Primary Generalized Glucocorticoid Resistance And Hypersensitivity

January 2011 in “ Hormone Research in Paediatrics ”

Evangelia Charmandari

glucocorticoid resistance glucocorticoid hypersensitivity glucocorticoid receptor glucocorticoids stress response immune function metabolism personalized dosing glucocorticoid therapy cortisol steroids

Studysummary This review discusses the molecular basis and clinical implications of primary generalized glucocorticoid resistance and hypersensitivity, attributing them to mutations in the human glucocorticoid receptor gene, and reports no new clinical findings.

Our plain-language summary. Not medical advice or a treatment recommendation. Consult a qualified healthcare professional before changing treatment. Full disclaimer

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.

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A Novel Point Mutation in the Ligand-Binding Domain of the Human Glucocorticoid Receptor Causing Generalized Glucocorticoid Resistance: The Importance of the C Terminus in Conferring Transactivational Activity

research A Novel Point Mutation in the Ligand-Binding Domain of the Human Glucocorticoid Receptor Causing Generalized Glucocorticoid Resistance: The Importance of the C Terminus in Conferring Transactivational Activity

91 citations , May 2005 in “The Journal of Clinical Endocrinology & Metabolism”

In this study, a novel mutation in the glucocorticoid receptor gene was identified in a young woman, impairing glucocorticoid signaling and leading to generalized glucocorticoid resistance.

research Female Pseudohermaphroditism Caused by a Novel Homozygous Missense Mutation of the GR Gene

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This study describes the first case of female pseudohermaphroditism due to a novel homozygous glucocorticoid receptor gene mutation, indicating possible pre- and postnatal virilization in affected females.