Search research articles

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

Related Concept Videos

Hyperthyroidism I: Introduction

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...

Hypothyroidism II: Pathophysiology

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 II: Pathophysiology

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...

Graves Disease II: Pathophysiology

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...

Graves' Disease I: Introduction

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...

Synthesis and Regulation of Thyroid Hormones

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...

You might also read

Related Articles

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

Sort by

Same author

Polarity-Dependent Charge Transport and Resistance Degradation Enabled by Oxygen-Vacancy Gradients in BiFeO<sub>3</sub> Films.

ACS applied materials & interfaces·2026

Same author

Serial Changes in Thyroid Hormones with Oral or Intravenous Bisphosphonates.

Indian journal of endocrinology and metabolism·2026

Same author

Efficacy of Dapagliflozin + Sitagliptin + Metformin Versus Sitagliptin + Metformin in T2DM Inadequately Controlled on Metformin Monotherapy: A Multicentric Randomized Trial.

Advances in therapy·2024

Same author

Global Warming and Endocrinology: The Hyderabad Declaration of the South Asian Federation of Endocrine Societies.

Indian journal of endocrinology and metabolism·2024

Same author

Delayed Sheehan's syndrome diagnosed during the evaluation of secondary infertility: A case report.

Clinical case reports·2024

Same author

Diagnosis and Management Considerations in Steroid-Related Hyperglycemia in COVID-19: A Position Statement from the Endocrine Society of India.

Indian journal of endocrinology and metabolism·2021

Search research articles

Related Experiment Video

Updated: Jun 18, 2026

Synchronous Triplanar Reconstruction Integrated with Color Doppler Mapping for Precise and Rapid Localization of Thyroid Lesions

Synchronous Triplanar Reconstruction Integrated with Color Doppler Mapping for Precise and Rapid Localization of Thyroid Lesions

Published on: February 9, 2024

Central hypothyroidism.

Jayaraman Muthukrishnan¹, K V S Harikumar, Abhyuday Verma

¹Department of Endocrinology, Medwin Hospital, Hyderabad, India. jmuthukrishnan@hotmail.com

Indian Journal of Pediatrics

|November 26, 2009

Summary

This summary is machine-generated.

Congenital hypothyroidism in a child was diagnosed due to a TSHB gene mutation. This genetic finding, a G to A base substitution, resulted in a Glycine to Arginine change, confirming a known cause of the condition.

Related Experiment Videos

Last Updated: Jun 18, 2026

Synchronous Triplanar Reconstruction Integrated with Color Doppler Mapping for Precise and Rapid Localization of Thyroid Lesions

Synchronous Triplanar Reconstruction Integrated with Color Doppler Mapping for Precise and Rapid Localization of Thyroid Lesions

Published on: February 9, 2024

Area of Science:

Pediatric Endocrinology
Human Genetics
Molecular Biology

Background:

Congenital hypothyroidism (CH) is a common endocrine disorder in newborns, requiring timely diagnosis and treatment to prevent developmental issues.
Genetic factors play a significant role in the etiology of CH, with mutations in various genes implicated.

Observation:

A 15-month-old male child from a consanguineous family presented with classic symptoms of congenital hypothyroidism.
Biochemical tests revealed low serum levels of thyroxine (T4) and triiodothyronine (T3), along with suppressed thyroid-stimulating hormone (TSH).
Pituitary imaging via magnetic resonance imaging (MRI) showed normal results, ruling out other pituitary hormone deficiencies.

Findings:

Genetic analysis identified a homozygous missense mutation in the TSHB gene, specifically a G to A single base substitution at codon 85.
This mutation leads to an amino acid change from Glycine to Arginine at position 85 in the TSH beta subunit.
The identified TSHB gene mutation has been previously documented in three other patients with a similar clinical presentation.

Implications:

This case reinforces the TSHB gene as a critical determinant of thyroid hormone synthesis and secretion.
The findings highlight the importance of genetic testing in diagnosing congenital hypothyroidism, particularly in cases with consanguineous parents.
Understanding the molecular basis of CH aids in genetic counseling and potentially in developing targeted therapeutic strategies.