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- Thomas P. Foley Jr, MD*
- *Professor of Pediatrics, School of Medicine, Professor of Epidemiology, School of Public Health, University of Pittsburgh, Children’s Hospital of Pittsburgh, Pittsburgh, PA
Objectives
After completing this article, readers should be able to:
Describe the classification and causes of congenital and acquired hypothyroidism during infancy, childhood, and adolescence.
Compare the presenting clinical symptoms and signs of hypothyroidism based on patient age, duration of disease, and cause of hypothyroidism.
Delineate the laboratory tests used in the diagnosis and management of hypothyroidism, and select those tests required for diagnosis and management in children.
Understand the interpretation of laboratory test results related to the thyroid gland and its diseases and the pitfalls that arise from laboratory test results that seem incompatible with specific thyroid diseases.
Characterize the value of one or two tests, the serum thyroid-stimulating hormone (TSH) and free thyroxine (T4), in the diagnosis and management of primary and central hypothyroidism.
Describe the limitations of the analog free T4 test compared with the “gold-standard” direct dialyzable free T4 (DDFT4) test and the importance of using the DDFT4 test to diagnose central hypothyroidism and hypothyroidism for patients who are prescribed specific drugs and diseases that may interfere with thyroid tests.
Delineate the prognosis for patients who have primary and central hypothyroidism and the variable influences that age at diagnosis and duration of disease prior to diagnosis have on outcome.
Definitions
Hypothyroidism is a deficiency in thyroid hormone secretion by the thyroid gland and a reduction of thyroid hormone action at the cellular level. The two major forms in children are: 1) congenital hypothyroidism (CH), a group of diseases that develops at conception or during gestation and is present at birth; and 2) acquired hypothyroidism (AH), diseases that have an onset usually after 6 months of age (Table 1). Two major subcategories are: 1) primary hypothyroidism, a decrease in thyroid hormone secretion caused by a damaged, defective, or absent thyroid gland; and 2) hypothalamic and pituitary hypothyroidism, or central …
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