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Related Experiment Videos

Pseudohypopituitary syndromes.

E Heinze, R W Holl

    Bailliere'S Clinical Endocrinology and Metabolism
    |July 1, 1992
    PubMed
    Summary

    Children with short stature and normal or high growth hormone (GH) but low IGF-I may have inactive GH or GH insensitivity. Further research is needed to define specific molecular defects.

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    Area of Science:

    • Pediatric Endocrinology
    • Genetics
    • Molecular Biology

    Background:

    • Short stature in children can present with normal or elevated growth hormone (GH) levels alongside low Insulin-like Growth Factor I (IGF-I) concentrations.
    • This hormonal profile suggests potential underlying issues with GH activity or receptor function.

    Purpose of the Study:

    • To explore the diagnostic possibilities for short stature in children with normal/elevated GH and low IGF-I.
    • To review known causes including modified GH molecules and GH insensitivity syndromes.

    Main Methods:

    • Review of existing literature and case studies.
    • Discussion of diagnostic challenges, including limitations of radioimmunoassay (RIA) versus receptor assays (RRA) and bioassays.
    • Examination of genetic and molecular mechanisms underlying GH insensitivity.

    Main Results:

    • Two primary possibilities exist: biologically inactive GH or GH insensitivity due to receptor/postreceptor abnormalities.
    • Laron-type dwarfism, characterized by absent GH-binding protein, is a known GH insensitivity syndrome.
    • Alterations in GH receptor function have been noted in diverse populations, and IGF resistance is also implicated in some cases.

    Conclusions:

    • Children with short stature, normal/high GH, and low IGF-I may have undiagnosed GH modifications or GH insensitivity.
    • Further investigation into molecular defects and receptor mechanisms is crucial for accurate diagnosis and management.
    • GH insensitivity syndromes and potential IGF resistance represent significant contributors to idiopathic short stature.

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