Thyroid dyshormonogenesis

Thyroid Dyshormonogenesis

Thyroid dyshormonogenesis (pronounced: thy-roid dys-hor-mo-no-gen-e-sis) is a type of congenital hypothyroidism that is caused by an inborn error in the thyroid hormone biosynthesis process.

Etymology

The term "thyroid dyshormonogenesis" is derived from three parts: "thyroid" referring to the thyroid gland, "dys-" a prefix from Greek meaning bad or difficult, and "hormonogenesis" meaning the production of hormones.

Definition

Thyroid dyshormonogenesis is a condition characterized by the thyroid gland's inability to produce sufficient amounts of thyroid hormone. This condition is usually inherited and can lead to a variety of health problems, including intellectual disability, growth retardation, and hearing loss if not treated early.

Causes

Thyroid dyshormonogenesis is caused by mutations in several genes that are involved in the production of thyroid hormones. These include the thyroglobulin (TG), thyroid peroxidase (TPO), iodotyrosine deiodinase (IYD), and sodium-iodide symporter (NIS) genes.

Symptoms

Symptoms of thyroid dyshormonogenesis can vary greatly depending on the severity of the condition. Common symptoms include fatigue, weight gain, cold intolerance, constipation, dry skin, and depression.

Treatment

Treatment for thyroid dyshormonogenesis typically involves lifelong thyroid hormone replacement therapy. This usually involves taking a daily dose of synthetic thyroxine (T4).

Related Terms

External links

Medical encyclopedia article on Thyroid dyshormonogenesis
Wikipedia's article - Thyroid dyshormonogenesis

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Thyroid dyshormonogenesis