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Adrenal insufficiency in asymptomatic adrenoleukodystrophy patients identified by very long-chain fatty acid screening
Abstract
Objective Plasma assay for very long-chain fatty acids has made it possible to perform large-scale screening of at-risk individuals to identify asymptomatic patients with X-linked adrenoleukodystrophy (X-ALD). We evaluated the burden of undiagnosed adrenal insufficiency in 49 such patients (age, 4.5 +/- 3.5 years). Study design Serum adrenocorticotropic hormone (ACTH) and standard-dose ACTH stimulation test were performed at the baseline and followed prospectively until initiation of adrenal replacement therapy (follow-up, 2 +/- 1.7 years). Results At baseline, 39 (80%) patients had impaired adrenal function, serum ACTH levels were elevated in 34 (69%) patients, and ACTH stimulation test was abnormal in 21(43%) patients. There was a moderate association between Serum ACTH and age at baseline, ( r = 0.32, P = .05). By the end of follow-up, 86% of patients had borderline or overt adrenal insufficiency (age of onset, 4.8 +/- 3.7 years). Conclusions We detected a high prevalence of unrecognized adrenocortical insufficiency in asymptomatic boys with X-ALD. It is known to be a frequent cause of morbidity and can be prevented by careful monitoring, early identification of impaired adrenal reserve, and timely initiation of therapy. It manifests early and before onset of neurologic symptoms, suggesting X-ALD as a candidate disorder for neonatal screening.
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“During an assessment of adrenal function in a group of 49 affected boys who had not yet exhibited neurological symptoms (ranging in age from 5 months to 13 years), it was observed that 80% of them already displayed biochemical evidence of PAI, which otherwise did not manifest as clinical symptoms, at the point of their ALD diagnosis (25).”
From X-linked adrenoleukodystrophy and primary adrenal insufficiency (2023) · cites this paper as [25]
In the citing paper
“PAI was identified in X-ALD patients as young as 7 months and 5 months old. These individuals showed biochemical irregularities associated with PAI but yet did not exhibit any clinical symptoms (25, 26).”
From X-linked adrenoleukodystrophy and primary adrenal insufficiency (2023) · cites this paper as [25]
In the citing paper
“The majority of male X-ALD patients develops primary adrenocortical insufficiency (Addison’s disease) which can be the first and often sole symptom in young male X-ALD patients.30”
From The genetic landscape of X-linked adrenoleukodystrophy: inheritance, mutations, modifier genes, and diagnosis (2015) · cites this paper as [30]
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“In addition, in patients with subclinical adrenal insufficiency, monitoring and early initiation of hormone replacement therapy can avoid adrenal crises and life-threatening events.30,67”
From The genetic landscape of X-linked adrenoleukodystrophy: inheritance, mutations, modifier genes, and diagnosis (2015) · cites this paper as [30]
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Metadata
- Authors
- Dubey, P., Raymond, G. V., Moser, A. B., Kharkar, S., Bezman, L., & Moser, H. W.
- Affiliations
- Kennedy Krieger Institute (US)
- Venue
- The Journal of Pediatrics
- Publisher
- Elsevier BV
- Published
- 2005-04
- Volume
- 146
- Issue
- 4
- Pages
- 528-532
- ISSN
- 0022-3476 (ISSN-L)
- OpenAlex
- W2071713047
- Cited by
- 145
- References
- 23
- Citations by year
- 2026: 3 · 2025: 6 · 2024: 8 · 2023: 8 · 2022: 13 · 2021: 14 · 2020: 8 · 2019: 14 · 2018: 9 · 2017: 6 · 2016: 8 · 2015: 5 · 2014: 7 · 2013: 3 · 2012: 1
- FWCI
- 3.54
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- The Journal of Pediatrics (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Center for Research Resources (M01 RR-00052, M01RR000052)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (HD-10981, P01HD010981)
- Topics
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Adrenal Hormones and Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Health Sciences › Medicine › Genetics (clinical) › Lysosomal Storage Disorders Research
- Keywords
- X-linked adrenoleukodystrophy, adrenal insufficiency, very long chain fatty acids, asymptomatic patients, ACTH stimulation test, newborn screening, adrenal reserve
- MeSH terms
- Adrenal Insufficiency, Adrenocorticotropic Hormone, Adrenoleukodystrophy, Child, Preschool, Fatty Acids, Humans, Male, Prospective Studies
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