2020
DOI: 10.1007/s12020-020-02270-z
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Constitutive TSH receptor activation as a hallmark of thyroid autonomy

Abstract: Since its cloning more than 30 years ago, the thyrotropin receptor (TSHR) has emerged as a pivotal player in thyroid physiology and pathophysiology. In particular, hyperthyroidism due to autoimmune disease or thyroid autonomy is linked with TSHR activation via autoantibodies or mutations respectively. This review summarises clinical aspects of constitutive TSH receptor activation by naturally occurring somatic or germline TSHR mutations resulting in TSH-independent thyroid function and cell proliferation.

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Cited by 11 publications
(7 citation statements)
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“…However, TSHR expression has also been demonstrated in other tissues, such as the hypothalamus, cerebellum, amygdala, cortex, cingulate gyrus, frontal, occipital and temporal lobes, periorbital tissue, epidermis, hair follicles, kidneys, ovaries, testicles, adrenals, bone marrow hematopoietic cells, thymocytes, and antigen-presenting cells (APCs), among others [ 31 , 32 ].…”
Section: Major Thyroid Antigensmentioning
confidence: 99%
“…However, TSHR expression has also been demonstrated in other tissues, such as the hypothalamus, cerebellum, amygdala, cortex, cingulate gyrus, frontal, occipital and temporal lobes, periorbital tissue, epidermis, hair follicles, kidneys, ovaries, testicles, adrenals, bone marrow hematopoietic cells, thymocytes, and antigen-presenting cells (APCs), among others [ 31 , 32 ].…”
Section: Major Thyroid Antigensmentioning
confidence: 99%
“…Early diagnosis of this disease is essential to obtain the optimal result of treatment of this pathology because a long-term hyperthyroid state leads to irreversible changes in the structure and functioning of many vital organs and systems: cardiovascular, nervous, and others [4,5].…”
Section: Connection Of the Publication With Planned Research Workmentioning
confidence: 99%
“…Для отримання оптимального результату лікування даної патології важлива рання діагностика даного захворювання, адже тривалий гіпертиреоїдний стан призводить до безповоротних змін в структурі та функціонуванні багатьох життєво важливих органах та системах: серцево-судинній, нервовій, та інших [4,5].…”
Section: вступunclassified
“…Activating mutations of the TSH-R have been implicated in thyroid autonomy and hyperthyroidism ( 64 , 65 ), these are usually located in exons 9 and 10 that encode the transmembrane domain ( 8 ). Inherited germline mutations are implicated in Familial Non-Autoimmune Autosomal Dominant Hyperthyroidism (OMIM 609152) ( 66 ), a rare, autosomal dominant, disease that courses with hyperthyroidism of varying severity and age of onset, and goiter.…”
Section: Tsh Receptor In Human Diseasementioning
confidence: 99%