Unreported variant of the THRB gene in a patient with resistance to thyroid hormone
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Thyroid Hormones
Thyroid Hormone Resistance Syndrome
Genetic Counseling
Thyroid hormone beta receptor

How to Cite

Builes Montaño, C. E., Arroyo Ripoll, O. F., & Contreras Saldarriaga, J. E. (2024). Unreported variant of the THRB gene in a patient with resistance to thyroid hormone. Revista Colombiana De Endocrinología, Diabetes &Amp; Metabolismo, 11(2). https://doi.org/10.53853/encr.11.2.846


Introduction: Variants in the beta thyroid hormone receptor gene are the main cause of thyroid hormone resistance syndrome. The inheritance is autosomal dominant and is characterized by decreased sensitivity of tissues to thyroid hormones. The clinical manifestations are variable with symptoms of hyperthyroidism or hypothyroidism.

Purpose: To document a potentially pathogenic genetic variant of the thyroid hormone receptor beta gene related to RHT syndrome not reported in the literature and provide information on the diagnostic approach.

Case presentation: A 43-year-old man presented with symptoms of hyperthyroidism and who was found to have persistently elevated free T4 levels with an inappropriately normal TSH. Simple and contrast-enhanced magnetic resonance imaging of the sella turca showed a pituitary gland without lesions. A TRH stimulation test was performed, obtaining an adequate response indicating a presumptive diagnosis of THR. The genetic study revealed a variant c.1046_1047insCCTGGT(p.Val349_Ser350insLeuVal) in the THRB gene, the bioinformatic analysis of the protein was carried out, indicating that it was pathogenic with a confidence of 89.4%.

Discussion: The diagnostic suspicion is given by the discrepancy in the values of thyrotropin, thyroxine and triiodothyronine. A complete diagnostic approach must be carried out, ruling out interference in the tests, abnormalities in the transport of thyroid hormones and thyrotropinoma; The TRH stimulus test guides the diagnosis and the genetic test its confirmation.

Conclusion: We report a new mutation related to the thyroid hormone resistance syndrome phenotype. This case demonstrates the importance of emphasizing genetic evaluation.

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