Talla baja y déficit neurocognitivo leve asociado a resistencia a hormonas tiroideas por mutación de subunidad B del receptor de hormona tiroidea, a propósito de un caso

Fundación Universitaria de Ciencias de la Salud, Bogotá, Colombia. Semillero de Neuroendocrinología-Grupo de Investigación MEDINE – FUCS, Fundación Universitaria de Ciencias de la Salud, Bogotá, Colombia.

https://orcid.org/0000-0002-7825-0363

Carlos Eduardo Jimenez Canizales

Fundación Universitaria de Ciencias de la Salud, Bogotá, Colombia

https://orcid.org/0000-0001-7728-1523

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Keywords

Thyroid Hormone Resistance Syndrome
Thyroid hormone receptor beta
Mutation
Thyroid hormone
Colombia

How to Cite

Narvaez-Manjarrez, P., Yupanqui-Lozno, H., Rivera Hernandez, L. M., Veronesi Zuluaga, L. A., & Jimenez Canizales, C. E. (2022). Short stature and mild neurocognitive deficit associated thyroid hormone resistance syndrome due to mutation of the B subunit of the thyroid hormone receptor, a case report. Revista Colombiana De Endocrinología, Diabetes &Amp; Metabolismo, 9(2). https://doi.org/10.53853/encr.9.2.686

Abstract

Thyroid hormone resistance (THRs) is a rare cause of hypothyroidism with a variable clinical expression, characterized by a low sensitivity of the target tissues to thyroid hormone, with a biochemical profile that shows elevated thyroid hormones and high thyrotropin levels or inappropriately normal. We present the case of a 13-year-old patient with short stature and low neurocognitive development with a thyroid profile with elevated thyroid hormones and an inappropriately normal thyrotropin, for which a central cause was suspected, structural causes were ruled out, and therefore resistance to thyroid hormones and Genetic studies were requested that confirmed the mutation of the ? subunit of the thyroid hormone receptor. Given the neurocognitive compromise, management with triiodothyronine was started.

https://doi.org/10.53853/encr.9.2.686

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References

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