Genetic defects in alpha receptor have normal thyroid hormone levels. They found this by screening many people as they did not know what to look for. Cardiovascular problems are common, so this could not have been used as a screening tool for someone with alpha receptor defects. The hypathalmic-pituitary-thyroid hormone pathway is very sensitive to hormone defects. T4 is the most abundant hormone in the blood, however T3 is the biologically active form. T4 is transported actively across the cell membrane into the cytoplasm and the receptor is already bound to DNA in the un-liganded form. The symptoms of thyroid disease are variable; two people with this disease are likely to have very little symptom overlap.
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