Chrousos Syndrome: From Molecular Pathogenesis to Therapeutic Management

February 2015 in “ European Journal of Clinical Investigation ”

Nicolas C. Nicolaides, Evangelia Charmandari

Chrousos syndrome NR3C1 gene glucocorticoid resistance hyperandrogenism hypertension mineralocorticoid excess androgen excess 24-hour urinary free cortisol excretion glucocorticoids glucocorticoid receptor signal transduction pathway

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.

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