scholarly journals The Mutant Thyroid Hormone Receptor Beta R320P Causes Syndrome of Resistance to Thyroid Hormone

2018 ◽  
Vol 2018 ◽  
pp. 1-3 ◽  
Author(s):  
Tetsuya Kimura ◽  
Yoshitaka Hayashi ◽  
Yuka Tsukamoto ◽  
Yasuyuki Okamoto
Keyword(s):  
Thyroid Hormone ◽  
Thyroid Hormone Receptor ◽  
Elevated Serum ◽  
Index Patient ◽  
Serum Levels ◽  
Heterozygous Mutation ◽  
Hormone Resistance ◽  
Thyroid Hormone Resistance ◽  
First Case ◽  
Thyroid Hormone Resistance Syndrome

A 31-year-old Japanese male patient with a history of atrial fibrillation showed elevated serum levels of free thyroxine and triiodothyronine and a normal level of thyrotropin. The same abnormal hormone pattern was also found in his son. These data indicated that the index patient and the son have thyroid hormone resistance syndrome. Exon sequencing using DNA from these two patients revealed that both patients harbored a heterozygous mutation in the THRB gene: G1244C in exon 9, which results in R320P substitution. Therefore, thyroid hormone resistance syndrome caused by THRB mutation (RTHβ) was diagnosed. The mutation of the 320th arginine to proline has not been found to date. In conclusion, herein, we have described the first case of RTHβ that is associated with R320P mutation.

scholarly journals Thyroid hormone resistance syndrom: difficulties in differential diagnosis

2018 ◽  
Vol 14 (1) ◽  
pp. 39-46
Author(s):  
Lyudmila A. Ruyatkina ◽  
Aguniya A. Molchanova ◽  
Alina S. Ruyatkina ◽  
Lyudmila Y. Rozhinskaya
Keyword(s):  
Differential Diagnosis ◽  
Thyroid Hormone ◽  
Thyroid Hormones ◽  
Thyroid Hormone Receptor ◽  
Signs And Symptoms ◽  
Thyroid Stimulating Hormone ◽  
Heterozygous Mutation ◽  
Hormone Resistance ◽  
Thyroid Hormone Resistance ◽  
Free Thyroid Hormones

Thyroid hormone resistance syndrome (RTH) is a rare disorder characterized by reduced peripheral tissue responses to thyroid hormones (TH) and elevated levels of circulating free thyroid hormones. Resistance to thyroid hormone is caused by mutations of the thyroid hormone receptor beta (THRB) gene. In this article, we present case of 26-years-old women who presented with unclear signs and symptoms. Thyroid morphology and function were evaluated with standard ultrasound of the thyroid, scintigraphy and cytological specimen obtained by FNAB. The features of the basic assessment of thyroid status with an emphasis on the concept of “±feedback” of thyroid-stimulating hormone (TSH) and TH. A differential diagnosis of TSH-secreting pituitary adenoma and RTH was discussed. Heterozygous mutation p.P453T in the THRB gene was detected. Thus, the given clinical case demonstrates the necessity of the thorough examination of patients in identifying disorders of the principle of “±feedback”. The observation in dynamics is recommended.

scholarly journals Differential diagnosis between autoimmune thyrotoxicosis and thyroid hormone resistance syndrome: clinical case report

2019 ◽  
Vol 65 (2) ◽  
pp. 95-100 ◽  
Author(s):  
Natalya V. Mazurina ◽  
Ekaterina A. Troshina ◽  
Olga S. Chukhacheva
Keyword(s):  
Thyroid Hormone ◽  
Thyroid Hormones ◽  
Laboratory Tests ◽  
Direct Sequencing ◽  
Elevated Serum ◽  
Tissue Response ◽  
Hormone Resistance ◽  
Thyroid Hormone Resistance ◽  
Inappropriate Tsh Secretion ◽  
Thyroid Hormone Resistance Syndrome

We report a case of 50-year-old woman with thyroid hormone resistance syndrome. For 20 years this patient have been treated for autoimmune thyrotoxicosis: she underwent thyroid surgery and then was on thyroid-blocking therapy. Repeated laboratory tests demonstrated elevated serum thyroid hormones concentrations and elevated TSH concentration. Inappropriate TSH secretion became the reason for conducting further investigations. In those cases, the diagnostic approach is complicated and cases may be referred as a syndrome of thyroid hormones resistance or as a pituitary mass. Results of magnetic resonance imaging as well as results of octreotide test did not confirm TSH-producing pituitary adenoma. Lack of consistent thyrotoxicosis symptoms and normal level of biochemical markers that reflect peripheral tissue response to excessive thyroid hormones action were regarded as an evidence for thyroid hormones resistance syndrome. In cases of thyroid hormone resistance syndrome, there is no reduction in thyroid hormones after octreotide administration and we could observe it in our patient. Thereby clinical data and laboratory tests supported the diagnosis of thyroid hormone resistance syndrome. To establish definitive diagnosis and to verify genetic cause of the disease we performed direct sequencing of the THRB gene exons 910.

Thyroid hormone resistance syndrome due to mutations in the thyroid hormone receptor α gene (THRA)

2015 ◽  
Vol 52 (5) ◽  
pp. 312-316 ◽  
Author(s):  
Anna Tylki-Szymańska ◽  
Rocio Acuna-Hidalgo ◽  
Małgorzata Krajewska-Walasek ◽  
Agnieszka Lecka-Ambroziak ◽  
Marloes Steehouwer ◽  
...  
Keyword(s):  
Thyroid Hormone ◽  
Hormone Receptor ◽  
Thyroid Hormone Receptor ◽  
Hormone Resistance ◽  
Thyroid Hormone Resistance ◽  
Thyroid Hormone Receptor Α ◽  
Thyroid Hormone Resistance Syndrome
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