[HTML][HTML] Congenital hyperthyroidism caused by a mutation in the thyrotropin-receptor gene
P Kopp, J Van Sande, J Parma, L Duprez… - … England Journal of …, 1995 - Mass Medical Soc
P Kopp, J Van Sande, J Parma, L Duprez, H Gerber, E Joss, JL Jameson, JE Dumont…
New England Journal of Medicine, 1995•Mass Medical SocCongenital 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 …
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 …
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) . . .
The New England Journal Of Medicine