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Resistance to Thyroid Hormone and TSH Receptor Mutations

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Pediatric Endocrinology

Part of the book series: Contemporary Endocrinology ((COE))

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Abstract

Resistance to thyroid hormone (RTH) is a syndrome characterized by ­variable tissue hyporesponsiveness to thyroid hormone throughout the body. Classically, patients come to attention for a variety of reasons including goiter, abnormal thyroid function tests (TFTs), or neonatal screening programs. Biochemically, the syndrome is characterized by elevated thyroid hormone values in the setting of non-suppressed thyrotropin (TSH) levels. In most patients, hyporesponsiveness occurs in both the hypothalamic and pituitary as well as peripheral tissues. Resistance in the hypothalamus and pituitary leads to elevated thyrotropin levels, which stimulate the thyroid gland to increase production of thyroid hormone; however, reduced action elsewhere results in (to a greater or lesser degree) compensated thyroid hormone hyporesponsiveness. In contrast, TSH resistance is caused by mutations in the TSH receptor, and is characterized by a range of symptoms, from euthyroid hyperthyrotropinemia to frank hypothyroidism.

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  1. Medicine, University of Chicago, 5841 S Maryland Ave, MC 1027, Chicago, IL, 60637, USA

    Ronald N. Cohen M.D.

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  1. Ronald N. Cohen M.D.
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Correspondence to Ronald N. Cohen M.D. .

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  1. School of Medicine, Department of Pediatrics, The Johns Hopkins University, 600 North Wolfe St., Baltimore, 21287, Maryland, USA

    Sally Radovick

  2. , Department of Pediatrics, Children's Hospital of Buffalo, 219 Bryant St., Buffalo, 14222, New York, USA

    Margaret H. MacGillivray

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Cohen, R.N. (2013). Resistance to Thyroid Hormone and TSH Receptor Mutations. In: Radovick, S., MacGillivray, M. (eds) Pediatric Endocrinology. Contemporary Endocrinology. Humana Press, Totowa, NJ. https://doi.org/10.1007/978-1-60761-395-4_18

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  • DOI: https://doi.org/10.1007/978-1-60761-395-4_18

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