File(s) under permanent embargo
Imaging features of poorly controlled congenital adrenal hyperplasia in adults
journal contributionposted on 2015-07-01, 00:00 authored by Terry Kok, M Sherlock, N A Healy, O Doody, P Govender, W C Torreggiani
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.