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The natural history of autoimmune Addison’s disease with a non-classical presentation: a case report and review of literature

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Published/Copyright: February 26, 2018
Clinical Chemistry and Laboratory Medicine (CCLM)
From the journal Clinical Chemistry and Laboratory Medicine (CCLM) Volume 56 Issue 6

Abstract

Autoimmune Addison’s disease (AAD) is the most frequent cause of adrenocortical insufficiency. The natural history of AAD usually comprises five consecutive stages with the first stage characterized by the increase of plasma renin consistent with the impairment of pars glomerulosa, which is usually the first affected layer of the adrenal cortex. We describe a 19-year-old female with Hashimoto’s thyroiditis (HT) who underwent an autoantibody screening due to having the personal and family history of other autoimmune diseases in the absence of relevant clinical manifestations. She was positive for adrenal cortex autoantibodies (ACA) and steroid 21-hydroxylase autoantibodies (21-OH Ab) at high titers. She had increased basal levels of ACTH with normal basal cortisol not responding to ACTH stimulation, reduced levels of dehydroepiandrosterone-sulfate but normal levels of orthostatic renin and aldosterone. This scenario was consistent with a subclinical AAD presenting with first impairments in pars fasciculata and reticularis and conserved pars glomerulosa function. Only subsequently, progressive deficiency in pars glomerulosa function has become evident. Review of the literature showed that there was only one case, reported to date, with a similar atypical natural history of AAD. The strategies for screening for ACA/21-OH Ab in patients with HT are discussed.

Keywords: 21-hydroxylase autoantibodies; Addison’s disease; adrenal cortex autoantibodies; autoimmune polyglandular syndrome; Hashimoto’s thyroiditis; natural history
Corresponding author: Prof. Corrado Betterle, MD, Endocrinology Unit, Department of Medicine (DIMED), University of Padova, Via Ospedale Civile 105, 35128 Padova, Padova, Italy, Phone: (+39)049.8214273, Fax: (+39)049.657391

Acknowledgments

Autoantibody tests including 21-OH Ab and autoantibodies to steroid 17-alpha hydroxylase, p450 cytochrome side chain cleavage enzyme, tryptophan hydroxylase, aromatic L-amino acid decarboxylase and interferon-omega were performed at FIRS Laboratories, RSR Ltd (Cardiff, UK). We thank Dr. Jadwiga Furmaniak and Dr. Shu Chen for scientific discussion and contribution to the manuscript.

  1. Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.

  2. Research funding: None declared.

  3. Employment or leadership: None declared.

  4. Honorarium: None declared.

  5. Competing interests: The funding organization(s) 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.

References

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Received: 2017-11-27
Accepted: 2018-1-24
Published Online: 2018-2-26
Published in Print: 2018-5-24

©2018 Walter de Gruyter GmbH, Berlin/Boston

Articles in the same Issue

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  2. Editorial
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  4. Reviews
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https://doi.org/10.1515/cclm-2017-1108
Keywords for this article
21-hydroxylase autoantibodies; Addison’s disease; adrenal cortex autoantibodies; autoimmune polyglandular syndrome; Hashimoto’s thyroiditis; natural history

Articles in the same Issue

  1. Frontmatter
  2. Editorial
  3. Developments in laboratory testing for autoimmune diseases
  4. Reviews
  5. Cerebrospinal fluid microRNAs as diagnostic biomarkers in brain tumors
  6. HCV core antigen comes of age: a new opportunity for the diagnosis of hepatitis C virus infection
  7. Mini Reviews
  8. Insulin autoimmune syndrome (Hirata’s disease) in an Italian patient: a case report and review of the literature
  9. The natural history of autoimmune Addison’s disease with a non-classical presentation: a case report and review of literature
  10. Opinion Paper
  11. Quality and future of clinical laboratories: the Vico’s whole cyclical theory of the recurring cycles
  12. General Clinical Chemistry and Laboratory Medicine
  13. Screening for connective tissue disease-associated antibodies by automated immunoassay
  14. Analysis of anti-ganglioside antibodies by a line immunoassay in patients with chronic-inflammatory demyelinating polyneuropathies (CIDP)
  15. Detection of autoantibodies to the p200-epitope of SSA/Ro52 antigen. A comparison of two laboratory assays
  16. A new ELISA for autoantibodies to steroid 21-hydroxylase
  17. Antibodies to phosphatidylserine/prothrombin (aPS/PT) enhanced the diagnostic performance in Chinese patients with antiphospholipid syndrome
  18. Borderline positive antineutrophil cytoplasmic antibodies (ANCA)-PR3/MPO detection in a large cohort tertiary center: lessons learnt from a real-life experience
  19. Reference Values and Biological Variations
  20. Short- and medium-term biological variation estimates of red blood cell and reticulocyte parameters in healthy subjects
  21. Pediatric reference intervals for 1,25-dihydroxyvitamin D using the DiaSorin LIAISON XL assay in the healthy CALIPER cohort
  22. Reference intervals for biochemical, haemostatic and haematological parameters in healthy Chinese women during early and late pregnancy
  23. Cancer Diagnostics
  24. Use of circulating tumor cells in prospective clinical trials for NSCLC patients – standardization of the pre-analytical conditions
  25. High microRNA-28-5p expression in colorectal adenocarcinoma predicts short-term relapse of node-negative patients and poor overall survival of patients with non-metastatic disease
  26. Infectious Diseases
  27. Diagnosis of acute pediatric appendicitis from children with inflammatory diseases by combination of metabolic markers and inflammatory response variables
  28. Letters to the Editor
  29. Repeat requesting on hemolysed plasma potassium requests
  30. A case report of insulin autoimmune syndrome in a Central European individual
  31. Traceability of alkaline phosphatase measurement may also vary considerably using the same analytical system: the case of Abbott Architect
  32. Abiraterone acetate: a potential source of interference in testosterone assays
  33. Falsely elevated plasma testosterone concentrations in neonates: importance of LC-MS/MS measurements
  34. Rational approach to the primary evaluation of thyroid disease in paediatrics. Full thyroid profile vs. thyroid-stimulating hormone and free thyroxine only
  35. Diagnostic performance of the N-terminal pro-brain natriuretic peptide to detect an increased left atrial pressure in patients with persistent atrial fibrillation
  36. Is the DNA of placental origin packaged in exosomes isolated from plasma and serum of pregnant women?
  37. Gamma heavy chain disease evolving during the progression of chronic lymphocytic leukemia
  38. Congress Abstracts
  39. ISMD2018 Twelfth International Symposium on Molecular Diagnostics
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