Imaging features of poorly controlled congenital adrenal hyperplasia in adults

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...

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Bibliographic Details
Published inBritish journal of radiology Vol. 88; no. 1053; p. 20150352
Main Authors Kok, H K, Sherlock, M, Healy, N A, Doody, O, Govender, P, Torreggiani, W C
Format Journal Article
LanguageEnglish
Published England The British Institute of Radiology 01.09.2015
Subjects
Adrenal Glands - pathology
Adrenal Hyperplasia, Congenital - complications
Adrenal Hyperplasia, Congenital - diagnosis
Adult
Central Nervous System Diseases - complications
Central Nervous System Diseases - diagnosis
Female
Gastrointestinal/Abdominal
Genitourinary tract
Gonads - pathology
Humans
Magnetic Resonance Imaging - methods
Male
Musculoskeletal Diseases - complications
Musculoskeletal Diseases - diagnosis
Pictorial Review
Tomography, X-Ray Computed - methods
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Summary: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.
Bibliography:ObjectType-Article-2
SourceType-Scholarly Journals-1
ObjectType-Feature-3
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ObjectType-Review-1
ISSN:0007-1285
1748-880X
DOI:10.1259/bjr.20150352