TY - JOUR
T1 - Congenital hyperthyroidism caused by a mutation in the thyrotropin-receptor gene
AU - Kopp, Peter
AU - Van Sande, Jacqueline
AU - Parma, Jasmine
AU - Duprez, Laurence
AU - Gerber, Hans
AU - Joss, Etienne
AU - Jameson, J. Larry
AU - Dumont, Jacques E.
AU - Vassart, Gilbert
PY - 1995/1/19
Y1 - 1995/1/19
N2 - 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). . .
AB - 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). . .
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U2 - 10.1056/NEJM199501193320304
DO - 10.1056/NEJM199501193320304
M3 - Article
C2 - 7800007
AN - SCOPUS:0028891649
VL - 332
SP - 150
EP - 154
JO - New England Journal of Medicine
JF - New England Journal of Medicine
SN - 0028-4793
IS - 3
ER -