title: Imaging features of poorly controlled congenital adrenal hyperplasia in adults.
abstract: Congenital adrenal hyperplasia (CAH) is a genetic autosomal recessive condition most frequently as a result of a mutation in the 21-hydroxylase enzyme gene. Patients with poorly controlled CAH can manifest characteristic imaging findings as a result of adrenocorticotrophic hormone stimulation or the effects of cortisol precursor excess on various target organs. We present a spectrum of imaging findings encountered in adult patients with poorly treated CAH, with an emphasis on radiological features and their clinical relevance.
authors.affiliation: 1 Department of Radiology, Tallaght Hospital, Dublin, Ireland.
authors.forename: H K
authors.initials: HK
authors.lastname: Kok
authors.affiliation: 2 Department of Endocrinology, Tallaght Hospital, Dublin, Ireland.
authors.forename: M
authors.initials: M
authors.lastname: Sherlock
authors.affiliation: 1 Department of Radiology, Tallaght Hospital, Dublin, Ireland.
authors.forename: N A
authors.initials: NA
authors.lastname: Healy
authors.affiliation: 1 Department of Radiology, Tallaght Hospital, Dublin, Ireland.
authors.forename: O
authors.initials: O
authors.lastname: Doody
authors.affiliation: 1 Department of Radiology, Tallaght Hospital, Dublin, Ireland.
authors.forename: P
authors.initials: P
authors.lastname: Govender
authors.affiliation: 1 Department of Radiology, Tallaght Hospital, Dublin, Ireland.
authors.forename: W C
authors.initials: WC
authors.lastname: Torreggiani
mesh_terms: D000311:Adrenal Glands / Q000473:pathology*; D000312:Adrenal Hyperplasia, Congenital / Q000150:complications / Q000175:diagnosis*; D000328:Adult; D002493:Central Nervous System Diseases / Q000150:complications / Q000175:diagnosis; D005260:Female; D006066:Gonads / Q000473:pathology*; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male; D009140:Musculoskeletal Diseases / Q000150:complications / Q000175:diagnosis; D014057:Tomography, X-Ray Computed / Q000379:methods