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Previous Volume 332:150-154 January 19, 1995 Number 3 Next

	Since this article has no abstract, we have provided an extract of the first 100 words of the full text and any section headings.

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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.^{4,5,6,7,8,9,10,11} 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) protein subunits (G_s. . . [Full Text of this Article]

Case Report

Methods

DNA Sequencing

Expression and Function of the Mutated Receptor

Results

Identification of a Mutation in the Thyrotropin-Receptor Gene

Functional Studies

Discussion

Source Information

From the Department of Internal Medicine and the Laboratory of Endocrinology (P.K., H.G.) and the Clinic of Pediatrics (E.J.), Inselspital, University of Bern, Bern, Switzerland; the Center for Endocrinology, Metabolism, and Molecular Medicine, Northwestern University, Chicago (P.K., J.L.J.); and the Institut de Recherche Interdisciplinaire and Department of Medical Genetics, Faculty of Medicine, University of Brussels, Brussels, Belgium (J.v.S., J.P., L.D., J.E.D., G.V.).

Address reprint requests to Dr. Kopp at the Center for Endocrinology, Metabolism, and Molecular Medicine, Northwestern University, Tarry 15, 303 E. Chicago Ave., Chicago, IL 60611.

References

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