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Related Concept Videos

Hyperthyroidism II: Pathophysiology01:27

Hyperthyroidism II: Pathophysiology

Hyperthyroidism is a hypermetabolic state caused by elevated levels of thyroid hormones, triiodothyronine (T3) and thyroxine (T4). It results from dysregulation at the thyroid, pituitary, or immune system level and affects multiple organ systems.PathophysiologyThe most common cause of hyperthyroidism is Graves’ disease, an autoimmune disorder in which antibodies, specifically thyroid-stimulating antibodies (TSAb), a subtype of TSH receptor antibodies (TRAb), bind to and activate TSH receptors...
Hyperthyroidism I: Introduction01:25

Hyperthyroidism I: Introduction

Hyperthyroidism is a type of thyrotoxicosis characterized by the thyroid gland's overproduction of the thyroid hormones triiodothyronine (T3) and thyroxine (T4). This hormone excess increases the basal metabolic rate and enhances sensitivity to catecholamines.DiagnosisDiagnosis is based on clinical features and biochemical testing. It typically shows suppressed thyroid-stimulating hormone (TSH) levels below 0.4 mIU/L, with elevated free T3 and/or T4. Additional tests, including thyroid...
Graves' Disease I: Introduction01:28

Graves' Disease I: Introduction

Graves' disease is an autoimmune disorder that causes hyperthyroidism, or overactivity of the thyroid gland. It results from autoantibodies called thyroid-stimulating immunoglobulins (TSIs), which bind to thyroid-stimulating hormone (TSH) receptors, leading to overstimulation of hormone production and a hypermetabolic state.EtiologyAlthough considered idiopathic, Graves’ disease has well-established contributing factors. There is a strong genetic component, with increased prevalence in...
Graves Disease II: Pathophysiology01:24

Graves Disease II: Pathophysiology

Graves’ disease is an autoimmune disorder characterized by the production of thyroid-stimulating immunoglobulins (TSI) that activate TSH receptors, leading to excessive synthesis and release of thyroid hormones (T3 and T4) and resulting in hyperthyroidism.Among all causes of hyperthyroidism, Graves’ disease is the most common and can happen at any age, though it is more frequent in women. It produces a hypermetabolic state with features such as weight loss, tachycardia, tremor, and heat...
Hypothyroidism II: Pathophysiology01:23

Hypothyroidism II: Pathophysiology

Hypothyroidism is a disorder characterized by insufficient production of thyroid hormones, which regulate metabolism, energy balance, and multiple organ systems.TypesHypothyroidism is classified based on the level of dysfunction. Primary hypothyroidism results from intrinsic thyroid gland dysfunction, causing reduced hormone production despite normal or increased stimulation. Secondary hypothyroidism arises from inadequate thyroid-stimulating hormone (TSH) secretion by the pituitary. Tertiary...
Synthesis and Regulation of Thyroid Hormones01:20

Synthesis and Regulation of Thyroid Hormones

Low blood levels of the thyroid hormones — triiodothyronine (T3) and thyroxine (T4) — signal the hypothalamus to release the thyrotropin-releasing hormone (TRH). TRH then reaches the pituitary gland and stimulates the release of thyroid-stimulating hormone(TSH) into the bloodstream.
Upon reaching the thyroid gland, TSH stimulates the follicular cells' active uptake of iodide ions from the blood. The ions diffuse to the apical surface of the cells and are oxidized to iodine. The iodine is then...

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Generation of a Mouse Spontaneous Autoimmune Thyroiditis Model
04:39

Generation of a Mouse Spontaneous Autoimmune Thyroiditis Model

Published on: March 17, 2023

Genetic hyperthyroidism: hyperthyroidism due to activating TSHR mutations.

A Hébrant1, W C G van Staveren, C Maenhaut

  • 1School of Medicine, Institute of Interdisciplinary Research (IRIBHM), Free University of Brussels, Campus Erasme, Route de Lennik 808, B-1070 Brussels, Belgium.

European Journal of Endocrinology
|October 8, 2010
PubMed
Summary
This summary is machine-generated.

Genetic mutations in the TSH receptor gene (TSHR) cause familial and sporadic hyperthyroidism, as well as autonomous adenomas. These conditions represent different expressions of the same genetic disease, influenced by mutation intensity and timing.

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Area of Science:

  • Endocrinology
  • Genetics
  • Molecular Biology

Background:

  • Familial nonautoimmune hyperthyroidism, sporadic congenital nonautoimmune hyperthyroidism, and autonomous adenomas are distinct thyroid disorders.
  • Previous research has described these conditions separately in medical literature.

Purpose of the Study:

  • To investigate the underlying genetic cause linking familial nonautoimmune hyperthyroidism, sporadic congenital nonautoimmune hyperthyroidism, and autonomous adenomas.
  • To explore the physiological and gene expression consequences of TSHR mutations in the thyroid gland.

Main Methods:

  • Analysis of TSH receptor gene (TSHR) mutations.
  • Comparative study of thyroid physiology and gene expression in affected individuals.
  • Evaluation of mutation intensity, timing, and affected cell count.

Main Results:

  • Activating mutations in the TSHR gene are the common cause for the three distinct hyperthyroid syndromes.
  • Thyroid physiology and gene expression changes are qualitatively similar but quantitatively different across the syndromes.
  • The clinical presentation depends on mutation intensity, timing, and the number of affected thyroid cells.

Conclusions:

  • Familial nonautoimmune hyperthyroidism, sporadic congenital nonautoimmune hyperthyroidism, and autonomous adenomas are facets of a single disease: genetic hyperthyroidism due to TSHR mutations.
  • The spectrum of TSHR mutation effects explains the varied clinical manifestations of hyperthyroidism.