Endocrine Abstracts

The adrenal autoimmune process that causes primary adrenal insufficiency is made evident by the appearance of circulating adrenal autoantibodies directed against the enzyme steroid 21-hydroxylase (21OHAb), in genetically predisposed individuals. Adrenal autoantibodies appear months to years before the appearance of clinical signs of adrenal insufficiency and a pre-clinical phase of the disease can be recognised. Subjects positive for 21OHAb present with a variable degree of pr...

Volume 82, Issue 1, January 2015, Pages 2–11. DOI: 10.1111/cen.12603...

Object: In Addison’s disease hydrocortisone or cortisone have so far been used at doses of 30–37.5 mg/day, respectively, though several studies showed that cortisol normal production is about 5.7 mg/m2 (20–25 mg/day of hydrocortisone or cortisone, respectively). Differently from secondary hypoadrenalism, scanty data exist in patients with Addison’s disease on role of conventional glucocorticoid replacement and metabolic and cardiovascular outcome...

Object: In Addison’s disease (AD), although glucocorticoid (GC) replacement is essential for health and, indeed, life, several studies showed that conventional GCs doses are involved in metabolic and cardiovascular alterations observed in this disease. As the effects of GCs are mediated by the glucocorticoid receptor (GR), encoded by NR3C1 gene, different polymorphisms in the NR3C1 gene have been linked to altered glucocorticoid sensitivity in general population as well a...

Objective: Interindividual variation in glucocorticoid sensitivity can be partly explained by polymorphisms in the GC receptor gene. The most frequent polymorphisms of the GR gene (N363S and BclI) are associated with increased BMI, less lean mass, higher cholesterol and insulin levels. In the present study we investigated the role of the N363S and the BclI polymorphisms in patients with adrenal disease to evaluate their prevalence and the possible clinic and hormone correlatio...

Autoimmune Addison’s disease (AAD) is a rare, highly heritable endocrinopathy with an estimated λsibling (ratio of risk to a sibling vs the unrelated background population) of 160–210. The majority of the genetic risk to AAD has yet to be accounted for. We have used a tag-SNP approach to seek association between single nucleotide polymorphisms (SNPs) in the GATA3 gene and autoimmune Addison’s disease (AAD). 2001 AAD cases and 1898 controls were included in ...