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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).
Short overview of thyroid homeostasis. [1]The hypothalamic–pituitary–thyroid axis (HPT axis for short, a.k.a. thyroid homeostasis or thyrotropic feedback control) is part of the neuroendocrine system responsible for the regulation of metabolism and also responds to stress.
Thyroid disease is a medical condition that affects the structure and/or function of the thyroid gland.The thyroid gland is located at the front of the neck and produces thyroid hormones [1] that travel through the blood to help regulate many other organs, meaning that it is an endocrine organ.
Hoffmann syndrome is a rare form of hypothyroid myopathy and is not to be confused with Werdnig-Hoffmann disease (a type of spinal muscular atrophy). It was first documented in 1897 by Johann Hoffmann. [1] It has adult-onset symptoms and is comparable to the childhood-onset Kocher–Debré–Semelaigne syndrome.
As lymphocytic infiltration progresses, patients may exhibit signs of hypothyroidism in multiple bodily systems, including, but not limited to, a larger goiter, weight gain, cold intolerance, fatigue, myxedema, constipation, menstrual disturbances, pale or dry skin, and dry, brittle hair, depression, and ataxia.
Iodine deficiency is a lack of the trace element iodine, an essential nutrient in the diet.It may result in metabolic problems such as goiter, sometimes as an endemic goiter as well as congenital iodine deficiency syndrome due to untreated congenital hypothyroidism, which results in developmental delays and other health problems.
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