Magnetic resonance imaging in the congenital adrenal hyperplasia population: increased frequency of white-matter abnormalities and temporal lobe atrophy
Abstract
Congenital adrenal hyperplasia results from an adrenal enzyme deficiency, that causes an underproduction of glucocorticoids and sometimes mineralocorticoids and a resultant overproduction of androgens, until treatment with replacement glucocorticoids is instituted. The goal of this study was to determine the frequency and etiology of white-matter changes and temporal lobe atrophy demonstrable on magnetic resonance imaging (MRI) in a group of children and young adults with congenital adrenal hyperplasia. About one third of the patients evidenced white-matter abnormalities or temporal lobe atrophy. All patients, except one with a known stroke, had normal neurologic examinations. Exposure to excess exogenous glucocorticoids in the process of being treated for congenital adrenal hyperplasia is the most theoretically appealing explanation for these MRI findings. However, the relationship of MRI findings to treatment status (over- versus under-suppressed) does not run in clear parallel. (J Child Neurol 1997;12:181-186).
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Widespread expression of androgen and glucocorticoid receptors in the brain suggest that fetal and postnatal imbalances in androgen and glucocorticoid exposure characteristic of CAH might influence brain development and function, with the potential to impact mental health.
“Widespread expression of androgen and glucocorticoid receptors in the brain suggest that fetal and postnatal imbalances in androgen and glucocorticoid exposure characteristic of CAH might influence brain development and function, with the potential to impact mental health (689).”
From Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management (2022) · cites this paper as [689]
All of the neuroimaging studies are hindered by small sample size.
“All of the neuroimaging studies are hindered by small sample size (689).”
From Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management (2022) · cites this paper as [689]
Sex matching is essential since human male/female differences have been found in total brain volume, gray matter brain volume in specific regions and brain connectivity; sexual dimorphism of the brain has also been found during childhood.
“Moreover, sex matching is essential since human male/female differences have been found in total brain volume (697), gray matter brain volume in specific regions (698) and brain connectivity (699); sexual dimorphism of the brain has also been found during childhood (700)(reviewed in (689)).”
From Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management (2022) · cites this paper as [689]
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Reduced cortical thickness in individuals with congenital adrenal hyperplasia (CAH)
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- Authors
- Nass, R., Heier, L., Moshang, T., Oberfield, S., George, A., New, M. I., & Speiser, P. W.
- Affiliations
- NYU Langone Health (US)
- Department of Radiology, New York Hospital-Comell Medical Center, New York, NY
- Children's Hospital of Philadelphia (US)
- Department of Pediatrics, New York Hospital-Comell Medical Center, New York, NY
- North Shore University Hospital (US)
- Venue
- Journal of Child Neurology
- Publisher
- SAGE Publications
- Published
- 1997-04
- Volume
- 12
- Issue
- 3
- Pages
- 181-186
- ISSN
- 0883-0738 (ISSN-L)
- 1708-8283
- OpenAlex
- W2158598715
- Cited by
- 67
- References
- 62
- Citations by year
- 2026: 1 · 2025: 1 · 2024: 1 · 2023: 6 · 2022: 4 · 2021: 4 · 2020: 3 · 2019: 1 · 2018: 1 · 2017: 2 · 2016: 2 · 2015: 1 · 2014: 6 · 2013: 7 · 2012: 1
- FWCI
- 0.35
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Journal of Child Neurology (publishedVersion)
- PubMed (publishedVersion)
- Funders
- March of Dimes Foundation
- National Institutes of Health
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Sexual Differentiation and Disorders
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Adrenal Hormones and Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Keywords
- congenital adrenal hyperplasia, white matter abnormalities, temporal lobe atrophy, glucocorticoid replacement therapy, neuroimaging findings, children and young adults
- MeSH terms
- Adolescent, Adrenal Hyperplasia, Congenital, Adult, Atrophy, Brain, Child, Child, Preschool, Female, Glucocorticoids, Humans, Infant, Magnetic Resonance Imaging, Male, Temporal Lobe
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