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Dyshormonogenetic Goiter

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Dyshormonogenetic goiter is a group of inborn errors of metabolism that result in defects in thyroid hormone synthesis. The prevalence is 1 in 30,000 to 50,000 live births. Reduced level of thyroid hormones leads to a loss of the negative feedback to the pituitary gland, which results in overproduction of the thyroid stimulating hormone (TSH) causing thyroid hyperplasia. The gland is enlarged and multinodular as shown in this photograph. Image courtesy of Dr. Jean-Christophe Fournet, Paris, France; humpath.com; Used with permission

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