Brain magnetic resonance imaging findings in adult patients with congenital adrenal hyperplasia: Increased frequency of white matter impairment and temporal lobe structures dysgenesis
Open accessAbstract
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. Aims: 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. Materials and 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.
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In a functional MRI study of 14 adolescents with classic CAH compared to age-matched controls, girls with CAH showed a similar pattern of amygdala activation to control boys, suggesting an androgen effect on amygdala function in girls with CAH.
“In a functional MRI study of 14 adolescents with classic CAH compared to age-matched controls, girls with CAH showed a similar pattern of amygdala activation to control boys, suggesting an androgen effect on amygdala function in girls with CAH (690).”
From Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management (2022) · cites this paper as [690]
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- Authors
- Mnif, M. F., Kamoun, M., Mnif, F., Charfi, N., Kallel, N., Rekik, N., Naceur, B. B., Fourati, H., Daoud, E., Mnif, Z., Sfar, M. H., Younes-Mhenni, S., Sfar, M. T., Hachicha, M., & Abid, M.
- Affiliations
- Hopital Universitaire Hedi Chaker (TN)
- Department of Endocrinology and Internal Medicine, Tahar Sfar Hospital, 5111 Mahdia, Tunisia
- Department of Pediatric, Tahar Sfar Hospital, 5111 Mahdia, Tunisia
- Corresponding author
- Kamoun, Mahdi
- Venue
- Indian Journal of Endocrinology and Metabolism
- Published
- 2013-01
- Volume
- 17
- Issue
- 1
- Pages
- 121-127
- ISSN
- 2230-8210 (ISSN-L)
- 2230-9500
- PMC
- PMC3659878
- OpenAlex
- W2072836664
- Cited by
- 24
- References
- 20
- Citations by year
- 2023: 3 · 2022: 4 · 2021: 2 · 2020: 5 · 2019: 2 · 2018: 3 · 2017: 1 · 2016: 1 · 2014: 2 · 2013: 1
- FWCI
- 0.60
- Type
- journal article
- Language
- en
- Open access
- diamond
- doi.org
- Licence
- cc-by-nc-sa
- Locations
- Indian Journal of Endocrinology and Metabolism (publishedVersion, cc-by-nc-sa)
- Europe PMC (PubMed Central) (publishedVersion, cc-by-nc-sa)
- PubMed Central (publishedVersion, cc-by-nc-sa)
- PubMed (publishedVersion)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
- 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, 21-hydroxylase deficiency, white matter hyperintensities, brain MRI abnormalities, intellectual disability, glucocorticoid exposure, brain development, cerebellar syndrome
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