hrp0092p2-278 | Thyroid | ESPE2019

A 10- Year-Old Girl with Thyroid Hormone Resistance (βTHR)- Case Report

Bossowski Artur , Michalak Justyna , Sawicka Beata , Sanczyk Hanna Borysewicz- , Kolanowska Monika , Kubiak Anna , Jazdzewski Krystian

Introduction: Thyroid hormone resistance (THR) is a rare syndrome which is characterized by reduced response to thyroid hormones at tissue level. The disorder is caused by genetic mutation in the thyroid hormone receptor. The most common are a heterozygous thyroid hormone β (THRβ) gene mutations. Laboratory tests usually show normal or elevated level of thyroid- stimulating hormone (TSH) and high concentration of thyroid hormones (T3 and T4).<p c...