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dc.contributor.authorAslaksen, Sigriden_US
dc.contributor.authorMethlie, Paalen_US
dc.contributor.authorVigeland, Magnus Dehlien_US
dc.contributor.authorJøssang, Dag Eiriken_US
dc.contributor.authorWolff, Anette Susanne Bøeen_US
dc.contributor.authorSheng, Yingen_US
dc.contributor.authorOftedal, Bergithe Eikelanden_US
dc.contributor.authorSkinningsrud, Beateen_US
dc.contributor.authorUndlien, Dag Eriken_US
dc.contributor.authorSelmer, Kaja Kristineen_US
dc.contributor.authorHusebye, Eystein Sverreen_US
dc.contributor.authorBratland, Eiriken_US
dc.PublishedAslaksen A, Methlie P, Vigeland MD, Jøssang DE, Wolff AS, Sheng Y, Oftedal BE, Skinningsrud B, Undlien DE, Selmer KK, Husebye ES, Bratland E. Coexistence of Congenital Adrenal Hyperplasia and Autoimmune Addison's Disease. Frontiers in Endocrinology. 2019;10(648)eng
dc.description.abstractBackground: 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.en_US
dc.rightsAttribution CC BYeng
dc.subjectadrenal insufficiencyeng
dc.subjectcongenital adrenal hyperplasiaeng
dc.subject3β-hydroxysteroid dehydrogenase type 2 deficiencyeng
dc.subjectautoimmune adrenalitiseng
dc.subjectautoimmune Addison’s diseaseeng
dc.titleCoexistence of Congenital Adrenal Hyperplasia and Autoimmune Addison's Diseaseen_US
dc.typePeer reviewed
dc.typeJournal article
dc.rights.holderCopyright © 2019 Aslaksen, Methlie, Vigeland, Jøssang, Wolff, Sheng, Oftedal, Skinningsrud, Undlien, Selmer, Husebye and Bratland.
dc.source.journalFrontiers in Endocrinology
dc.relation.projectNorges forskningsråd: 250030
dc.relation.projectNorges forskningsråd: 262677

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