TLDR The conclusion is that genetic changes in the glucocorticoid receptor can lead to conditions affecting stress response, immunity, and metabolism, requiring personalized treatment.
The document reviews the conditions of Primary Generalized Glucocorticoid Resistance (PGGR) and Primary Generalized Glucocorticoid Hypersensitivity (PGGH), which are caused by mutations or polymorphisms in the human glucocorticoid receptor (hGR) gene. These genetic alterations affect the body's sensitivity to glucocorticoids, leading to various clinical symptoms and influencing biological processes such as stress response, immune function, and metabolism. The review discusses molecular studies used for diagnosis, clinical manifestations, and treatment approaches, highlighting the importance of personalized dosing in glucocorticoid therapy due to interindividual variations in glucocorticoid sensitivity. The document does not provide specific numbers of people involved in studies, as it is a literature review summarizing expert knowledge up to May 2011.
91 citations
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May 2005 in “The Journal of Clinical Endocrinology & Metabolism” A new mutation in the human glucocorticoid receptor reduces its function and causes resistance to glucocorticoids.
94 citations
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April 2002 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” A new gene mutation causes female pseudohermaphroditism due to glucocorticoid resistance.
December 2016 in “Springer eBooks” Chrousos Syndrome is caused by mutations that make the body less sensitive to glucocorticoids, leading to various symptoms and requiring high-dose treatment.
15 citations
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July 2017 in “Hormones” Genetic defects in the glucocorticoid receptor gene can cause conditions with abnormal sensitivity to stress hormones, and other factors may also affect this sensitivity.
62 citations
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August 2014 in “BMC Endocrine Disorders” New findings explain how genetic changes, body clocks, and certain molecules affect tissue response to stress hormones.
15 citations
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April 2016 in “Hormones” Mutations in the NR3C1 gene cause a rare condition that affects hormone signaling and can lead to various symptoms, with dexamethasone as a treatment option.
47 citations
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February 2015 in “European Journal of Clinical Investigation” The review suggests thorough evaluation and genetic testing for proper diagnosis and treatment of Chrousos syndrome.
