Nonclassical GH Insensitivity: Characterization of Mild Abnormalities of GH Action
作者： Helen L Storr , Sumana Chatterjee , Louise A Metherell , Corinne Foley , Ron G Rosenfeld
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摘要: GH insensitivity (GHI) presents in childhood with growth failure and its severe form is associated extreme short stature dysmorphic metabolic abnormalities. In recent years, the clinical, biochemical, genetic characteristics of GHI other overlapping syndromes have rapidly expanded. This can be attributed to advancing techniques a greater awareness this group disorders. We review important spectrum defects, which present phenotypes at milder end continuum. discuss their characteristics. The objective clarify definition, identification, investigation clinically relevant defects. also therapeutic challenges mild GHI.
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