Thyroid hormone resistance
Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
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| Thyroid hormone resistance | |
|---|---|
| |
| Synonyms | Resistance to thyroid hormone (RTH) |
| Pronounce | N/A |
| Specialty | N/A |
| Symptoms | Goiter, tachycardia, hearing loss, ADHD |
| Complications | Heart failure, osteoporosis |
| Onset | Congenital |
| Duration | Lifelong |
| Types | N/A |
| Causes | Genetic mutation in the thyroid hormone receptor |
| Risks | Family history of thyroid hormone resistance |
| Diagnosis | Blood tests showing elevated thyroid hormone levels with normal or elevated thyroid-stimulating hormone (TSH) |
| Differential diagnosis | Hyperthyroidism, hypothyroidism, pituitary adenoma |
| Prevention | N/A |
| Treatment | Beta blockers, thyroid hormone analogs |
| Medication | Levothyroxine, triiodothyronine |
| Prognosis | N/A |
| Frequency | Rare |
| Deaths | Rarely directly causes death |
Thyroid hormone resistance is a rare condition characterized by a reduced responsiveness of the body's tissues to thyroid hormones. This condition can lead to a variety of clinical manifestations, depending on the degree of resistance and the tissues affected. It is often inherited in an autosomal dominant pattern.
Pathophysiology[edit | edit source]
Thyroid hormone resistance is primarily caused by mutations in the thyroid hormone receptor beta (THRB) gene. These mutations impair the receptor's ability to bind to thyroid hormones, such as triiodothyronine (T3) and thyroxine (T4), leading to altered feedback mechanisms and variable tissue responses.
Clinical Features[edit | edit source]
Patients with thyroid hormone resistance may present with a wide range of symptoms. Common features include elevated levels of circulating thyroid hormones with normal or slightly elevated thyroid-stimulating hormone (TSH) levels. Symptoms can vary from hyperthyroidism to hypothyroidism, depending on the tissue-specific expression of the receptor.
Diagnosis[edit | edit source]
The diagnosis of thyroid hormone resistance is based on clinical evaluation, laboratory tests showing elevated T3 and T4 with non-suppressed TSH, and genetic testing to identify mutations in the THRB gene. Differential diagnosis includes pituitary resistance to thyroid hormone and other causes of altered thyroid function tests.
Management[edit | edit source]
Management of thyroid hormone resistance is challenging and often requires a multidisciplinary approach. Treatment is usually symptomatic and may involve the use of beta-blockers to manage symptoms of hyperthyroidism. In some cases, high doses of thyroid hormone may be used to overcome the resistance.
Prognosis[edit | edit source]
The prognosis for individuals with thyroid hormone resistance varies. Many patients lead normal lives with appropriate management, although some may experience complications related to altered metabolic states.
See also[edit | edit source]
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Contributors: Prab R. Tumpati, MD
