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

TITLE=Coexistence of Congenital Adrenal Hyperplasia and Autoimmune Addison's Disease

JOURNAL=Frontiers in Endocrinology

VOLUME=10

YEAR=2019

URL=https://www.frontiersin.org/journals/endocrinology/articles/10.3389/fendo.2019.00648

DOI=10.3389/fendo.2019.00648

ISSN=1664-2392

ABSTRACT=<p><bold>Background:</bold> 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.</p><p><bold>Case Report:</bold> Whole exome sequencing revealed an extremely rare homozygous nonsense mutation in exon 2 of the <italic>HSD3B2</italic> gene, leading to a premature stop codon (NM_000198.3: c.15C&gt;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.</p><p><bold>Conclusion:</bold> 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.</p>