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11th European Congress of Endocrinology


Addison's disease from genetics to clinical outcome

ea0020s9.1 | Addison's disease from genetics to clinical outcome | ECE2009

Addison’s disease: natural history and long-term outcome

Allolio Bruno

Primary adrenal insufficiency was first described in 1855 by Thomas Addison, demonstrating that the adrenal cortex is essential for life. Life-saving glucocorticoid replacement became widely available only with the clinical introduction of cortisone in 1949. Chronic primary adrenal insufficiency (PAI) has a prevalence of 93–140 per million and its incidence is rising due to an increase in autoimmune adrenalitis. In developing countries tuberculosis is still a leading caus...

ea0020s9.2 | Addison's disease from genetics to clinical outcome | ECE2009

Genetics of autoimmune Addison’s disease

Pearce Simon

Autoimmune Addison’s disease (AAD) can be divided into two distinct genetic aetiologies. The childhood onset type 1 polyendocrinopathy (aka APECED) syndrome is a monogenic autosomal recessive trait. Whereas the common-or-garden AAD that may be found as an isolated endocrinopathy, or in association with thyroid disease or type 1 diabetes as part of the autoimmune polyendocrinopathy type 2 syndrome (APS2). Isolated AAD (IAD) and APS2 can be considered as very similar from t...

ea0020s9.3 | Addison's disease from genetics to clinical outcome | ECE2009

Early subclinical Addison’s disease

Falorni Alberto

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...

ea0020s9.4 | Addison's disease from genetics to clinical outcome | ECE2009

New ways of delivering glucocorticoids

Ross Richard

Replication of physiology is a basic tenet of endocrinology but this is rarely achieved. We developed a modified-release hydrocortisone to provide circadian cortisol. The adrenal glucocorticoid, cortisol, is an essential stress hormone and its secretion follows a distinct rhythm regulated by the central circadian oscillator in the suprachiasmatic nucleus. Circulating cortisol levels are low at sleep onset, rise between 0200 and 0400 h, peak within an hour of waking and then de...