Generalized Resistance to Thyroid Hormone

Overview

Type of disease: Rare conditions

Generalized resistance to thyroid hormone is a rare syndrome that affects the thyroid. The thyroid is a gland found in the front of the neck. It secretes chemicals called hormones that control activities of certain cells and organs. In this disorder, the amount of the hormones in the thyroid are increased. This is because the pituitary gland, which controls hormone secretion from the thyroid, is not properly shut off. This causes the thyroid to keep producing hormones in excess. While some individuals with this condition have no symptoms at all, some might show symptoms such as raised cholesterol, feeling tired, gaining weight, having a fast heart rate, and the most common symptom, an enlarged thyroid gland due to the buildup of hormones. In children that are affected, common symptoms include difficulty growing, ear, nose, and throat infections, learning problems, and hearing loss.

This disorder is mainly diagnosed through a blood test and is inherited either recessively or dominantly depending on the case. Everyone has two copies of every gene, one from their mother and one from their father. In dominant inheritance, only one changed copy of the gene is needed. If the disorder is passed on recessively, then two changed genes, one from each parent, are needed for the child to develop the condition.

Diagnosis of this condition begins with a blood test to look at levels of the thyroid hormones, and if they are abnormal, further testing may be done in order to determine if the patient has generalized resistance to thyroid hormone. Treatment can include drugs to try to get the levels of thyroid hormone back to normal, drugs to mimic the effect of thyroid hormone in the body, and drugs to try to slow the heart rate in patients with this symptom. If you or a family member has been diagnosed with generalized resistance to thyroid hormone, talk with your doctor about the most current treatment options.

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