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Case Report ARTICLE Provisionally accepted The full-text will be published soon. Notify me

Front. Endocrinol. | doi: 10.3389/fendo.2019.00648

Coexistence of congenital adrenal hyperplasia and autoimmune Addison’s disease

 Sigrid Aslaksen1*, Paal Methlie1, 2, 3, Magnus D. Vigeland4, 5, Dag E. Jøssang6,  Anette S. Wolff1, 7,  Ying Sheng5,  Bergithe E. Oftedal1, 7, Beate Skinningsrud5, Dag E. Undlien4, 5, Kaja K. Selmer8, Eystein S. Husebye1, 3, 7 and  Eirik Bratland1, 7
  • 1Department of Clinical Science, Faculty of Medicine, University of Bergen, Norway
  • 2K.G. Jebsen Centre for Autoimmune Diseases, University of Bergen, Norway
  • 3Department of Medicine, Haukeland University Hospital, Norway
  • 4Institute of Clinical Medicine, Faculty of Medicine, University of Oslo, Norway
  • 5Department of Medical Genetics, Faculty of Medicine, University of Oslo, Norway
  • 6Department of Radiology, Haukeland University Hospital, Norway
  • 7KG Jebsen Center for Autoimmune Diseases, Faculty of Medicine, University of Bergen, Norway
  • 8Division of Clinical Neuroscience, Oslo University Hospital, Norway

Background: Underlying causes of adrenal insufficiency include congenital adrenal hyperplasia (CAH) and autoimmune adrenocortical destruction leading to autoimmune Addison’s disease (AAD). Here, we report a patient with a homozygous stop-gain mutation in 3β-hydroxysteroid dehydrogenase type 2 (3βHSD2), in addition to impaired steroidogenesis due to AAD.

Case report: Whole exome sequencing revealed an extremely rare homozygous nonsense mutation in exon 2 of the HSD3B2 gene, leading to a premature stop codon (NM_000198.3: c.15C>A, p.Cys5Ter) in a patient with AAD and premature ovarian insufficiency. Scrutiny of old medical records revealed that the patient was initially diagnosed with CAH with hyperandrogenism and severe salt-wasting shortly after birth. However, the current steroid profile show complete adrenal insufficiency including low production of pregnenolone, dehydroepiandrosterone (DHEA) and DHEA sulfate (DHEA-S), without signs of overtreatment with steroids.

Conclusion: To the best of our knowledge, this is the first description of autoimmune adrenalitis in a patient with 3βHSD2 deficiency and suggests a possible association between AAD and inborn errors of the steroidogenesis.

Keywords: Adrenal Insufficiency, Congenital adrenal hyperplasia (CAH), 3β-hydroxysteroid dehydrogenase type 2 deficiency, Autoimmune adrenalitis, Autoimmune Addison’s disease

Received: 10 Jul 2019; Accepted: 06 Sep 2019.

Copyright: © 2019 Aslaksen, Methlie, Vigeland, Jøssang, Wolff, Sheng, Oftedal, Skinningsrud, Undlien, Selmer, Husebye and Bratland. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

* Correspondence: Mx. Sigrid Aslaksen, Department of Clinical Science, Faculty of Medicine, University of Bergen, Bergen, N-5020, Hordaland, Norway,