Disorders Linked to Insufficient Androgen Action in Male Children

    Charles Sultan, Florentin Paris, Béatrice Térouanne, Patrick Balaguer, Virginie Georget, Nicolas Poujol, Claire Jeandel, Serge Lumbroso, Jean‐Claude Nicolas
    TLDR Male children's genital development issues can be caused by genetic mutations or environmental factors affecting hormone action.
    The document discussed disorders in male children linked to insufficient androgen action, focusing on the roles of testosterone, dihydrotestosterone (DHT), and the androgen receptor (AR). It highlighted that mutations in the 5α-reductase type 2 (5αR-2) gene or AR gene, as well as environmental endocrine disruptors, could impair androgen action, leading to conditions like hypospadias, cryptorchidism, and micropenis. The study emphasized the importance of both genetic mutations and environmental factors in these disorders, suggesting that industrial and agricultural chemicals might negatively impact male sexual differentiation. The conclusion called for increased attention to environmental endocrine disruptors that could mimic conditions like steroid 5α-reductase deficiency or partial androgen insensitivity syndrome.
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