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Thyroid hormone resistance.

R E Weiss1, S Refetoff

  • 1Department of Medicine, University of Chicago, Illinois 60637.

Annual Review of Medicine
|January 1, 1992
PubMed
Summary
This summary is machine-generated.

Generalized resistance to thyroid hormone (GRTH) involves reduced tissue response to thyroid hormone, often due to thyroid hormone receptor mutations. This inherited condition serves as a model for other nuclear receptor hormone resistance syndromes.

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Area of Science:

  • Endocrinology
  • Molecular Biology
  • Genetics

Background:

  • Generalized resistance to thyroid hormone (GRTH) is a condition of reduced target tissue sensitivity to thyroid hormone.
  • It stems from defects in thyroid hormone action, often at the receptor level.
  • GRTH exemplifies broader challenges in hormone signaling via nuclear receptors.

Purpose of the Study:

  • To define the characteristics of Generalized Resistance to Thyroid Hormone (GRTH).
  • To elucidate the genetic basis and inheritance patterns of GRTH.
  • To establish GRTH as a model for nuclear receptor-mediated hormone resistance.

Main Methods:

  • Review of clinical and genetic data from patients with GRTH.
  • Analysis of mutations in the thyroid hormone receptor.

Related Experiment Videos

  • Comparative studies with other nuclear receptor-based hormone resistance syndromes.

    • Main Results:

    • GRTH presents as a heterogeneous group of disorders.
    • The majority of GRTH cases are inherited as dominant traits.
    • Mutations are frequently identified in the hormone-binding domain of the thyroid hormone receptor.

    Conclusions:

    • GRTH is characterized by impaired thyroid hormone action due to receptor defects.
    • Dominant inheritance and specific receptor mutations are common in GRTH.
    • GRTH provides a foundational understanding for other hormone resistance syndromes involving nuclear receptors.