Ontology highlight
ABSTRACT:
SUBMITTER: Tatsi C
PROVIDER: S-EPMC7566855 | biostudies-literature | 2020 Mar
REPOSITORIES: biostudies-literature
Tatsi Christina C Flippo Chelsi C Stratakis Constantine A CA
Best practice & research. Clinical endocrinology & metabolism 20200301 2
Cushing syndrome (CS) describes the signs and symptoms caused by exogenous or endogenous hypercortisolemia. Endogenous CS is caused by either ACTH-dependent sources (pituitary or ectopic) or ACTH-independent (adrenal) hypercortisolemia. Several genes are currently known to contribute to the pathogenesis of CS. Germline gene defects, such as MEN1, AIP, PRKAR1A and others, often present in patients with pituitary or adrenal involvement as part of a genetic syndrome. Somatic defects in genes, such ...[more]