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Related Experiment Videos

Thyroid resistance to TSH complicated by autoimmune thyroiditis.

M Tonacchera1, P Agretti, G De Marco

  • 1Dipartimento di Endocrinologia e Metabolismo, Ortopedia e Traumatologia, Medicina del Lavoro, Università di Pisa, 56124 Cisanello, Pisa, Italy. mtonacchera@hotmail.com

The Journal of Clinical Endocrinology and Metabolism
|September 11, 2001
PubMed
Summary

This study identifies a homozygous inactivating mutation in the TSH receptor gene, causing compensated TSH resistance in a mother and son. Over time, the mother developed hypothyroidism and autoimmune thyroiditis.

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Area of Science:

  • Endocrinology
  • Genetics
  • Molecular Biology

Background:

  • Subclinical hypothyroidism is characterized by elevated thyroid-stimulating hormone (TSH) with normal free thyroid hormone levels.
  • TSH resistance, a rare condition, can lead to impaired thyroid hormone production.

Observation:

  • A 47-year-old woman presented with elevated TSH and normal thyroid hormones, initially suggesting subclinical hypothyroidism.
  • Genetic analysis revealed a homozygous inactivating mutation in the TSH receptor gene (Pro162Ala).
  • Her son, heterozygous for the mutation, also showed elevated TSH with normal thyroid hormones.

Findings:

  • The proband and her son exhibited compensated TSH resistance due to the homozygous and heterozygous TSH receptor mutations, respectively.
  • After two years, the proband's TSH levels significantly increased, with free thyroid hormones at the lower limit of normal.

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  • The proband developed positive thyroid antibodies and a hypoechogenic thyroid pattern, indicating chronic autoimmune thyroiditis.

    • Implications:

    • This case highlights the first documented instance of compensated TSH resistance progressing to mild hypothyroidism.
    • The development of autoimmune thyroiditis in the context of TSH resistance suggests a complex interplay between genetic predisposition and immune factors.
    • Understanding TSH receptor mutations is crucial for diagnosing and managing thyroid dysfunction.