SFEBES2016 Oral Communications Adrenal and Steroids (6 abstracts)
Novel brain biomarkers of cognitive abnormalities identified in patients with congenital adrenal hyperplasia
Emma A Webb 1, , Lucy Elliott 1 , Dominic Carlin 1 , Kirsty Hall 1 , Timothy Barrett 1, , Vijay Salwani 3 , Wiebke Arlt 1, , Nils Krone 4 , Andrew Peet 1, & Amanda Wood 1
1University of Birmingham, Birmingham, UK; 2Birmingham Children’s Hospital, Birmingham, UK; 3University Hospital Birmingham, Birmingham, UK; 4Sheffield Children’s Hospital, Sheffield, UK.
Background: Management of patients with CAH remains challenging. There is increasing evidence to suggest that failure to optimize treatment during childhood not only affects final height but also leads to psychological and psychiatric problems. Previous qualitative structural T2-weighted MRI studies have identified white matter hyper-intensities in up to 46% of CAH patients. The nature and functional relevance of these abnormalities remains unknown.
Objective and hypotheses: We aimed to identify novel MRI brain biomarkers of CAH using quantitative imaging and to examine their association with cognitive abnormalities.
Method: All participants completed IQ assessment and underwent brain volumetric, magnetic resonance spectroscopy and diffusion tensor imaging. Freesurfer (neural volumes and cortical thickness), TARQUIN (metabolites) and Tract Based Spatial Statistics (fractional anisotropy) were used for neuroimaging data analyses. ANCOVA were performed to compare groups, adjusted for multiple comparisons. Partial correlations were performed to assess the relationship between MRI markers and neuropsychological measures controlled for age and socioeconomic status.
Results: Seventeen females with 21-hydroxylase deficiency and eighteen age-matched healthy females were recruited (32.7 and 32.8 years, P=0.95). Patients with CAH had significantly lower processing speed (P=0.05), verbal fluency (P=0.01) episodic memory, learning and spatial working memory (P=0.001) scores. Patients with CAH had significant reductions in total brain volume (P=0.02), corpus callosum volume (P=0.03), hippocampal N-Acetyl Aspartate (P=0.03) and choline (P=0.002), brain fractional anisotropy (Figure A, P=0.01) and parahippocampal cortical thickness (B, left, C, right, P=0.05). There were significant relationships between; corpus callosum volume and spatial working memory (P=0.001), parahippocampal thickness, episodic and working memory (P=0.05), hippocampal choline and rapid visual information processing (P=0.02).
Conclusion: We have identified novel central nervous system imaging biomarkers of clinically significant cognitive abnormalities in patients with CAH. Further studies are required to determine the age of onset of these abnormalities and to develop preventative strategies.
Volume 44
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Endocrine Abstracts
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