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.
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Thyroid Hormone Resistance Syndrome
Thyroid hormone receptor beta
Thyroid hormone

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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).


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.
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