title: Brain magnetic resonance imaging findings in adult patients with congenital adrenal hyperplasia: Increased frequency of white matter impairment and temporal lobe structures dysgenesis.
abstract: BACKGROUND
  Congenital adrenal hyperplasia (CAH) is an inherited recessive disorder of adrenal steroidogenesis. The enzymes most commonly affected are 21-hydroxylase. Past reports suggested brain magnetic resonance imaging (MRI) abnormalities in CAH patients, affecting white matter signal, temporal lobe and amygdala structure and function.
  
  
  OBJECTIVE
  In the present study, we aimed to investigate the frequency of white matter changes and temporal lobes structures dysgenesis in a population of patients having CAH due to 21-hydroxylase deficiency.
  
  
  METHODS
  Neurological examination and brain MRI were performed in 26 patients.
  
  
  RESULTS
  Neurological examination revealed mental retardation in three patients, tremor in two patients, tendon reflexes asymmetry in one patient, and cerebellar syndrome in one patient. Eleven patients (42.3%) showed MRI abnormalities: Eight of them had white matter hyperintensities, one patient had moderate atrophy in the right temporal, and hippocampal dysgenesis was found in the remaining two patients.
  
  
  CONCLUSIONS
  Brain MRI abnormalities in CAH patients include white matter hyperintensities and temporal lobe structures dysgenesis. The mechanisms involved seem related to hormonal imbalances during brain development and exposure to excess exogenous glucocorticoids. Clinical implications of such lesions remain unclear. More extensive studies are required to define better the relationships between brain involvement and different CAH phenotypes and treatment regimens.
authors.affiliation: Department of Endocrinology, HediChaker Hospital, 3029 Sfax, Tunisia.
authors.forename: Mouna Feki
authors.initials: MF
authors.lastname: Mnif
authors.forename: Mahdi
authors.initials: M
authors.lastname: Kamoun
authors.forename: Fatma
authors.initials: F
authors.lastname: Mnif
authors.forename: Nadia
authors.initials: N
authors.lastname: Charfi
authors.forename: Nozha
authors.initials: N
authors.lastname: Kallel
authors.forename: Nabila
authors.initials: N
authors.lastname: Rekik
authors.forename: Basma Ben
authors.initials: BB
authors.lastname: Naceur
authors.forename: Hela
authors.initials: H
authors.lastname: Fourati
authors.forename: Emna
authors.initials: E
authors.lastname: Daoud
authors.forename: Zainab
authors.initials: Z
authors.lastname: Mnif
authors.forename: Mohamed Habib
authors.initials: MH
authors.lastname: Sfar
authors.forename: Samia
authors.initials: S
authors.lastname: Younes-Mhenni
authors.forename: Mohamed Tahar
authors.initials: MT
authors.lastname: Sfar
authors.forename: Mongia
authors.initials: M
authors.lastname: Hachicha
authors.forename: Mohamed
authors.initials: M
authors.lastname: Abid
keywords: Congenital adrenal hyperplasia; glucocorticoids; leukoencephalopathy; magnetic resonance imaging; temporal lobe