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

Authors :: Aslaksen S
Methlie P
Vigeland MD
Jøssang DE
Wolff AB
Sheng Y
Oftedal BE
Skinningsrud B
Undlien DE
Selmer KK
Husebye ES
Bratland E
Source :: Frontiers in endocrinology [Front Endocrinol (Lausanne)] 2019 Sep 27; Vol. 10, pp. 648. Date of Electronic Publication: 2019 Sep 27 (Print Publication: 2019).
Publication Year :: 2019
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&#95;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.<br /> (Copyright © 2019 Aslaksen, Methlie, Vigeland, Jøssang, Wolff, Sheng, Oftedal, Skinningsrud, Undlien, Selmer, Husebye and Bratland.)