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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...
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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...
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...
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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.
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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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In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
10:16

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Published on: December 20, 2017

Thyroid function in Fabry disease before and after enzyme replacement therapy.

A Faggiano1, R Severino, V Ramundo

  • 1Department of Molecular and Clinical Endocrinology and Oncology, Federico II University, Naples, Italy. afaggian@unina.it

Minerva Endocrinologica
|April 5, 2011
PubMed
Summary
This summary is machine-generated.

Enzyme replacement therapy (ERT) for Fabry disease (FD) can reverse subclinical hypothyroidism. Regular thyroid function screening is essential for FD patients undergoing ERT.

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Area of Science:

  • Endocrinology
  • Genetics
  • Metabolic Disorders

Background:

  • Fabry disease (FD) is a genetic disorder resulting from alpha-galactosidase-A deficiency, leading to globotriaosylceramide accumulation.
  • FD patients exhibit a high prevalence of subclinical hypothyroidism, potentially linked to intra-thyroid lipid accumulation rather than autoimmunity.

Purpose of the Study:

  • To investigate the impact of long-term enzyme replacement therapy (ERT) on thyroid function in patients with Fabry disease.
  • To determine if thyroid function abnormalities in FD patients can be reversed with ERT.

Main Methods:

  • A cohort of 14 FD patients and 14 matched controls were studied.
  • Thyroid function tests (TSH, fT3, fT4) and thyroid ultrasonography were performed at baseline and after three years of ERT with rh-alpha-galactosidase-A.

Main Results:

  • FD patients had higher TSH levels than controls. ERT significantly reduced TSH levels in FD patients (1.9±0.2 to 1.2±0.2 mU/L).
  • Thyroid hormone levels (fT3, fT4) remained normal. Three patients with elevated TSH normalized after ERT. Thyroid ultrasonography showed reduced hypoechogenicity post-ERT.
  • Autoimmunity markers (Anti-Tg, Anti-TPO) remained unchanged, suggesting ERT's effect is not via modulating thyroid autoimmunity.

Conclusions:

  • Long-term enzyme replacement therapy effectively reverses primary hypothyroidism in Fabry disease patients.
  • Mandatory screening and periodic re-evaluation of thyroid function are crucial for all FD patients undergoing ERT.