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Health Professionals Guide to Newborn Screening Congenital Hypothyroidism Disorders of the thyroid-hypothalamus-pituitary axis resulting in inadequate production of thyroid hormones. Hypothyroidism is a family of disorders, including endemic cretinism, thyroid agenesis or ectopia, genetic disorders of thyroid hormonogenesis, or hypopituitarism.
COMMENT: TSH increases dramatically shortly after birth and gradually returns to adult normal levels in about 72 hours. False positive results occur due to the specimen being collected at the height of the TSH spike, usually within the first hours of life. Although newborn screening can detect “primary” hypothyroidism with a high degree of accuracy, other forms of hypothyroidism may develop in the weeks after birth. The physician must therefore remain alert to clinical symptoms in older infants despite normal newborn screening results. Perform serum total T4, free T4, and TSH if any doubt exists. Information on treatment centers is also available on this site. For information about other screened disorders, click on the next page button, or follow one of these links:
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