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J Clin Endocrinol Metab. 2018 Apr 1;103(4):1330-1341. doi: 10.1210/jc.2017-01481.

Quantitative Brain MRI in Congenital Adrenal Hyperplasia: In Vivo Assessment of the Cognitive and Structural Impact of Steroid Hormones.

Author information

1
Department of Endocrinology & Diabetes, Birmingham Children's Hospital, Birmingham, United Kingdom.
2
Institute of Metabolism and Systems Research, University of Birmingham, Birmingham, United Kingdom.
3
Centre for Endocrinology, Diabetes and Metabolism, Birmingham Health Partners, Birmingham, United Kingdom.
4
University of East Anglia, Faculty of Medical and Health Sciences, Norwich, Norfolk, United Kingdom.
5
Institute of Cancer and Genomic Sciences, College of Medical and Dental Sciences, University of Birmingham, Birmingham, United Kingdom.
6
Centre for Human Brain Health and School of Psychology, University of Birmingham, Birmingham, United Kingdom.
7
School of Psychology, University of Birmingham, Birmingham, United Kingdom.
8
Department of Psychology, Birmingham Children's Hospital, Birmingham, United Kingdom.
9
Department of Radiology, University Hospitals Birmingham NHS Foundation Trust, Birmingham, United Kingdom.
10
Developmental Imaging & Biophysics Section, UCL Great Ormond Street Institute of Child Health, London, United Kingdom.
11
Academic Unit of Child Health, Department of Oncology & Metabolism, University of Sheffield, Sheffield Children's Hospital, Sheffield, United Kingdom.
12
School Life and Health Sciences & Aston Brain Centre, Aston University, Birmingham, United Kingdom.
13
Child Neuropsychology, Clinical Sciences, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.

Abstract

Context:

Brain white matter hyperintensities are seen on routine clinical imaging in 46% of adults with congenital adrenal hyperplasia (CAH). The extent and functional relevance of these abnormalities have not been studied with quantitative magnetic resonance imaging (MRI) analysis.

Objective:

To examine white matter microstructure, neural volumes, and central nervous system (CNS) metabolites in CAH due to 21-hydroxylase deficiency (21OHD) and to determine whether identified abnormalities are associated with cognition, glucocorticoid, and androgen exposure.

Design, Setting, and Participants:

A cross-sectional study at a tertiary hospital including 19 women (18 to 50 years) with 21OHD and 19 age-matched healthy women.

Main Outcome Measure:

Recruits underwent cognitive assessment and brain imaging, including diffusion weighted imaging of white matter, T1-weighted volumetry, and magnetic resonance spectroscopy for neural metabolites. We evaluated white matter microstructure by using tract-based spatial statistics. We compared cognitive scores, neural volumes, and metabolites between groups and relationships between glucocorticoid exposure, MRI, and neurologic outcomes.

Results:

Patients with 21OHD had widespread reductions in white matter structural integrity, reduced volumes of right hippocampus, bilateral thalami, cerebellum, and brainstem, and reduced mesial temporal lobe total choline content. Working memory, processing speed, and digit span and matrix reasoning scores were reduced in patients with 21OHD, despite similar education and intelligence to controls. Patients with 21OHD exposed to higher glucocorticoid doses had greater abnormalities in white matter microstructure and cognitive performance.

Conclusion:

We demonstrate that 21OHD and current glucocorticoid replacement regimens have a profound impact on brain morphology and function. If reversible, these CNS markers are a potential target for treatment.

PMID:
29165577
PMCID:
PMC6018658
DOI:
10.1210/jc.2017-01481
[Indexed for MEDLINE]
Free PMC Article

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