Genetic Screening of Non-Classic CAH Females with Hyperandrogenemia Identifies a Novel CYP11B1 Gene Mutation

    April 2016 in “ Hormones ”
    Christos Shammas, Stefania Byrou, Marie M. Phelan … Leonidas A. Phylactou
    Studysummary This study found that CYP21A2 gene mutations are the most common cause of non-classic congenital adrenal hyperplasia, while CYP11B1 mutations are rare and may partially impair enzyme activity.
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    Research cited in this study 1

    1. Epidemiology, Diagnosis, and Management of Hirsutism: A Consensus Statement by the Androgen Excess and Polycystic Ovary Syndrome Society Human reproduction update · 2011