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Congenital Neonatal Hyperthyroidism Caused by Germline Mutations in the TSH Receptor Gene

1 Jan 2008

Abstract excerpt

Neonatal hyperthyroidism, a rare and serious disorder, occurs in two forms. An autoimmune form associated with maternal Graves' disease, resulting from transplacental passage of maternal thyroid-stimulating antibodies, and a non-autoimmune form, resulting from mutations in the stimulatory G protein or the thyrotropin receptor (TSHR) causing constitutive activation of intracellular signaling cascades. To date, 29...

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PMID: 18655531
DOI: 10.1515/jpem.2008.21.5.479

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