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Glucocorticoid resistance and hypersensitivity
Carl D Malchoff1, Diana M Malchoff
1Division of Endocrinology, University of Connecticut Health Center, 263 Farmington Avenue, Farmington, CT 06030, USA. malchoff@nso2.uchc.edu
Endocrinology and Metabolism Clinics of North America
|April 27, 2005
Summary
Mutations in the glucocorticoid receptor alpha gene cause disorders with high cortisol levels, distinct from Cushing's syndrome. Other genetic variations affect specific organ systems, highlighting physiological principles.
Area of Science:
- Endocrinology
- Genetics
- Molecular Biology
Background:
- Glucocorticoid receptor (GR) alpha gene mutations and polymorphisms can lead to various endocrine and systemic disorders.
- These genetic variations impact cortisol levels and receptor function, necessitating accurate diagnosis.
Purpose of the Study:
- To emphasize disorders arising from glucocorticoid receptor alpha gene alterations.
- To differentiate these conditions from Cushing's syndrome based on clinical presentation and treatment.
Main Methods:
- Review of clinical and genetic data related to glucocorticoid receptor alpha gene variations.
- Comparative analysis of clinical features and therapeutic approaches for GR disorders and Cushing's syndrome.
Main Results:
- Disorders associated with GR alpha gene mutations often present with elevated circulating cortisol concentrations.
- Specific organ system-limited clinical features characterize other GR-related disorders.
- Accurate distinction from Cushing's syndrome is crucial due to different treatment strategies.
Conclusions:
- Genetic alterations of the glucocorticoid receptor alpha play a significant role in human health.
- Understanding these disorders is vital for appropriate clinical management and differentiating them from conditions like Cushing's syndrome.