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Related Concept Videos

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...
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...
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...
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...
The Thyroid Gland01:23

The Thyroid Gland

The thyroid gland is a small, butterfly-shaped gland located in the neck and covers the anterior surface of the trachea. The gland has two lateral lobes connected by a thin tissue mass called the isthmus. Internally, each lobe comprises many small spherical structures known as thyroid follicles, surrounded by a network of blood vessels.
The follicles have a central cavity lined by simple cuboidal to squamous epithelial cells called follicular cells. These cells produce the glycoprotein...

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Related Experiment Video

Updated: Jun 4, 2026

Cryosectioning and Immunostaining Mouse Inner Ear Tissue: From Embryonic to Adult Stages
09:09

Cryosectioning and Immunostaining Mouse Inner Ear Tissue: From Embryonic to Adult Stages

Published on: April 11, 2025

Hereditary hearing loss with thyroid abnormalities.

Byung Yoon Choi, Julie Muskett, Kelly A King

    Advances in Oto-Rhino-Laryngology
    |March 2, 2011
    PubMed
    Summary
    This summary is machine-generated.

    Mutations in SLC26A4 cause Pendred syndrome (PDS), a common hereditary hearing loss. Diagnosis involves genetic testing and evaluating thyroid function for enlarged vestibular aqueducts and goiter.

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    Cryosectioning and Immunostaining Mouse Inner Ear Tissue: From Embryonic to Adult Stages
    09:09

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    Transoral Endoscopic Thyroidectomy Vestibular Approach for Thyroid Lobectomy
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    Transoral Endoscopic Thyroidectomy Vestibular Approach for Thyroid Lobectomy

    Published on: May 12, 2023

    Area of Science:

    • Genetics
    • Otolaryngology
    • Endocrinology

    Background:

    • Pendred syndrome (PDS) and non-syndromic enlarged vestibular aqueduct (NSEVA) are caused by SLC26A4 mutations.
    • PDS is a frequent genetic cause of sensorineural hearing loss, often accompanied by enlarged vestibular aqueducts and thyroid abnormalities.
    • The SLC26A4 gene encodes pendrin, an anion exchanger crucial for inner ear and thyroid function.

    Purpose of the Study:

    • To summarize the genetic basis, clinical presentation, diagnosis, and management of PDS and related disorders.
    • To highlight the role of SLC26A4 mutations in hereditary hearing loss and vestibular dysfunction.
    • To discuss the diagnostic utility of genetic testing and the perchlorate discharge test.

    Main Methods:

    • Review of clinical and genetic findings in patients with PDS and NSEVA.
    • Analysis of the function of the SLC26A4 gene and its encoded protein, pendrin.
    • Discussion of diagnostic criteria and management strategies for PDS.

    Main Results:

    • SLC26A4 mutations are confirmed as the cause of PDS and NSEVA.
    • Diagnosis relies on identifying biallelic SLC26A4 mutations in individuals with enlarged vestibular aqueducts.
    • The perchlorate discharge test aids in identifying the biochemical defect in patients with goiter or inconclusive genetic results.

    Conclusions:

    • SLC26A4 mutations lead to PDS and NSEVA, manifesting as hearing loss and enlarged vestibular aqueducts.
    • Comprehensive diagnosis involves genetic analysis and functional thyroid testing.
    • Management focuses on hearing rehabilitation and thyroid disorder surveillance.