Endocrine Abstracts

Background: Management of patients with CAH remains challenging. There is increasing evidence to suggest that failure to optimize treatment during childhood not only affects final height but also leads to psychological and psychiatric problems. Previous qualitative structural T2-weighted MRI studies have identified white matter hyper-intensities in up to 46% of CAH patients. The nature and functional relevance of these abnormalities remains unknown.Objec...

11β-hydroxysteroid dehydrogenase type 1 (11β-HSD1) is an NADPH-dependant oxo-reductase located in the sarcoplasmic reticulum (SR) lumen of skeletal muscle. Here it generates active glucocorticoids to regulate permissive and adaptive metabolism, and can mediate the pathological effects of glucocorticoid excess. Hexose-6-phosphate dehydrogenase (H6PD) in the SR interacts with 11β-HSD1 to generate an appropriate NADPH/NADP+ ratio to support activity. H6PD depletion...

Ultradian glucocorticoid (GC) secretion is highly conserved, having been detected in all species studied. The GC corticosterone (CORT) is a ligand for the glucocorticoid receptor (GR), inducing GR recruitment to glucocorticoid responsive elements (GREs) to modulate transcription of GC-target genes. We have previously demonstrated that pulsatile GR recruitment to GREs upstream of the Period1 gene is associated with its pulsatile transcription in rat liver. Similarly th...

Background: Autoimmune Addison disease (AAD) is a rare but highly heritable endocrinopathy. The BACH2 protein plays a crucial role in T lymphocyte maturation, and in particular in regulatory T cell formation, and allelic variation in its gene has been associated with autoimmune conditions such as type 1 diabetes, autoimmune thyroid disease and vitiligo. Its role in susceptibility to autoimmune Addison’s disease (AAD) has not been investigated.Aim: T...

Clinically, glucocorticoids are widely used as a treatment mainly due to their potent anti-inflammatory abilities, however these are associated with several side effects and furthermore some patients go on to develop glucocorticoid resistance. ARID1a mutations have been linked to glucocorticoid resistance and are frequently identified across numerous cancers; therefore it is important to determine the functional role of ARID1a to GR signalling. The ATPase driven SWItch/Sucrose...

Background: Adrenal masses are discovered in 5% of cross-sectional abdominal imaging scans. Work-up aims at exclusion of malignancy and hormone excess. However, estimates of these risks presently derive from retrospective studies only, mostly small and with significant selection bias.Methods: Prospective multi-centre study (2011–2016) in 21 centres (17 countries) of the European Network for the Study of Adrenal Tumours (ENSAT) with consecutive enrol...