The Glucocorticoid Resistance Syndrome: Two Cases of a Novel Pathogenic Variant in the Glucocorticoid Receptor Gene

    December 2023 in “ JCEM case reports
    Sílvia Mauri, Javier Nieto‐Moragas, María Obón, Josep Oriola
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    Studysummary In this study, researchers identified a novel genetic variant in the NR3C1 gene in a mother and her son that predicts a truncated protein, leading to glucocorticoid resistance syndrome with mild hyperandrogenic features, although no clear genotype-phenotype correlation has been established.
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