[Association of the structure of the glucocorticoid receptor and single nucleotide gene polymorphisms with metabolic disorders].

Glucocorticoid therapy is widely used in the treatment of various pathologies. Sensitivity to glucocorticoids  (GC) has a serious impact not only on the effectiveness of their action, but also on the severity of side effects, the formation of risk factors and the development  of cardiovascular diseases (CVD). Variability of sensitivity to GC causes different phenotypes and severity of metabolic disorders underlying  CVD.

[Allgrove syndrome: how to suspect the problem? Endocrinologists experience].

Allgrove syndrome (Alacrimia, Achalasia, Adrenal insufficiency, AAAS) is a rare autosomal recessive multisystem disease characterized by chronic adrenal insufficiency, alacrimia and achalasia of the cardia. This disease is often associated with various neurological disorders, amyotrophy, in such cases, it is named 4A and 5A syndrome, but sometimes there is also 2A syndrom. The occurrence of the disease is due to a mutation in the gene AAAS (12q13), which encodes the protein ALADIN.