47 citations
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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.
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.
88 citations
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April 2017 in “Journal of Pediatric and Adolescent Gynecology” This review discusses the pathophysiology, diagnosis, and treatment of congenital adrenal hyperplasia, but reports no new research results.
November 2024 in “Frontiers in Endocrinology” This study used a novel extraction method to detect and measure mineralocorticoids and glucocorticoids in hair follicles, concluding these steroids may serve as effective biomarkers for diagnosing conditions related to steroid excess or deficiency, such as Cushing’s syndrome and congenital adrenal hyperplasia.
38 citations
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January 2014 in “International Journal of Endocrinology” This review highlights that children with adrenal disorders may experience neurological and psychiatric symptoms, with potential long-term cognitive and behavioral effects from excess glucocorticoids.