Congenital hyperthyroidism caused by a mutation in the thyrotropin-receptor gene

Peter Kopp, Jacqueline Van Sande, Jasmine Parma, Laurence Duprez, Hans Gerber, Etienne Joss, J. Larry Jameson, Jacques E. Dumont, Gilbert Vassart

Research output: Contribution to journalArticlepeer-review

316 Scopus citations


Congenital hyperthyroidism is rare. Most cases occur in infants born of mothers with a history of Graves' disease.1 The disorder is usually transient in such infants, because it is caused by transplacental passage of maternal thyrotropin-receptor–stimulating autoantibodies that are subsequently cleared.2,3 However, a few neonates with persistent nonautoimmune hyperthyroidism of unknown cause have been described.411 The family history suggested an autosomal dominant disorder in some of these infants.5,12 A molecular basis for autonomous thyroid function has been found in some patients with hyperfunctioning thyroid adenomas. Some of these tumors have somatic mutations in stimulatory G (guanine nucleotide–binding).  . .

Original languageEnglish (US)
Pages (from-to)150-154
Number of pages5
JournalNew England Journal of Medicine
Issue number3
StatePublished - Jan 19 1995
Externally publishedYes

ASJC Scopus subject areas

  • General Medicine


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