Extrathyroidal Manifestations of Persistent Sporadic Non-Autoimmune Hyperthyroidism in a 6-Year-Old Boy: A Case Report
| Autor: | Moon Bae Ahn |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
0301 basic medicine
endocrine system congenital hyperthyroidism endocrine system diseases Science 030209 endocrinology & metabolism Case Report intraventricular hemorrhage General Biochemistry Genetics and Molecular Biology precocious puberty 03 medical and health sciences 0302 clinical medicine Gain of function mutation Thyroid cells Missense mutation Medicine Precocious puberty Receptor Gene Ecology Evolution Behavior and Systematics business.industry bladder stones Paleontology medicine.disease Phenotype eye diseases 030104 developmental biology Space and Planetary Science Hormone receptor Immunology business thyrotropin receptors hormones hormone substitutes and hormone antagonists |
| Zdroj: | Life Life, Vol 11, Iss 713, p 713 (2021) |
| ISSN: | 2075-1729 |
| Popis: | Thyroid-stimulating hormone receptor (TSHR) belongs in a subfamily of the G protein-coupled receptors. Thyroid-stimulating hormone receptor gene (TSHR), a gene encoding TSHR, is a major controller of thyroid cell metabolism, and its gain of function mutation leads to non-autoimmune hyperthyroidism (NAH), a condition of a prolonged state of hyperthyroidism. Diverse human diseases, and genetic, constitutional, or environmental factors contribute to the phenotypic variations of TSHR mutations; however, the underlying mechanisms leading to various extrathyroidal manifestations across ages are poorly understood. In 2018, the first Korean case of persistent sporadic NAH due to missense mutation of TSHR was reported, and this report highlights the extrathyroidal manifestations of NAH. Further investigation is warranted to clarify the roles of functional mutations of TSHR by investigating the correlation between G protein-dependent signaling properties and clinical phenotypes associated with persistent hyperthyroidism in order to develop novel therapies that could be provided for numerous conditions caused by NAH. |
| Databáze: | OpenAIRE |
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