Thyroid hormone resistance

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Thyroid Hormone Resistance

Thyroid hormone resistance (pronunciation: thy-roid hor-mone re-sis-tance) is a rare, inherited syndrome where the thyroid gland is unresponsive to thyroid hormones.

Etymology

The term "thyroid" comes from the Greek word "thyreos", meaning "shield", due to the gland's shape. "Hormone" is derived from the Greek word "hormon", meaning "to set in motion". "Resistance" comes from the Latin word "resistentia", meaning "to resist".

Definition

Thyroid hormone resistance is characterized by elevated levels of circulating thyroid hormones (particularly T3 and T4) and an unsuppressed TSH (thyrotropin) level. Despite the high levels of thyroid hormones, the body's response is often normal due to a reduced sensitivity to these hormones.

Symptoms

Symptoms of thyroid hormone resistance can vary greatly, ranging from no apparent symptoms (asymptomatic) to severe manifestations of hyperthyroidism. Some common symptoms include goiter, tachycardia, and hyperactivity.

Causes

Thyroid hormone resistance is most commonly caused by mutations in the THRB gene, which provides instructions for making a protein involved in normal thyroid function.

Diagnosis

Diagnosis of thyroid hormone resistance is often made based on clinical symptoms, blood tests showing elevated thyroid hormone levels with unsuppressed or elevated TSH, and genetic testing confirming a mutation in the THRB gene.

Treatment

Treatment for thyroid hormone resistance is typically aimed at managing symptoms and may include the use of beta-blockers or thyroid hormone replacement therapy.

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