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Sporadic Congenital Hyperthyroidism due to a Germline Mutation in the Thyrotropin Receptor Gene (Leu 512 Gln) in a Japanese Patient

1 Jan 2006

Abstract excerpt

Constitutively activating thyrotropin receptor (TSHR) germline mutations have been identified as a molecular cause of congenital hyperthyroidism. We here describe a Japanese woman who had presented with severe hyperthyroidism and advanced bone age as a neonate. She underwent neurosurgical intervention for craniosynostosis, and presented with perodactylia and mild mental retardation with hydrocephalus....

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PMID: 16960398
DOI: 10.1507/endocrj.k06-090

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