Chrousos Syndrome: From Molecular Pathogenesis to Therapeutic Management

    Nicolas C. Nicolaides, Evangelia Charmandari
    Studysummary This review discusses Chrousos syndrome, a rare condition caused by NR 3C1 gene mutations leading to glucocorticoid resistance, and reports no new clinical results; early identification and genetic testing are recommended for diagnosis.
    Automatically generated from the study's abstract, not written by a person, and not a review of the full paper. Not medical advice or a treatment recommendation. Read the original study, and consult a qualified healthcare professional before changing treatment. Full disclaimer
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    Research cited in this study 4

    1. Recent Advances in the Molecular Mechanisms Determining Tissue Sensitivity to Glucocorticoids: Novel Mutations, Circadian Rhythm, and Ligand-Induced Repression of the Human Glucocorticoid Receptor BMC Endocrine Disorders · 2014
    2. Primary Generalized Glucocorticoid Resistance And Hypersensitivity Hormone Research in Paediatrics · 2011
    3. A Novel Point Mutation in the Ligand-Binding Domain of the Human Glucocorticoid Receptor Causing Generalized Glucocorticoid Resistance: The Importance of the C Terminus in Conferring Transactivational Activity The Journal of Clinical Endocrinology & Metabolism · 2005
    4. Female Pseudohermaphroditism Caused by a Novel Homozygous Missense Mutation of the GR Gene ˜The œJournal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism · 2002