scholarly journals Incidental Identification of a Thyroid Hormone Receptor Beta (THRB) Gene Variant in a Family with Autoimmune Thyroid Disease

Thyroid ◽  
2013 ◽  
Vol 23 (12) ◽  
pp. 1638-1643 ◽  
Author(s):  
Cæcilie C. Larsen ◽  
Alexandra Dumitrescu ◽  
Laura M. Guerra-Argüero ◽  
Cecillia Gállego-Suárez ◽  
Alberto Vazquez-Mellado ◽  
...  
Keyword(s):  
Thyroid Hormone ◽  
Thyroid Disease ◽  
Hormone Receptor ◽  
Autoimmune Thyroid Disease ◽  
Thyroid Hormone Receptor ◽  
Gene Variant ◽  
Autoimmune Thyroid ◽  
Receptor Beta

scholarly journals E449X mutation in the thyroid hormone receptor β associated with autoimmune thyroid disease and severe neuropsychomotor involvement

2008 ◽  
Vol 52 (8) ◽  
pp. 1205-1210 ◽  
Author(s):  
Maria Helane Costa Gurgel ◽  
Renan M. Montenegro Junior ◽  
Rejane Araujo Magalhaes ◽  
Grayce Ellen da C. Paiva Lima ◽  
Renan Magalhães Montenegro ◽  
...  
Keyword(s):  
Thyroid Hormone ◽  
Thyroid Disease ◽  
Autoimmune Thyroid Disease ◽  
Thyroid Hormone Receptor ◽  
Clinical Laboratory ◽  
Stop Codon ◽  
Molecular Study ◽  
Laboratory Findings ◽  
Autoimmune Thyroid ◽  
Brazilian Patient

OBJECTIVE: To report the clinical and molecular aspects of a patient with a diagnosis of Resistance to Thyroid Hormone (RTH) harboring the E449X mutation associated with autoimmune thyroid disease and severe neuropsychomotor retardation. METHODS: We present a case report including clinical and laboratory findings, and molecular analysis of a Brazilian patient with RTH. RESULTS: A 23-year old male presented hyperactivity disorder, attention deficit, delayed neuropsychomotor development, and goiter. Since the age of 1 year and 8 months, his mother had sought medical care for her son for the investigation of delayed neuropsychomotor development associated with irritability, aggressiveness, recurrent headache, profuse sudoresis, intermittent diarrhea, polyphagia, goiter, and low weight. Laboratory tests revealed normal TSH, increased T3, T4, antithyroglobulin and antimicrosomal antibody titers. Increasing doses of levothyroxine were prescribed, reaching 200 µg/day, without significant changes in his clinical-laboratory picture. Increasing doses of tiratricol were introduced, with a clear clinical improvement of aggressiveness, hyperactivity, tremor of the extremities, and greater weight gain. Molecular study revealed a nonsense mutation in exon 10, in which a substitution of a guanine to tyrosine in nucleotide 1345 (codon 449) generates the stop codon TAA, confirming the diagnosis of RTH. CONCLUSION: This patient has severe neuropsychomotor retardation not observed in a single previous report with the same mutation. This may reflect the lack of a genotype-phenotype correlation in affected cases with this syndrome, suggesting that genetic variability of factors other than β receptor of thyroid hormone (TRβ) might modulate the phenotype of RTH.

Thyroid receptor ligands. Part 4: 4′-amido bioisosteric ligands selective for the thyroid hormone receptor beta

2006 ◽  
Vol 16 (4) ◽  
pp. 884-886 ◽  
Author(s):  
Yi-Lin Li ◽  
Chris Litten ◽  
Konrad F. Koehler ◽  
Karin Mellström ◽  
Neeraj Garg ◽  
...  
Keyword(s):  
Thyroid Hormone ◽  
Hormone Receptor ◽  
Thyroid Hormone Receptor ◽  
Receptor Ligands ◽  
Thyroid Receptor ◽  
Receptor Beta

3,5-Diiodothyronine-mediated transrepression of the thyroid hormone receptor beta gene in tilapia. Insights on cross-talk between the thyroid hormone and cortisol signaling pathways

2016 ◽  
Vol 425 ◽  
pp. 103-110 ◽  
Author(s):  
Gabriela Hernández-Puga ◽  
Pamela Navarrete-Ramírez ◽  
Arturo Mendoza ◽  
Aurora Olvera ◽  
Patricia Villalobos ◽  
...  
Keyword(s):  
Thyroid Hormone ◽  
Signaling Pathways ◽  
Cross Talk ◽  
Hormone Receptor ◽  
Thyroid Hormone Receptor ◽  
Beta Gene ◽  
Receptor Beta
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