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Previous Volume 332:155-160 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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Hormone-resistance syndromes can be broadly defined as conditions resulting from reduced or absent end-organ responsiveness to biologically active hormones. They are caused by defects in hormone receptors or post-receptor defects.^1,2,3 Mutations in the thyroid hormone–receptor gene cause resistance to thyroid hormone, which is characterized by elevated serum thyroid hormone concentrations with few or no clinical and biochemical manifestations of thyroid hormone excess and, most notably, normal or slightly increased thyrotropin secretion.¹ Mutations that inactivate the thyrotropin receptor or the G (guanine nucleotide–binding) protein that couples the receptor to adenylate cyclase should cause thyrotropin resistance, resulting in either hypothyroidism or euthyroidism . . . [Full Text of this Article]

Case Reports

Methods

Tests of Thyroid Function

Clinical Studies

Preparation of Genomic DNA, RNA, and Complementary DNA and DNA Sequencing

Confirmation of the Mutations and Haplotyping

Construction of Wild-Type and Mutant Thyrotropin-Receptor cDNA Expression Vectors

Functional Studies of the Thyrotropin Receptors in a Transient Transfection System

Results

Discussion

Source Information

From the Departments of Medicine (T.S., Y.H., S.R.) and Pediatrics (S.R.) and the J.P. Kennedy, Jr., Mental Retardation Research Center (S.R.), University of Chicago, and the Department of Pediatrics, Loyola University (M.E.G.) — all in Chicago. Presented in part at the 76th annual meeting of the Endocrine Society, Anaheim, Calif., June 15–18, 1994.

Address reprint requests to Dr. Refetoff at the University of Chicago, MC 3090, 5841 S. Maryland Ave., Chicago, IL 60637.

References

Related Letters:

Congenital Hypothyroidism Caused by Mutations in the Thyrotropin-Receptor Gene
Biebermann H., Grüters A., Schöneberg T., Gudermann T.
Extract | Full Text  
N Engl J Med 1997; 336:1390-1391, May 8, 1997. Correspondence

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