Coexistence of Congenital Adrenal Hyperplasia and Autoimmune Addison's Disease.

Abstract

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.

• Authors: Sigrid Aslaksen, Paal Methlie, Magnus D Vigeland, Dag E Jøssang, Anette B Wolff, Ying Sheng, Bergithe E Oftedal, Beate Skinningsrud, Dag E Undlien, Kaja K Selmer, Eystein S Husebye, Eirik Bratland
• Journal: Frontiers in endocrinology (Front Endocrinol (Lausanne)) Vol. 10 Pg. 648 ( 2019) ISSN: 1664-2392 [Print] Switzerland
• PMID: 31611844 (Publication Type: Case Reports)
• Copyright: Copyright © 2019 Aslaksen, Methlie, Vigeland, Jøssang, Wolff, Sheng, Oftedal, Skinningsrud, Undlien, Selmer, Husebye and Bratland.