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, Meropi Toumba, Charilaos Stylianou, Nicos Skordis, Vassos Neocleous, Leonidas A. Phylactou
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    TLDR A new mutation in the CYP11B1 gene was found in a woman with mild hyperandrogenemia, a rare cause of non-classic congenital adrenal hyperplasia.
    In 2016, a study was conducted on 75 Greek-Cypriot female patients with mild hyperandrogenemia, a symptom of non-classic congenital adrenal hyperplasia (NC-CAH). The researchers screened for mutations in the CYP21A2 and CYP11B1 genes, which are associated with NC-CAH. They found that 23 patients (30.66%) had a mutation in the CYP21A2 gene, while the remaining 52 (69.33%) did not. Additionally, a novel mutation in the CYP11B1 gene, p.Val484Asp, was identified in one patient. This mutation was found to cause structural changes leading to partial impairment of enzymatic activity. The study concluded that while CYP21A2 gene mutations are the most common in NC-CAH, CYP11B1 mutations are a rare cause of the disorder.
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