Background: Resistance to thyroid hormone is a rare syndrome characterized by peripheral resistance to thyroid hormones. It is caused by genetic dysfunction of thyroid receptor genes, with Thyroid hormone Receptor-beta (TRβ) being the most prevalent. Affected patients show high thyroid hormone levels and non-suppressed Thyroid-stimulating Hormone (TSH). Syndrome manifestations vary from hyperthyroidism to hypothyroidism depending on the specific mutation.
Case Presentation: We, herein, describe the case of a 24-year-old female with a diagnosis of resistance to thyroid hormone from the age of 7. The main symptoms the patients complained about were headaches, palpitations, hyperidrosis, and frequent evacuations with severe underweight. The patient's blood test showed high FT3 and FT4 levels with a non-suppressed TSH. We performed a disease complications screening that revealed mild osteoporosis and normal cardiac activity (the patient was already treated with bisoprolol).
Conclusion: This case illustrates symptoms and complications of resistance to thyroid hormone syndrome, a rare and misdiagnosed condition. In this case report, we describe and explain longterm disease symptoms and their management. The long-term history of our patient's disease adds a more comprehensive evaluation of the syndrome and its consequences, contributing to new insights into the resistance to thyroid hormone syndrome and shedding light on personalized management of its manifestations.
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