Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

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...
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...
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...
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...
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...

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Cloning of the TSH receptor: the story from a Brussels perspective.

Annales d'endocrinologie·2011
Same author

Variants of the BMP15 gene in a cohort of patients with premature ovarian failure.

Human reproduction (Oxford, England)·2010
Same author

[Preimplantation genetic diagnosis (PGD): the Erasme Hospital experience].

Revue medicale de Bruxelles·2009
Same author

The specificity of binding of glycoprotein hormones to their receptors.

Cellular and molecular life sciences : CMLS·2008
Same author

Presence and absence of follicle-stimulating hormone receptor mutations provide some insights into spontaneous ovarian hyperstimulation syndrome physiopathology.

The Journal of clinical endocrinology and metabolism·2005
Same author

Prevalence of germline mutations in the TSH receptor gene as a cause of juvenile thyrotoxicosis.

Acta paediatrica (Oslo, Norway : 1992)·2004
Same journal

Mitochondria setting the stage for ferroptosis.

Trends in endocrinology and metabolism: TEM·2026
Same journal

Mitochondria produce lactate to vent redox pressure.

Trends in endocrinology and metabolism: TEM·2026
Same journal

Beyond fat storage: neuronal lipid droplets regulate whole-body metabolism.

Trends in endocrinology and metabolism: TEM·2026
Same journal

HDL resuscitates cells from ferroptosis.

Trends in endocrinology and metabolism: TEM·2026
Same journal

2-Methylbutyrylcarnitine (2MBC).

Trends in endocrinology and metabolism: TEM·2026
Same journal

Decoding growth hormone actions on human growth plate stem cells.

Trends in endocrinology and metabolism: TEM·2026
See all related articles

Related Experiment Video

Updated: Jul 6, 2026

Generation of a Mouse Spontaneous Autoimmune Thyroiditis Model
04:39

Generation of a Mouse Spontaneous Autoimmune Thyroiditis Model

Published on: March 17, 2023

TSH Receptor Mutations and Thyroid Disease.

L Duprez1, J Parma, J Van Sande

  • 1Institut de Recherche Interdisciplinaire, Faculty of Medicine, University of Brussels, Brussels, Belgium.

Trends in Endocrinology and Metabolism: TEM
|April 15, 2008
PubMed
Summary
This summary is machine-generated.

Thyrotropin receptor (TSHr) mutations cause thyroid dysfunction. Loss-of-function mutations lead to TSH resistance and hypothyroidism, while gain-of-function mutations cause toxic thyroid conditions like adenomas and hyperplasia.

Related Experiment Videos

Last Updated: Jul 6, 2026

Generation of a Mouse Spontaneous Autoimmune Thyroiditis Model
04:39

Generation of a Mouse Spontaneous Autoimmune Thyroiditis Model

Published on: March 17, 2023

Area of Science:

  • Endocrinology
  • Molecular Biology
  • Genetics

Background:

  • Thyrotropin receptor (TSHr) mutations are linked to various thyroid disorders.
  • These mutations can result in either loss-of-function (LOF) or gain-of-function (GOF) phenotypes.
  • Understanding TSHr mutation mechanisms is crucial for diagnosing and managing thyroid diseases.

Purpose of the Study:

  • To review the clinical manifestations and molecular basis of thyrotropin receptor (TSHr) mutations.
  • To differentiate the roles of LOF and GOF mutations in thyroid pathophysiology.
  • To explore the association of TSHr genetic variations with specific thyroid conditions.

Main Methods:

  • Literature review of studies on TSHr mutations.
  • Analysis of genetic data from patients with congenital hypothyroidism, toxic adenomas, multinodular goiters, and hyperthyroidism.
  • Categorization of mutations based on functional impact (LOF vs. GOF).

Main Results:

  • LOF mutations in the TSHr gene are associated with TSH resistance and congenital hypothyroidism.
  • GOF mutations, particularly somatic activating mutations, are the primary cause of benign toxic thyroid adenomas and some multinodular goiters.
  • GOF mutations are also implicated in hereditary toxic thyroid hyperplasia and sporadic congenital non-autoimmune hyperthyroidism.

Conclusions:

  • TSHr mutations represent a significant genetic factor in thyroid disease development.
  • LOF and GOF mutations have distinct clinical outcomes, affecting thyroid hormone regulation differently.
  • Further research into TSHr polymorphisms may elucidate their role in other thyroid conditions, though no link to Graves' disease is currently documented.