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Related Concept Videos

Adrenal Gland Disorders01:27

Adrenal Gland Disorders

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Adrenal gland disorders manifest when the production of adrenal hormones deviates from the norm, resulting in either excessive or insufficient concentrations.
Adrenal insufficiency, characterized by insufficient cortisol and aldosterone production, leads to conditions like Addison's disease. This disorder, affecting the adrenal cortex, exhibits symptoms such as skin bronzing, dehydration, low blood pressure, fatigue, and weight loss. Congenital adrenal hyperplasia, a genetic ailment causing...
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Synthesis and Regulation of Thyroid Hormones01:20

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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...
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Dysrhythmias II: Classification of Tachyarrhythmias01:28

Dysrhythmias II: Classification of Tachyarrhythmias

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Tachyarrhythmias are a type of dysrhythmia where the heart rate exceeds 100 beats per minute. Here are some common types of tachyarrhythmias:Sinus TachycardiaSinus tachycardia originates from increased impulses from the sinus node, leading to an elevated heart rate. It is often triggered by stress, fever, or exercise.Patients may experience palpitations, a sensation of a racing heart, dizziness, and chest discomfort.Causes and Risk Factors: Common causes include physical exertion, emotional...
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Functions of Thyroid Hormones01:18

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The thyroid hormone (TH) plays a pivotal role in the intricate orchestration of physiological processes, exerting profound effects on development, metabolism, and homeostasis throughout different life stages.
TH is indispensable for the normal development and maturation of the skeletal, muscular, and nervous systems during fetal and childhood growth. It facilitates bone mineral turnover and regulates protein synthesis in developing tissues, contributing significantly to overall growth and...
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The Thyroid Gland01:23

The Thyroid Gland

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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.
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Major Hormones and Their Functions01:27

Major Hormones and Their Functions

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Hormones, the biochemical messengers produced by endocrine glands, are pivotal in regulating bodily functions and maintaining homeostasis. Each hormone's balance is crucial; imbalances can lead to significant physiological disruptions. Major hormones include oxytocin, cortisol, epinephrine, estrogen, testosterone, thyroxine, growth hormone, insulin, and glucagon.
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Related Experiment Video

Updated: Dec 6, 2025

Generation of Hypoparathyroid Rats via Carbon-Nanoparticle-Assisted Parathyroidectomy
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Pendred syndrome with hyperthyroidism.

Yoshiro Kusano1

  • 1Third Department of Internal Medicine, Shirakawa Kosei General Hospital, Japan.

Journal of Rural Medicine : JRM
|October 9, 2020
PubMed
Summary

Pendred syndrome, a genetic disorder causing deafness and goiter, can present with hyperthyroidism. A specific SLC26A4 gene mutation was identified in a patient with this rare presentation.

Area of Science:

  • Genetics
  • Endocrinology
  • Otolaryngology

Background:

  • Pendred syndrome is an autosomal recessive disorder.
  • It is characterized by sensorineural deafness and goiter.
  • Typically associated with euthyroid or hypothyroid function, caused by SLC26A4/PDS gene mutations.

Purpose of the Study:

  • To report a rare case of Pendred syndrome presenting with hyperthyroidism.
  • To investigate the genetic basis of this unusual presentation.
  • To highlight the potential for Pendred syndrome to manifest with hyperthyroidism.

Main Methods:

  • Case study of an 83-year-old woman with congenital deaf-mutism and goiter.
  • Clinical evaluation including hearing assessment and thyroid function tests.
Keywords:
Pendred syndromeSLC26A4genehyperthyroidism

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  • Genetic analysis to identify SLC26A4 gene mutations.

    • Main Results:

    • The patient presented with congenital deaf-mutism, a large goiter, and hyperthyroidism.
    • Genetic testing revealed a homozygous mutation (c.1579A>C:p.T527P) in the SLC26A4 gene.
    • This mutation confirmed the diagnosis of Pendred syndrome.

    Conclusions:

    • Pendred syndrome can present with hyperthyroidism, particularly with significant goiter development.
    • The SLC26A4 gene mutation c.1579A>C:p.T527P may be associated with Pendred syndrome, not just nonsyndromic hearing loss.
    • This finding expands the known clinical spectrum of Pendred syndrome and SLC26A4 mutations.