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Related Concept Videos

Hypothyroidism II: Pathophysiology01:23

Hypothyroidism II: Pathophysiology

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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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Hyperthyroidism I: Introduction01:25

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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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Hyperthyroidism II: Pathophysiology01:27

Hyperthyroidism II: Pathophysiology

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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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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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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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Graves Disease II: Pathophysiology01:24

Graves Disease II: Pathophysiology

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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,...
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Central hypothyroidism in children.

Marta García1, Ana Fernández, José C Moreno

  • 1Thyroid Molecular Laboratory, Institute for Medical and Molecular Genetics (INGEMM), La Paz University Hospital, Madrid, Spain.

Endocrine Development
|September 19, 2014
PubMed
Summary
This summary is machine-generated.

Central congenital hypothyroidism (CCH) is an underdiagnosed disorder often missed by standard newborn screening. Early detection through T4-based screening is crucial to prevent developmental delays and associated pituitary issues.

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Area of Science:

  • Pediatric Endocrinology
  • Genetics
  • Molecular Biology

Background:

  • Central congenital hypothyroidism (CCH) is an underdiagnosed condition affecting childhood and adolescence.
  • CCH results from defects in thyroid-stimulating hormone (TSH) impacting T4 levels, often missed by TSH-based screening.
  • It is more common than previously estimated, affecting approximately 1 in 16,000 neonates.

Purpose of the Study:

  • To review novel pathogenic mechanisms in CCH.
  • To improve the identification and management of CCH in pediatric patients.
  • To highlight the importance of early diagnosis for preventing intellectual disability and associated pituitary defects.

Main Methods:

  • Literature review focusing on genetic bases and pathogenic mechanisms of CCH.
  • Analysis of diagnostic challenges and current screening strategies.
  • Discussion of implications for clinical management and therapeutic approaches.

Main Results:

  • Identified key genes involved in isolated central hypothyroidism, including TRHR, TSHB, and IGSF1.
  • Highlighted the prevalence of CCH and its association with other critical pituitary defects.
  • Emphasized the limitations of TSH-based screening for detecting CCH.

Conclusions:

  • Early detection of CCH via T4-based screening is vital to prevent severe developmental outcomes.
  • Understanding CCH's genetic and pathogenic mechanisms is key to improving diagnosis and treatment.
  • Integrated management of CCH and associated pituitary issues is essential for reducing morbidity and mortality.