title: Diagnosis and Clinical Genetics of Cushing Syndrome in Pediatrics.
abstract: Endogenous Cushing syndrome (CS) in pediatrics is rare; it may be caused by tumors that produce corticotropin in the pituitary gland or elsewhere, tumors that produce corticotropin-releasing hormone anywhere, and adrenocortical masses that produce cortisol. Adrenocortical cancer is a rare cause of CS in children but should be excluded first. CS in children is often caused by germline or somatic mutations with implications for patient prognosis and for their families. CS should be recognized early in children; otherwise, it can lead to significant morbidity and mortality. Patients with suspected CS should be referred to specialized clinical centers for workup.
authors.affiliation: Section on Endocrinology & Genetics (SEGEN), NICHD, NIH, Building 10, CRC, East Laboratories, Room 1-3330, 10 Center Drive, Bethesda, MD 20892, USA. Electronic address: stratakc@mail.nih.gov.
authors.forename: Constantine A
authors.initials: CA
authors.lastname: Stratakis
mesh_terms: D000306:Adrenal Cortex Neoplasms / Q000150:complications; D000324:Adrenocorticotropic Hormone; D002648:Child; D003346:Corticotropin-Releasing Hormone; D003480:Cushing Syndrome / Q000175:diagnosis* / Q000235:genetics*; D006801:Humans; D010372:Pediatrics
chemical_list: D000324:Adrenocorticotropic Hormone; D003346:Corticotropin-Releasing Hormone
keywords: AIP gene; ARMC5 gene; Adrenal gland; Cyclic AMP (cAMP); GNAS1 gene; PRKAR1A gene; Pituitary gland; USP8 gene