Open AccessThyroid Hormone Resistant Syndrome
Author(s) -
Karo Gyurjian Oms,
Vishwanath Venketaraman
Publication year - 2020
Publication title -
medical journal of southern california clinicians
Language(s) - English
Resource type - Journals
eISSN - 2576-1897
pISSN - 2576-1889
DOI - 10.38206/130101
Subject(s) - thyroid , hormone , medicine , endocrinology , thyroid hormone receptor , thyroid hormone receptor beta , asymptomatic , thyroid stimulating hormone , hormone receptor , cancer , breast cancer
Thyroid hormone resistance (THR), also known as resistance to thyroid hormone (RTH), is an inherited condition characterized by reduced end-organ responsiveness to thyroid hormone, caused by mutations in the thyroid hormone receptor gene. Patients typically present with elevated thyroid hormone levels (T3 and T4) with normal, or slightly elevated thyroid-stimulating hormone (TSH) levels.1 In a majority of cases, the disease is caused by a mutation in the thyroid receptor beta (TR-beta) gene. Patients can present with signs and symptoms of hypothyroidism or hyperthyroidism or can be asymptomatic. We present a case of a 16-year-old male who was referred for endocrinologic evaluation after abnormal findings in the thyroid function panel.