Endocrine Abstracts

Autoimmune adrenal insufficiency (AAI) is a classic organ-specific autoimmune disease caused by immune-mediated destruction of steroidogenic cells in the adrenal cortex. Autoreactive T cells and autoantibodies targeting the steroidogenic cytochrome P450 enzyme 21-hydroxylase (21OH) are present in the majority of patients. AAI can appear isolated or as part of two forms of autoimmune polyendocrine syndromes, the rare monogeneic autoimmune polyendocrine syndrome type 1 (APS-1) a...

Before the availability of glucocorticoids as drugs, the majority of patients with primary adrenal insufficiency (AI) died within 2 years of diagnosis. Today patients with AI receive life-long replacement therapy with glucocorticoids with the assumption that life expectancy is normal. Recent studies have, however, shown excess mortality in patients with both primary and secondary AI mainly due to cardiovascular diseases and infections. Patients with AI also have increased rate...

Congenital adrenal hyperplasia represents a group of autosomal recessive disorders in steroidogenesis causing deficient cortisol biosynthesis. The incidence of congenital adrenal hyperplasia (CAH) in the general population of Western countries is approximately 1 in 10,000 to 1 in 15,000 life births with about 95% of cases caused by 21-hydroxylase deficiency. After the introduction of replacement therapy with glucocorticoids and mineralocorticoids in the 1950s, congenital adren...