Frontiers in Endocrinology (Sep 2019)

Coexistence of Congenital Adrenal Hyperplasia and Autoimmune Addison's Disease

  • Sigrid Aslaksen,
  • Sigrid Aslaksen,
  • Paal Methlie,
  • Paal Methlie,
  • Paal Methlie,
  • Magnus D. Vigeland,
  • Magnus D. Vigeland,
  • Dag E. Jøssang,
  • Anette B. Wolff,
  • Anette B. Wolff,
  • Ying Sheng,
  • Bergithe E. Oftedal,
  • Bergithe E. Oftedal,
  • Beate Skinningsrud,
  • Dag E. Undlien,
  • Dag E. Undlien,
  • Kaja K. Selmer,
  • Kaja K. Selmer,
  • Eystein S. Husebye,
  • Eystein S. Husebye,
  • Eystein S. Husebye,
  • Eirik Bratland,
  • Eirik Bratland

DOI
https://doi.org/10.3389/fendo.2019.00648
Journal volume & issue
Vol. 10

Abstract

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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.

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