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Resistance to thyrotropin.

S Refetoff1

  • 1Department of Medicine, J. P. Kennedy Jr. Mental Retardation Research Center, The University of Chicago, Chicago, Illinois 60637, USA. refetoff@uchicago.edu

Journal of Endocrinological Investigation
|December 13, 2003
PubMed
Summary
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Resistance to Thyroid Stimulating Hormone (TSH) involves reduced TSH sensitivity, leading to elevated TSH levels without goiter. Genetic mutations in the TSH receptor are implicated, but other genetic causes remain unknown.

Area of Science:

  • Endocrinology
  • Genetics
  • Molecular Biology

Background:

  • Resistance to Thyroid Stimulating Hormone (TSH) is characterized by elevated TSH levels and normal or elevated thyroid hormones without goiter.
  • This condition can be misdiagnosed as primary or central hypothyroidism due to varying thyroid hormone levels and TSH concentrations.
  • Genetic factors, particularly mutations in the TSH receptor (TSHr) gene, are known contributors.

Purpose of the Study:

  • To summarize the clinical and genetic aspects of resistance to TSH.
  • To highlight the diagnostic challenges associated with this syndrome.
  • To discuss the known and unknown genetic etiologies of TSH resistance.

Main Methods:

  • Review of clinical case studies and genetic analyses of families with resistance to TSH.

Related Experiment Videos

  • Analysis of TSH receptor (TSHr) gene mutations and their functional consequences.
  • Examination of inheritance patterns and phenotypic variability.

    • Main Results:

    • Mutations in the TSHr gene, leading to reduced receptor function, were identified in 16 families.
    • Mutant TSHrs exhibited impaired ligand binding or membrane targeting.
    • A significant proportion of families presented TSH resistance without identified TSHr defects, often with dominant inheritance, indicating other genetic causes.

    Conclusions:

    • Resistance to TSH is a complex syndrome with diverse genetic underpinnings.
    • TSHr gene mutations explain some cases, but novel genetic factors are responsible for a larger subset of families.
    • Further research is needed to elucidate the genetic basis of TSH resistance in families without TSHr defects.