CoChat
Sign Up
Cited by 145Adrenal Hormones and DisordersMetabolism and Genetic DisordersLysosomal Storage Disorders Research

Adrenal insufficiency in asymptomatic adrenoleukodystrophy patients identified by very long-chain fatty acid screening

Dubey, Prachi, Raymond, Gerald V., Moser, Ann B., Kharkar, Sidharth, Bezman, Lena, Moser, Hugo W.·2005·The Journal of Pediatrics
DOI 10.1016/j.jpeds.2004.10.067
Open this paper in CoChat — free account

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.

Integrity signals

Registry

Crossref · 10.1016/j.jpeds.2004.10.067

Cites

21 of 21 references verified0 citation errors · 0 not checkable

Statistics

Recomputing p-values needs the paper’s full text.

Claims the paper makes

We couldn’t retrieve this paper’s full text, so its claims and self-check weren’t run. The registry and citation checks still apply.

Claims other papers make about this one

Each is checked against this paper’s own text: does it say what the citing paper says it does?

  • In an assessment of adrenal function in 49 affected boys who had not yet exhibited neurological symptoms (aged 5 months to 13 years), 80% already displayed biochemical evidence of PAI without clinical symptoms at the point of ALD diagnosis.

    “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]

  • 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 did not exhibit clinical symptoms.

    “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]

  • 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.

    “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]

  • In patients with subclinical adrenal insufficiency, monitoring and early initiation of hormone replacement therapy can avoid adrenal crises and life-threatening events.

    “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]

Cites

Flagged first, then by citations

2 of the 23 references couldn’t be matched to a known paper.

Cited by

Sorted by citations

Related

Authors
Dubey, P., Raymond, G. V., Moser, A. B., Kharkar, S., Bezman, L., & Moser, H. W.
Affiliations
Kennedy Krieger Institute (US)
ORCID
Venue
The Journal of Pediatrics
Publisher
Elsevier BV
Published
2005-04
Volume
146
Issue
4
Pages
528-532
ISSN
0022-3476 (ISSN-L)
DOI
10.1016/j.jpeds.2004.10.067
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
Licence
www.elsevier.com/tdm/userlicense/1.0/ (tdm)
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 › Physiology › 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

About these checks

Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

Are you an author, or do you see a problem with this page? Request a review