TY - JOUR AU - Narvaez-Manjarrez, Polo AU - Yupanqui-Lozno, Hernan AU - Rivera Hernandez, Lia Marcela AU - Veronesi Zuluaga, Luz Amaya AU - Jimenez Canizales, Carlos Eduardo PY - 2022/03/02 Y2 - 2024/03/29 TI - 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. JF - Revista Colombiana de EndocrinologĂ­a, Diabetes & Metabolismo JA - Rev.ACE VL - 9 IS - 2 SE - Residents' Notes DO - 10.53853/encr.9.2.686 UR - https://revistaendocrino.org/index.php/rcedm/article/view/686 SP - AB - <p>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.</p> ER -