The causes of growth hormonedependent short stature areprimary pituitary disease, pituitary deficiency due to hypothalamicdysfunction, and, less often, insensitivity to growth hormone.The prototypical syndrome of growth hormone insensitivity isLaron-type dwarfism, which is characterized by absent or defectivegrowth hormone receptors. Kowarski et al. described two childrenwith growth retardation resulting from biologically inactivegrowth hormone1; additional cases were reported subsequently.2,3,4,5,6,7This disorder is characterized by high serum concentrationsof immunoreactive growth hormone, low serum concentrations ofinsulin-like growth factor I (IGF-I), and increases in bothserum 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.
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