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Related Concept Videos

Functions of Thyroid Hormones01:18

Functions of Thyroid Hormones

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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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Hypothyroidism II: Pathophysiology01:23

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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...
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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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Hyperthyroidism II: Pathophysiology01:27

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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...
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Hyperthyroidism I: Introduction01:25

Hyperthyroidism I: Introduction

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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...
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Graves' Disease I: Introduction01:28

Graves' Disease I: Introduction

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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...
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Related Experiment Video

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An Ex vivo Culture System to Study Thyroid Development
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Genetics of normal and abnormal thyroid development in humans.

Gabor Szinnai1

  • 1Division of Paediatric Endocrinology and Diabetology, University Children's Hospital Basel UKBB, Spitalstrasse 33, CH-4031 Basel, Switzerland; Department of Biomedicine, University Basel, Spitalstrasse 33, CH-4031 Basel, Switzerland.

Best Practice & Research. Clinical Endocrinology & Metabolism
|March 18, 2014
PubMed
Summary

Congenital hypothyroidism often results from thyroid dysgenesis, a developmental issue. Research explores its genetic causes, moving beyond simple inheritance to understand complex developmental mechanisms.

Keywords:
Mendelian inheritancecongenital hypothyroidismendodermepigeneticsneonatal screeningthyroid developmentthyroid dysgenesisthyroxine

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Area of Science:

  • Developmental Biology
  • Endocrinology
  • Genetics

Background:

  • Congenital hypothyroidism (CH) is frequently caused by thyroid dysgenesis (TD).
  • TD encompasses a range of thyroid developmental abnormalities, including athyreosis, hypoplasia, and ectopy.
  • While often sporadic, genetic forms of TD are increasingly recognized.

Purpose of the Study:

  • To review the molecular mechanisms underlying thyroid organogenesis.
  • To describe the clinical and genetic features of monogenic TD forms.
  • To discuss diagnostic and counseling aspects and explore research into non-Mendelian TD mechanisms.

Main Methods:

  • Literature review focusing on molecular mechanisms, genetics, and clinical presentations of TD.
  • Analysis of current research strategies for understanding thyroid development.
  • Synthesis of information for diagnosis and family counseling.

Main Results:

  • Thyroid dysgenesis involves a spectrum of developmental defects.
  • Genetics of TD are complex, involving monogenic, multigenic, and epigenetic factors.
  • Understanding these mechanisms is crucial for diagnosis and management.

Conclusions:

  • Thyroid dysgenesis is a primary cause of congenital hypothyroidism with diverse genetic underpinnings.
  • Non-Mendelian inheritance patterns are significant in TD.
  • Further research is needed to elucidate complex genetic and epigenetic factors influencing thyroid development.