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Related Experiment Videos

Thyroid hormone resistance without mutations in thyroid hormone receptor beta.

Yvonne Bottcher1, Thomas Paufler, Thomas Stehr

  • 1Division of Endocrinology and Nephrology, University of Leipzig, Leipzig, Germany.

Medical Science Monitor : International Medical Journal of Experimental and Clinical Research
|May 31, 2007
PubMed
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Generalized resistance to thyroid hormone (RTH) is a rare condition causing elevated thyroid hormones with normal TSH. Diagnosis is crucial for patients undergoing surgery, even if they appear euthyroid.

Area of Science:

  • Endocrinology
  • Genetics

Background:

  • Resistance to thyroid hormone (RTH) is a rare autosomal dominant disorder characterized by elevated circulating thyroid hormones with normal or elevated TSH.
  • Mutations in the thyroid hormone receptor beta (TR beta) gene are identified in approximately 85% of RTH cases.

Observation:

  • A 68-year-old man with goiter, hypertension, and gout presented for hernia repair.
  • He exhibited elevated free T3 and T4 with unsuppressed TSH, but no overt signs of hyper- or hypothyroidism.

Findings:

  • Generalized RTH was suspected in this clinically euthyroid patient with biochemical evidence of thyroid hormone resistance.
  • TR beta gene mutation analysis is key for diagnosis and family screening.

Implications:

Related Experiment Videos

  • Generalized RTH should be considered in euthyroid patients with elevated thyroid hormones and normal/high TSH.
  • Pre-operative evaluation for thyroid status is essential for patients with RTH undergoing surgery.
  • Absence of TR beta mutations may suggest RTH mosaicism.