title: [Rare disorders of glucocorticoid production, metabolism and action].
abstract: Glucocorticoids belong to the most important human hormones which are involved in the regulation of a variety of cardiovascular, metabolic and immunologic functions. Because they are necessary to sustain life and maintain homeostasis - adrenal disorders, if not detected in a timely fashion, can have serious consequences. The significant progress in the fields of hormonal assessment, imaging procedures and molecular biology made in recent years has brought about great improvement in the identification, differentiation and treatment of various adrenal disorders and has enabled the description of some new clinical entities. Abnormally high or abnormally low tissue glucocorticoid levels may either coexist with or result in deficiency or excess of mineralocorticoids and/or adrenal androgens. This review summarises the present state of knowledge on the pathogenesis, clinical picture, diagnosis and management of the selected rare disorders of glucocorticoid production, metabolism and their receptor action.
authors.affiliation: Klinika Chorób Wewnetrznych i Farmakologii Klinicznej, Katedry Farmakologii Slaskiego Uniwersytetu Medycznego w Katowicach. r.krysiak@interia.pl
authors.forename: Robert
authors.initials: R
authors.lastname: Krysiak
authors.forename: Iwona
authors.initials: I
authors.lastname: Kobielusz-Gembala
authors.forename: Bogusław
authors.initials: B
authors.lastname: Okopień
mesh_terms: D000307:Adrenal Gland Diseases / Q000175:diagnosis* / Q000378:metabolism / Q000628:therapy*; D005938:Glucocorticoids / Q000096:biosynthesis* / Q000172:deficiency*; D006801:Humans; D035583:Rare Diseases
chemical_list: D005938:Glucocorticoids