5A05/E07 Generalised resistance to thyroid hormone

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Aetiology

Generalised resistance to thyroid hormone (GRTH) is a rare, autosomal recessive disorder caused by mutations in the thyroid hormone receptor-beta gene. This gene encodes a receptor that binds to thyroid hormone and is expressed in various tissues throughout the body.

Diagnosis

GRTH is diagnosed through a combination of clinical and laboratory tests. These include serum thyroid hormone levels, thyroid antibodies, thyroid ultrasound and a genetic test for the mutation in the thyroid hormone receptor-beta gene.

Differential diagnosis

GRTH is often confused with other thyroid disorders, such as hypothyroidism and hyperthyroidism. Differentiating between GRTH and these disorders can be difficult, as they may have similar clinical presentations.

Treatment

Treatment for GRTH typically involves a combination of medications and lifestyle changes. These may include hormone replacement therapy, such as levothyroxine or liothyronine, and dietary changes.

Prognosis

The prognosis for GRTH is good, as the condition is usually manageable with the right treatment. If left untreated, however, GRTH can lead to complications such as heart disease, osteoporosis, fertility problems and other thyroid disorders.

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