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A correction has been published: N Engl J Med 1996;334(18):1207.

Original Article
Brief Report
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Volume 334:432-436 February 15, 1996 Number 7
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Short Stature Caused by a Mutant Growth Hormone
Yutaka Takahashi, M.D., Hidesuke Kaji, M.D., Yasuhiko Okimura, M.D., Katsumi Goji, M.D., Hiromi Abe, M.D., and Kazuo Chihara, M.D.

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The causes of growth hormone–dependent short stature are primary pituitary disease, pituitary deficiency due to hypothalamic dysfunction, and, less often, insensitivity to growth hormone. The prototypical syndrome of growth hormone insensitivity is Laron-type dwarfism, which is characterized by absent or defective growth hormone receptors. Kowarski et al. described two children with growth retardation resulting from biologically inactive growth hormone1; additional cases were reported subsequently.2,3,4,5,6,7 This disorder is characterized by high serum concentrations of immunoreactive growth hormone, low serum concentrations of insulin-like growth factor I (IGF-I), and increases in both serum IGF-I and linear growth after the administration of exogenous . . . [Full Text of this Article]

Case Report

Methods

Hormone Assays

Isoelectric Focusing

Genetic Analysis

RNA Analysis

cDNA Constructs of Wild-Type and Mutant Growth Hormone

Characterization of the Functional Properties of Wild-Type and Mutant Growth Hormone

Results

Discussion


Source Information

From the Third Division, Department of Medicine, Kobe University School of Medicine (Y.T., H.K., Y.O., H.A., K.C.), and the Department of Endocrinology and Metabolism, Kobe Children's Hospital (K.G.) — both in Kobe, Japan.

Address reprint requests to Dr. Takahashi at the Third Division, Department of Medicine, Kobe University School of Medicine, 7-5-1 Kusunoki-cho, Chuo-ku, Kobe, 650, Japan.

References


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