Endocrine Abstracts

The novel congenital adrenal hyperplasia variant, ‘apparent’ cortisone reductase deficiency (ACRD), has highlighted the significance of subcellular redox potential in regulating glucocorticoid hormone action. In ACRD, there is an attenuation of perceived glucocorticoid (GC) concentrations which results in up-regulation of adrenal androgen production as a consequence of increased hypothalamic-pituitary-adrenal (HPA) activity. We have recently identified mutations in t...

Glucocorticoids (Gc) act on most cells and tissues, but their effects vary in a cell-type specific manner. A number of genes show divergent responses to glucocorticoid action, dependent on their tissue of origin. One such gene is MIF, a proinflammatory cytokine associated with Gc resistance in inflammation, and linked with susceptibility to chronic, human inflammatory disease. Importantly, MIF gene expression is inhibited by Gc in lymphoblasts, but not in epithelial cells; a f...

Congenital adrenal hyperplasia (CAH) caused by mutations in the electron donor enzyme P450 oxidoreductase (POR) is unique amongst all CAH variants in that it can be associated with ambiguous genitalia (disordered sex differentiation, DSD) both in 46,XX and 46,XY individuals. POR has a pivotal role in facilitating electron transfer from NADPH to microsomal P450 enzymes, including CYP17, which catalyses a key step in human androgen synthesis, the conversion of 17-hydroxypregneno...