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Related Concept Videos

Autoimmune Disorders01:29

Autoimmune Disorders

Autoimmune diseases are a group of disorders in which the body's immune system mistakenly attacks its own cells, tissues, and organs. This results from an overactive immune response against substances and tissues normally present in the body. Let's delve into the concept and mechanism of autoimmune diseases from an immune system point of view, explore different causes and examples of such diseases, and discuss potential solutions.
Concept and Mechanism of Autoimmune Diseases
The immune system...
Type I Diabetes I: Introduction01:12

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Type 1 diabetes mellitus is a chronic metabolic disorder characterized by an absolute deficiency of insulin resulting from the autoimmune destruction of pancreatic β-cells. Although it can occur at any age, it is most commonly diagnosed in childhood, adolescence, or early adulthood. The loss of insulin production impairs cellular glucose uptake, resulting in persistent hyperglycemia and necessitating lifelong insulin therapy.Autoimmune Destruction of β-CellsThe hallmark of type 1 diabetes is an...
Type I Diabetes II: Pathophysiology01:26

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Type 1 diabetes mellitus arises from an immune-mediated destruction of pancreatic β-cells, resulting in an absolute deficiency of insulin. This process develops in genetically susceptible individuals when autoimmunity, environmental exposures, and immunologic dysregulation converge to trigger a targeted attack on the insulin-producing cells of the pancreas. The β-cells are located within the islets of Langerhans and are essential for regulating blood glucose by facilitating cellular uptake of...
Graves Disease II: Pathophysiology01:24

Graves Disease II: Pathophysiology

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, and heat...
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Related Experiment Video

Updated: May 26, 2026

Generation of a Mouse Spontaneous Autoimmune Thyroiditis Model
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Autoimmunity and Turner's syndrome.

Ana Lleo1, Luca Moroni, Lisa Caliari

  • 1Center for Autoimmune Liver Diseases, Department of Internal Medicine, IRCCS Istituto Clinico Humanitas, Rozzano, Italy.

Autoimmunity Reviews
|December 14, 2011
PubMed
Summary

Turner Syndrome (TS) is a genetic disorder in females linked to X chromosome absence, often causing infertility and increased autoimmune diseases. Early diagnosis and screening are vital for managing associated autoimmune conditions.

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Area of Science:

  • Genetics
  • Immunology
  • Endocrinology

Background:

  • Turner Syndrome (TS) affects females due to X chromosome absence.
  • TS is linked to reduced height, gonadal dysgenesis, infertility, and increased morbidity.
  • A strong association exists between TS and autoimmune diseases (AID), particularly autoimmune thyroiditis and inflammatory bowel disease.

Purpose of the Study:

  • To explore the immunopathogenic mechanisms underlying the association between TS and AID.
  • To investigate the role of X-chromosome abnormalities in AID development in TS patients.
  • To highlight the need for improved diagnostic guidelines and screening protocols for TS-associated autoimmune conditions.

Main Methods:

  • Review of recent studies on TS and immune response.
  • Analysis of genetic factors, including X-chromosome abnormalities and immune regulation.
  • Examination of clinical associations between TS and autoimmune manifestations.

Main Results:

  • TS patients do not exhibit an excess of general immunogenic risk markers.
  • X-chromosome abnormalities, particularly loss of the MHC-locus on the Xq arm, may contribute to immune dysregulation in TS.
  • The precise immunopathogenic mechanisms linking TS and AID remain incompletely understood.

Conclusions:

  • Turner Syndrome is frequently associated with autoimmune manifestations.
  • Individuals with TS require lifelong medical monitoring and screening for associated autoimmune conditions.
  • Early diagnosis and proactive management are crucial for the long-term health of TS patients.