January 2025 in “JCEM Case Reports” This report describes two cases of glucocorticoid resistance syndrome highlighting genetic diversity; one patient improved with low-dose dexamethasone despite negative genetic testing, while the other is monitored with a novel NR3C1 variant.
December 2023 in “JCEM case reports” 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.
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.
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.
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April 2017 in “Hormones” This review discusses the roles of glucocorticoids and glucocorticoid receptors, and it explores potential genetic and non-genetic causes of glucocorticoid resistance or hypersensitivity syndromes, reporting no new clinical results.