta gene in thyroid hormone resistance syndrome
Authors/Creators
- 1. Division of Endocrinology and Diabetology, Sant'Anna Hospital - ASST Lariana, Como, Italy
- 2. Department of Endocrine and Metabolic Diseases, Lab of Endocrine and Metabolic Research, San Luca Hospital, IRCCS Istituto Auxologico Italiano, Milan, Italy
- 3. Division of Geriatrics, Sant'Anna Hospital - ASST Lariana, Como, Italy
- 4. Department of Endocrine and Metabolic Diseases, Lab of Endocrine and Metabolic Research, San Luca Hospital, IRCCS Istituto Auxologico Italiano, Milan, Italy, Department of Medical Biotechnologies and Translational Medicine, University of Milan, Milan, Italy
Description
Resistance to thyroid hormone (RTH) is a rare hereditary syndrome with impaired sensitivity to thyroid hormones (TH) and reduced intracellular action of triiodothyronine (T3) caused by genetic variants of TH receptor beta (TRB) or alpha (TRA). RTH type beta (RTHβ) due to dominant negative variants in the TRB gene usually occurs with persistent elevation of circulating free TH, non-suppressed serum TSH levels responding to a thyrotropin-releasing hormone (TRH) test, an absence of typical symptoms of hyperthyroidism and goiter. Here, we present a rare variant in the TRB gene reported for the first time in an Italian patient with generalized RTHβ syndrome. The patient showed elevated TH, with non-suppressed TSH levels and underwent thyroid surgery two different times for multinodular goiter. The genetic test showed a heterozygous mutation in exon 9 of the TRB gene resulting in the replacement of threonine (ACG) with methionine (ATG) at codon 310 (p.M310T). RTHβ syndrome should be considered in patients with elevated TH, non-suppressed TSH levels and goiter.
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