Endocrine Abstracts

Glucocorticoid hormones (Gc) are essential for human life, and synthetic glucocorticoids are widely used to treat inflammatory disease. Glucocorticoid action is mediated by the glucocorticoid receptor (GR).Strong linkage disequilibrium exists across the GR gene (r2=0.9) with, in our study, only 4 haplotypes (from a possible 1024) accounting for 95% of all those observed in UK Caucasian healthy individuals. We identified a 3-marker haplotype, across intro...

The phenotypic similarities between patients with Cushing’s syndrome and obesity have highlighted the potential pathogenic role of glucocorticoids in obesity / metabolic syndrome. However circulating cortisol levels in these conditions are normal. At a tissue specific level, the enzyme 11β-hydroxysteroid dehydrogenase (11β-HSD) controls cortisol availability to the glucocorticoid receptor (GR). In liver and adipose tissue, the type 1 isoform alone is expressed (...

Pituitary-dependent Cushing’s is a rare disease of unknown aetiology that is prone to relapse and damaging to quality of life even in remission. About one half of all patients subjected to primary pituitary surgery are not cured in the long term even in the best hands, and as the routine use of adjuvant radiotherapy has become an increasingly unattractive proposition to clinicians striving to spare their patients’ future complications, pharmacotherapeutic alternative...

In 1981, study of the adrenal findings in 4 cases of Cushing syndrome caused by an unusual bilateral adrenal disorder led to characterization of a unique pathologic condition that was termed primary pigmented nodular adrenal disease (PPNAD). Review of the literature showed that the disorder had occurred in 19 patients, including 6 siblings from 2 families. In 1 family, the disorder occurred in 2 siblings; a third sibling, one without Cushing syndrome, died of cardiac myxoma. T...