Thyroid hormone resistance syndrome in a 12-year-old girl: clinical case description

• Daria S. Romaykina
• Anna A. Matveeva
• Goar F. Okminyan
• Elena V. Kiseleva
• Lyubov’ N. Samsonova

Abstract

Thyroid hormone resistance syndrome (THRS) is a hereditary syndrome characterized by targeted organ tissue hyposensitivity to thyroid hormones. Clinical variability of THRS is contingent on various mutations (depending on their localization and level of functional activity) and diverse sensitivity of targeted organ tissue to thyroid hormones. In the described medical case THRS was suspected based on the clinical manifestations, lab collected data and confirmed by the molecular genetic testing. Due to various clinical presentations, rare prevalence, low awareness and lack of knowledge on this syndrome, endocrinologists fail to include THRS in differential diagnosis algorithm of thyroid disorders, misinterpret the lab results, which lead to inaccurate treatment strategy and delayed diagnosis.

Keywords:thyroid gland, thyroid hormone resistance syndrome, thyroid hormone receptor gene, THRβ

All articles in our journal are distributed under the Creative Commons Attribution 4.0 International License (CC BY 4.0 license)