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

Autor:	Aslaksen S; Department of Clinical Science, University of Bergen, Bergen, Norway.; K.G. Jebsen Center for Autoimmune Diseases, University of Bergen, Bergen, Norway., Methlie P; Department of Clinical Science, University of Bergen, Bergen, Norway.; K.G. Jebsen Center for Autoimmune Diseases, University of Bergen, Bergen, Norway.; Department of Medicine, Haukeland University Hospital, Bergen, Norway., Vigeland MD; Institute of Clinical Medicine, University of Oslo, Oslo, Norway.; Department of Medical Genetics, Oslo University Hospital, Oslo, Norway., Jøssang DE; Department of Radiology, Haukeland University Hospital, Bergen, Norway., Wolff AB; Department of Clinical Science, University of Bergen, Bergen, Norway.; K.G. Jebsen Center for Autoimmune Diseases, University of Bergen, Bergen, Norway., Sheng Y; Department of Medical Genetics, Oslo University Hospital, Oslo, Norway., Oftedal BE; Department of Clinical Science, University of Bergen, Bergen, Norway.; K.G. Jebsen Center for Autoimmune Diseases, University of Bergen, Bergen, Norway., Skinningsrud B; Department of Medical Genetics, Oslo University Hospital, Oslo, Norway., Undlien DE; Institute of Clinical Medicine, University of Oslo, Oslo, Norway.; Department of Medical Genetics, Oslo University Hospital, Oslo, Norway., Selmer KK; Division of Clinical Neuroscience, Department of Research and Development, Oslo University Hospital, University of Oslo, Oslo, Norway.; National Centre for Epilepsy, Oslo University Hospital, Oslo, Norway., Husebye ES; Department of Clinical Science, University of Bergen, Bergen, Norway.; K.G. Jebsen Center for Autoimmune Diseases, University of Bergen, Bergen, Norway.; Department of Medicine, Haukeland University Hospital, Bergen, Norway., Bratland E; Department of Clinical Science, University of Bergen, Bergen, Norway.; K.G. Jebsen Center for Autoimmune Diseases, University of Bergen, Bergen, Norway.
Jazyk:	angličtina
Zdroj:	Frontiers in endocrinology [Front Endocrinol (Lausanne)] 2019 Sep 27; Vol. 10, pp. 648. Date of Electronic Publication: 2019 Sep 27 (Print Publication: 2019).
DOI:	10.3389/fendo.2019.00648
Abstrakt:	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. (Copyright © 2019 Aslaksen, Methlie, Vigeland, Jøssang, Wolff, Sheng, Oftedal, Skinningsrud, Undlien, Selmer, Husebye and Bratland.)
Databáze:	MEDLINE
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