Decreased Androgen Receptor Gene Methylation in Premature Pubarche: A Novel Pathogenetic Mechanism?

    Alessandra Vottero, Marzia Capelletti, Silvia Giuliodori, Isabella Viani, M. Ziveri, Tauro Maria Neri, Sergio Bernasconi, Lucia Ghizzoni
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    TLDR Reduced AR gene methylation may cause early pubic hair growth in girls.
    The study investigated the androgen receptor (AR) gene methylation in 25 girls with premature pubarche (PP), 23 prepubertal children, and 10 girls with Tanner stage II pubertal development. It found that AR gene methylation in peripheral blood leukocytes (PBLs) was significantly lower in PP patients compared to prepubertal children and similar to Tanner stage II girls. Additionally, PP patients exhibited a hair follicle AR methylation pattern similar to Tanner stage II girls. The mean number of CAG repeats was lower in PP patients but within the normal range. The findings suggested that reduced AR gene methylation and shorter CAG repeats might increase hair follicle sensitivity to steroid hormones, leading to premature pubic hair development.
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