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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+Show Affiliations

Department of Clinical Science, University of Bergen, Bergen, Norway. K.G. Jebsen Center for Autoimmune Diseases, University of Bergen, Bergen, Norway.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.Institute of Clinical Medicine, University of Oslo, Oslo, Norway. Department of Medical Genetics, Oslo University Hospital, Oslo, Norway.Department of Radiology, Haukeland University Hospital, Bergen, Norway.Department of Clinical Science, University of Bergen, Bergen, Norway. K.G. Jebsen Center for Autoimmune Diseases, University of Bergen, Bergen, Norway.Department of Medical Genetics, Oslo University Hospital, Oslo, Norway.Department of Clinical Science, University of Bergen, Bergen, Norway. K.G. Jebsen Center for Autoimmune Diseases, University of Bergen, Bergen, Norway.Department of Medical Genetics, Oslo University Hospital, Oslo, Norway.Institute of Clinical Medicine, University of Oslo, Oslo, Norway. Department of Medical Genetics, Oslo University Hospital, Oslo, Norway.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.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.Department of Clinical Science, University of Bergen, Bergen, Norway. K.G. Jebsen Center for Autoimmune Diseases, University of Bergen, Bergen, Norway.

Pub Type(s)

Case Reports

Language

eng

PubMed ID

31611844

Citation

Aslaksen, Sigrid, et al. "Coexistence of Congenital Adrenal Hyperplasia and Autoimmune Addison's Disease." Frontiers in Endocrinology, vol. 10, 2019, p. 648.
Aslaksen S, Methlie P, Vigeland MD, et al. Coexistence of Congenital Adrenal Hyperplasia and Autoimmune Addison's Disease. Front Endocrinol (Lausanne). 2019;10:648.
Aslaksen, S., Methlie, P., Vigeland, M. D., Jøssang, D. E., Wolff, A. B., Sheng, Y., ... Bratland, E. (2019). Coexistence of Congenital Adrenal Hyperplasia and Autoimmune Addison's Disease. Frontiers in Endocrinology, 10, p. 648. doi:10.3389/fendo.2019.00648.
Aslaksen S, et al. Coexistence of Congenital Adrenal Hyperplasia and Autoimmune Addison's Disease. Front Endocrinol (Lausanne). 2019;10:648. PubMed PMID: 31611844.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Coexistence of Congenital Adrenal Hyperplasia and Autoimmune Addison's Disease. AU - Aslaksen,Sigrid, AU - Methlie,Paal, AU - Vigeland,Magnus D, AU - Jøssang,Dag E, AU - Wolff,Anette B, AU - Sheng,Ying, AU - Oftedal,Bergithe E, AU - Skinningsrud,Beate, AU - Undlien,Dag E, AU - Selmer,Kaja K, AU - Husebye,Eystein S, AU - Bratland,Eirik, Y1 - 2019/09/27/ PY - 2019/07/10/received PY - 2019/09/06/accepted PY - 2019/10/16/entrez PY - 2019/10/16/pubmed PY - 2019/10/16/medline KW - 3β-hydroxysteroid dehydrogenase type 2 deficiency KW - adrenal insufficiency KW - autoimmune Addison's disease KW - autoimmune adrenalitis KW - congenital adrenal hyperplasia SP - 648 EP - 648 JF - Frontiers in endocrinology JO - Front Endocrinol (Lausanne) VL - 10 N2 - 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. SN - 1664-2392 UR - https://www.unboundmedicine.com/medline/citation/31611844/Coexistence_of_Congenital_Adrenal_Hyperplasia_and_Autoimmune_Addison's_Disease L2 - https://doi.org/10.3389/fendo.2019.00648 DB - PRIME DP - Unbound Medicine ER -