False-positive very long-chain fatty acids in a case of autoimmune adrenal insufficiency
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Jia Zhu
Abstract
Background
X-linked adrenoleukodystrophy (ALD) affects up to 25% of boys diagnosed with adrenal insufficiency in childhood. Because early identification of these individuals can be lifesaving, all boys with new-onset primary adrenal insufficiency should be tested for ALD with a plasma very long-chain fatty acid (VLCFA) level. While plasma VLCFA is a diagnostic test with high sensitivity and specificity, false-positive results have been reported in individuals on a ketogenic diet.
Case presentation
We present a case of an 11-year-old boy with new-onset primary adrenal insufficiency due to autoimmune adrenalitis who was initially found to have elevated VLCFA levels, suggestive of ALD, that normalized on repeat testing.
Conclusions
As advances in gene therapy and newborn screening for ALD expand, VLCFA testing may increase, and clinicians should be aware that testing during the initial presentation of primary adrenal insufficiency may lead to false-positive results and associated psychosocial distress.
Funding source: National Institute of Diabetes and Digestive and Kidney Diseases
Award Identifier / Grant number: 5T32DK007699
Acknowledgements
The authors thank the patient for his collaboration.
Research funding: Jia Zhu was supported by a NIDDK Grant 5T32DK007699.
Author contributions: Dr. Jia Zhu conducted the medical record and literature reviews and wrote the first draft of the case report. Dr. David T. Breault conceptualized the case report and reviewed and revised the manuscript. Both authors approved the final manuscript as submitted and agree to be accountable for all aspects of the work.
Competing Interests: The funding organization played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.
Informed consent: Informed consent was obtained from all individuals included in this study.
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© 2020 Walter de Gruyter GmbH, Berlin/Boston
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Articles in the same Issue
- Frontmatter
- Original Articles
- The utility of next-generation sequencing technologies in diagnosis of Mendelian mitochondrial diseases and reflections on clinical spectrum
- PATRO children, a multi-center, non-interventional study of the safety and effectiveness of Omnitrope® (somatropin) treatment in children: update on the United States cohort
- Effect of vitamin K2 and vitamin D3 on bone mineral density in children with acute lymphoblastic leukemia: a prospective cohort study
- Diagnostic utility of fine needle aspiration cytology in pediatric thyroid nodules based on Bethesda Classification
- Ultrasonographic determination of thyroid volume in infants and children from Aegean region of Turkey and comparison with national and international references
- Association of thyroid autoimmunity and the response to recombinant human growth hormone in Turner syndrome
- Evaluating transition in Turner syndrome in the West of Scotland
- Short-term effects of gonadotropin-releasing hormone analogue treatment on leptin, ghrelin and peptide YY in girls with central precocious puberty
- Metabolic syndrome and risk factors after hematopoietic stem cell transplantation in children and adolescents
- Urinary bisphenol A levels in prepubertal children with exogenous obesity according to presence of metabolic syndrome
- Associations of insulin-induced lipodystrophy in children, adolescents, and young adults with type 1 diabetes mellitus using recombinant human insulin: a cross-sectional study
- Incidence of diabetes in children and adolescents in Dhaka, Bangladesh
- Case Reports
- False-positive very long-chain fatty acids in a case of autoimmune adrenal insufficiency
- Prepubescent unilateral gynecomastia secondary to excessive soy consumption
- Detection of hepatocyte nuclear factor 4A(HNF4A) gene variant as the cause for congenital hyperinsulinism leads to revision of the diagnosis of the mother
- Coexistence of dyschondrosteosis associated to SHOX deficiency, pseudohypoparathyroidism 1B, and chronic autoimmune thyroiditis: a case report
