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Thyroid Hormone Resistance: A Case Report of a Novel Missense Thyroid Hormone Receptor (THR) Mutation

Mst Laizuman Nahar1, Ling Cui2

  • 1Internal Medicine, Mount Sinai South Nassau, Oceanside, USA.

Cureus
|February 17, 2025
PubMed

Insights

Resistance to thyroid hormone (RTH) is a rare genetic disorder caused by thyroid hormone receptor gene mutations. This case highlights a novel mutation in the THR gene, emphasizing the need for comprehensive genetic analysis in RTH diagnosis.

Area of Science:

  • Endocrinology
  • Genetics
  • Molecular Biology

Background:

  • Resistance to thyroid hormone (RTH) is a rare genetic disorder resulting from mutations in thyroid hormone receptor genes (THRA and THRB).
  • It leads to impaired thyroid hormone action, causing variable clinical features of hyperthyroidism, hypothyroidism, or mixed symptoms.

Observation:

  • This report details a unique case of RTH confirmed by genetic analysis.
  • A novel mutation was identified in the thyroid hormone receptor (THR) gene, which was not previously documented in online genetic databases.

Findings:

  • Genetic testing confirmed a mutation in the THR gene, causative of RTH.
  • The identified mutation represents a previously unreported genetic alteration associated with RTH.

Implications:

  • This discovery expands the known spectrum of mutations causing RTH.
  • It underscores the importance of thorough genetic investigation for accurate diagnosis and management of RTH, especially for novel mutations.
Keywords:
hypothyroidthyroid disorderthyroid hormone receptor mutationthyroid receptorthyroid-stimulating hormone (tsh)

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