47 citations
,
February 2015 in “European Journal of Clinical Investigation” 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.
December 2016 in “Springer eBooks” This review examines the clinical features, causes, diagnosis, and treatment of Chrousos syndrome but reports no new experimental findings on this condition.
November 2022 in “Journal of the Endocrine Society” This case report suggests that genetic evaluation for glucocorticoid resistance, such as the NR3C1 gene variant, is crucial for proper diagnosis and management of patients showing atypical signs of hypercortisolism.
62 citations
,
August 2014 in “BMC Endocrine Disorders” This review summarizes the recent advances in molecular mechanisms influencing tissue sensitivity to glucocorticoids, emphasizing novel mutations and new information on the glucocorticoid receptor's circadian rhythm and ligand-induced repression, but reports no new results.
9 citations
,
February 2013 in “Hormone and Metabolic Research” This study reported that CYP21A2 heterozygous mutations do not significantly contribute to the pathogenesis of polycystic ovary syndrome.