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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 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 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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Thyroid function in Rett syndrome.

Stefano Stagi1, Loredana Cavalli, Laura Congiu

  • 1Health Sciences Department, University of Florence, Anna Meyer Children's University Hospital, Florence, Italy.

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|January 24, 2015
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Summary

Thyroid function abnormalities are common in Rett syndrome (RTT). Many RTT patients exhibit elevated thyroid hormones (TH), suggesting a need for thyroid screening in affected children.

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Area of Science:

  • Neuroscience
  • Endocrinology
  • Genetics

Background:

  • Thyroid function in Rett syndrome (RTT) is understudied, yet thyroid hormones (TH) are crucial for brain development.
  • Previous studies on thyroid function in RTT have yielded inconsistent results.

Purpose of the Study:

  • To determine the frequency of thyroid function abnormalities in a group of children diagnosed with RTT.
  • To compare thyroid function markers between RTT patients and healthy controls.

Main Methods:

  • Serum levels of free-T3 (FT3), free-T4 (FT4), and thyroid-stimulating hormone (TSH) were measured in 45 girls with RTT.
  • Thyroid autoantibodies (thyroperoxidase, thyroglobulin, TSH receptor) were also assessed.
  • Results were compared to a control group of 146 healthy girls.

Main Results:

  • RTT patients showed significantly higher FT4 levels compared to controls (17.7% vs. 0.7% above reference limits).
  • Elevated FT3 (26.7% vs. 2.0%) and TSH (11.1% vs. 2.0%) levels were also more frequent in RTT patients.
  • Specific RTT genotypes (CDKL5 deletions, other MeCP2 mutations) were associated with higher FT4 and FT3 levels.

Conclusions:

  • Thyroid function abnormalities are prevalent in individuals with Rett syndrome.
  • The findings suggest a potential link between thyroid dysfunction and the RTT phenotype that warrants further investigation.
  • Routine screening for thyroid dysfunction is recommended for children with RTT.