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Hormone-Resistance Syndromes

Thyroid Resistance Syndromes are predominantly an inherited condition that occurs in 1 out of every 40,000 births*. It affects men and women equally, and can be discovered at any age. This condition is the result of the body’s tissue is resistant to the effects of thyroid hormone as the pituitary gland fails to respond to the thyroid hormone, specifically the thyroxine and triiodothyronine hormones. Consequently, the body may overproduce thyroid hormone, with no improved effect on the pituitary, which leads to the swelling or enlargement of the thyroid gland itself (goiter).

Patients with this syndrome may present with symptoms of both hypothyroidism (underactive thyroid) and hyperthyroidism (overactive thyroid).

Symptoms of hormone resistance can vary depending on the severity of abnormality. Individuals may have no symptoms at all and have the ability to fix the abnormality by increasing the amount of thyroid hormones they produce. Due to fluctuating symptomatic presentations, patients are often misdiagnosed if their doctor is unfamiliar with the condition. This is not only emotionally and physically draining for patients as their symptoms do not improve, but they can also lead to incorrect treatment that worsens their condition such as radioactive iodine ablation.

Thyroid Resistance Syndromes can be correctly diagnosed based on abnormal lab work completed on the thyroid hormone. In patients with thyroid resistance, their blood levels of the thyroid hormone are elevated because the pituitary gland is not responding to the thyroid hormone. Treatment will depend on whether the patient has an underactive or overactive thyroid.

Ask a specialist at Holtorf Medical Group to learn more about the steps you can take towards treating this syndrome.


Resources

Thyroid Hormone Resistance and its Management - ncbi.nlm.nih.gov

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