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The syndrome can present with variable symptoms, even between members of the same family harboring the same mutation. [1] Typically most or all tissues are resistant to thyroid hormone, so despite raised measures of serum thyroid hormone the individual may appear euthyroid (have no symptoms of over- or underactivity of the thyroid gland).
Thyroid function tests (TFTs) is a collective term for blood tests used to check the function of the thyroid. [1] TFTs may be requested if a patient is thought to suffer from hyperthyroidism (overactive thyroid) or hypothyroidism (underactive thyroid), or to monitor the effectiveness of either thyroid-suppression or hormone replacement therapy.
In areas where iodine-deficiency is not found, the most common type of hypothyroidism is an autoimmune subtype called Hashimoto's thyroiditis, with a prevalence of 1-2%. [40] As for hyperthyroidism, Graves' disease, another autoimmune condition, is the most common type with a prevalence of 0.5% in males and 3% in females. [41]
Hashimoto's thyroiditis, also known as chronic lymphocytic thyroiditis, Hashimoto's disease and autoimmune thyroiditis, is an autoimmune disease in which the thyroid gland is gradually destroyed. [7] [1] Early on, symptoms may not be noticed. [3] Over time, the thyroid may enlarge, forming a painless goiter. [3]
In children, late blood sampling at 60 to 120 minutes is necessary. An increase in the serum TSH level following TRH administration means that the cause of the hypothyroidism is in the hypothalamus (tertiary hypothyroidism), i.e. the hypothalamus is not producing TRH. Therefore, when TRH is given exogenously, TSH levels increase.
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Another study demonstrated the TSH index to inversely correlate to thyroid's secretory capacity and thyroid volume. [26] It is unclear if this finding reflects shortcomings of the index (i.e. low specificity in the setting of subclinical hypothyroidism) or plastic responses of the pituitary gland to beginning hypothyroidism. [citation needed]
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