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DOI: 10.1055/s-2007-980196
© Georg Thieme Verlag KG Stuttgart · New York
Novel Causes of Generalized Glucocorticoid Resistance
Publikationsverlauf
received 23. 10. 2006
accepted 9. 11. 2006
Publikationsdatum:
18. Juni 2007 (online)
![](https://www.thieme-connect.de/media/hmr/200706/lookinside/thumbnails/10.1055-s-2007-980196-1.jpg)
Abstract
Glucocorticoid resistance is a rare condition characterized by generalized, partial, target-tissue insensitivity to glucocorticoids. Compensatory elevations in circulating adrenocorticotropic hormone (ACTH) concentrations lead to increased secretion of cortisol and adrenal steroids with mineralocorticoid and/or androgenic activity, but no clinical evidence of hypercortisolism. The clinical spectrum of the condition is broad, ranging from asymptomatic to severe cases of hyperandrogenism, fatigue and/or mineralocorticoid excess. The molecular basis of glucocorticoid resistance has been ascribed to mutations in the human glucocorticoid receptor (hGR) gene, which impair glucocorticoid signal transduction, thereby altering tissue sensitivity to glucocorticoids. The study of functional defects of natural hGR mutants enhances our understanding of the molecular mechanisms of hGR action and highlights the importance of integrated cellular and molecular signaling mechanisms for maintaining homeostasis and preserving normal physiology.
Key words
Glucocorticoid receptor (GR) - glucocorticoid resistance - mutations - human glucocorticoid receptor (hGR) gene
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Poster presentation at the 88th Endocrine Society Annual Meeting . 2006 Boston, Massachusetts, USA
Correspondence
E. CharmandariMD
Consultant Pediatric and Adolescent Endocrinologist
Level B, Room 134
Clarendon Wing
Leeds General Infirmary
Belmont Grove
Leeds LS2 9NS
UK
Telefon: +44/113/392 37 00
Fax: +44/113/392 32 25
eMail: evangelia.charmandari@googlemail.com