Congenital Hyperthyroidism Caused by a Mutation in the Thyrotropin-Receptor Gene

Abstract

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.4–11 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). . . © 1995, Massachusetts Medical Society. All rights reserved.