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[Connatal endocrine disorders caused by receptor defects]

K Kruse

    Klinische Padiatrie
    |November 1, 1982
    PubMed

    Insights

    Hormone resistance, where the body doesn't respond to hormones, can be genetic or acquired. These conditions, like pseudohypoparathyroidism, involve hormone systems with normal or high hormone secretion but low function.

    Area of Science:

    • Endocrinology
    • Genetics
    • Molecular Biology

    Context:

    • Hormone resistance, first described in 1942, affects various endocrine systems.
    • Diseases include pseudohypoparathyroidism, impacting multiple hormone pathways.
    • Conditions can be congenital or acquired, with varying degrees of hormone unresponsiveness.

    Purpose:

    • To review hormone resistance and unresponsiveness syndromes.
    • To highlight the role of receptor defects in congenital endocrinopathies.
    • To discuss the characteristics of hormone resistance.

    Summary:

    • Hormone resistance involves unresponsiveness to peptide, steroid, and thyroid hormones.
    • Characterized by hypofunction despite normal or elevated hormone levels.
    • Pseudohypoparathyroidism type I exemplifies multi-systemic hormone resistance.

    Impact:

    • Advances understanding of endocrine disorders.
    • Provides insights into genetic and acquired hormone resistance mechanisms.
    • Informs diagnosis and potential therapeutic strategies for hormone unresponsiveness.

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