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Androgen resistance syndromes

J E Griffin, M Leshin, J D Wilson

    The American Journal of Physiology
    |August 1, 1982
    PubMed
    Summary
    This summary is machine-generated.

    Hereditary defects in androgen action lead to male urogenital development issues. These conditions, including 5 alpha-reductase deficiency and androgen receptor disorders, create a spectrum of disorders affecting sexual development.

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    Area of Science:

    • Endocrinology
    • Genetics
    • Developmental Biology

    Background:

    • Hereditary defects impairing androgen action cause resistance to androgens during development.
    • These defects result in a spectrum of male urogenital developmental abnormalities, from infertility to ambiguous genitalia or female phenotypes in genetic males.

    Purpose of the Study:

    • To classify disorders of androgen action based on the specific step impeded by mutations.
    • To describe the clinical and genetic characteristics of 5 alpha-reductase deficiency and androgen receptor defects.

    Main Methods:

    • Classification of disorders based on the molecular mechanism of androgen resistance.
    • Review of existing literature on 5 alpha-reductase deficiency and androgen receptor abnormalities.

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    Main Results:

    • 5 alpha-Reductase deficiency, an autosomal recessive disorder, impairs testosterone to dihydrotestosterone conversion, leading to virilization of internal male genitalia but predominantly female external genitalia.
    • Androgen receptor defects, X-linked traits, encompass four phenotypic variants: complete testicular feminization, incomplete testicular feminization, Reifenstein syndrome, and infertile male syndrome.
    • Receptor-positive resistance, with normal enzyme and receptor function, suggests defects in intracellular hormone-receptor complex action.

    Conclusions:

    • Disorders of androgen action can be categorized by the affected step: enzyme deficiency (5 alpha-reductase), receptor defects, or post-receptor defects.
    • These genetic conditions highlight the critical role of androgens and their signaling pathways in male sexual development.