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Article

Sporadic Nonautoimmune Congenital Hyperthyroidism due to a Strong Activating Mutation of the Thyrotropin Receptor Gene

1 Oct 2000

Abstract excerpt

The de novo occurrence of germline-activating thyrotropin receptor (TSHR) gene mutations has been reported as the cause of sporadic nonautoimmune neonatal hyperthyroidism in eight children. We report the case of an Italian infant girl who presented at birth with severe hyperthyroidism and goiter. Ultrasonografic examination of the infant's thyroid showed a diffuse goiter with a normal echogenic pattern. Serum...

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PMID: 11081252
DOI: 10.1089/thy.2000.10.859

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