Autoimmune primary adrenal insufficiency -current diagnostic approaches and future perspectives
The adrenal glands are small endocrine glands located on top of each kidney, producing hormones regulating important functions in our body like metabolism and stress. There are several underlying causes for adrenal insufficiency, where an autoimmune attack by the immune system is the most common cau...
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2023-11-01
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| Series: | Frontiers in Endocrinology |
| Subjects: | |
| Online Access: | https://www.frontiersin.org/articles/10.3389/fendo.2023.1285901/full |
| _version_ | 1797629433270501376 |
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| author | Anette S. B. Wolff Anette S. B. Wolff Isil Kucuka Bergithe E. Oftedal Bergithe E. Oftedal |
| author_facet | Anette S. B. Wolff Anette S. B. Wolff Isil Kucuka Bergithe E. Oftedal Bergithe E. Oftedal |
| author_sort | Anette S. B. Wolff |
| collection | DOAJ |
| description | The adrenal glands are small endocrine glands located on top of each kidney, producing hormones regulating important functions in our body like metabolism and stress. There are several underlying causes for adrenal insufficiency, where an autoimmune attack by the immune system is the most common cause. A number of genes are known to confer early onset adrenal disease in monogenic inheritance patterns, usually genetic encoding enzymes of adrenal steroidogenesis. Autoimmune primary adrenal insufficiency is usually a polygenic disease where our information recently has increased due to genome association studies. In this review, we go through the physiology of the adrenals before explaining the different reasons for adrenal insufficiency with a particular focus on autoimmune primary adrenal insufficiency. We will give a clinical overview including diagnosis and current treatment, before giving an overview of the genetic causes including monogenetic reasons for adrenal insufficiency and the polygenic background and inheritance pattern in autoimmune adrenal insufficiency. We will then look at the autoimmune mechanisms underlying autoimmune adrenal insufficiency and how autoantibodies are important for diagnosis. We end with a discussion on how to move the field forward emphasizing on the clinical workup, early identification, and potential targeted treatment of autoimmune PAI. |
| first_indexed | 2024-03-11T10:54:17Z |
| format | Article |
| id | doaj.art-89703f9100d44adf814c5886b582fa3a |
| institution | Directory Open Access Journal |
| issn | 1664-2392 |
| language | English |
| last_indexed | 2024-03-11T10:54:17Z |
| publishDate | 2023-11-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Endocrinology |
| spelling | doaj.art-89703f9100d44adf814c5886b582fa3a2023-11-13T11:55:06ZengFrontiers Media S.A.Frontiers in Endocrinology1664-23922023-11-011410.3389/fendo.2023.12859011285901Autoimmune primary adrenal insufficiency -current diagnostic approaches and future perspectivesAnette S. B. Wolff0Anette S. B. Wolff1Isil Kucuka2Bergithe E. Oftedal3Bergithe E. Oftedal4Department of Clinical Science, University of Bergen, Bergen, NorwayDepartment of Medicine, Haukeland University Hospital, Bergen, NorwayDepartment of Clinical Science, University of Bergen, Bergen, NorwayDepartment of Clinical Science, University of Bergen, Bergen, NorwayDepartment of Medicine, Haukeland University Hospital, Bergen, NorwayThe adrenal glands are small endocrine glands located on top of each kidney, producing hormones regulating important functions in our body like metabolism and stress. There are several underlying causes for adrenal insufficiency, where an autoimmune attack by the immune system is the most common cause. A number of genes are known to confer early onset adrenal disease in monogenic inheritance patterns, usually genetic encoding enzymes of adrenal steroidogenesis. Autoimmune primary adrenal insufficiency is usually a polygenic disease where our information recently has increased due to genome association studies. In this review, we go through the physiology of the adrenals before explaining the different reasons for adrenal insufficiency with a particular focus on autoimmune primary adrenal insufficiency. We will give a clinical overview including diagnosis and current treatment, before giving an overview of the genetic causes including monogenetic reasons for adrenal insufficiency and the polygenic background and inheritance pattern in autoimmune adrenal insufficiency. We will then look at the autoimmune mechanisms underlying autoimmune adrenal insufficiency and how autoantibodies are important for diagnosis. We end with a discussion on how to move the field forward emphasizing on the clinical workup, early identification, and potential targeted treatment of autoimmune PAI.https://www.frontiersin.org/articles/10.3389/fendo.2023.1285901/fullprimary adrenal insufficiency (PAI)glucococorticoids21-hydroxylase autoantibodiesAddisons diseaseGenetic causes of PAI |
| spellingShingle | Anette S. B. Wolff Anette S. B. Wolff Isil Kucuka Bergithe E. Oftedal Bergithe E. Oftedal Autoimmune primary adrenal insufficiency -current diagnostic approaches and future perspectives Frontiers in Endocrinology primary adrenal insufficiency (PAI) glucococorticoids 21-hydroxylase autoantibodies Addisons disease Genetic causes of PAI |
| title | Autoimmune primary adrenal insufficiency -current diagnostic approaches and future perspectives |
| title_full | Autoimmune primary adrenal insufficiency -current diagnostic approaches and future perspectives |
| title_fullStr | Autoimmune primary adrenal insufficiency -current diagnostic approaches and future perspectives |
| title_full_unstemmed | Autoimmune primary adrenal insufficiency -current diagnostic approaches and future perspectives |
| title_short | Autoimmune primary adrenal insufficiency -current diagnostic approaches and future perspectives |
| title_sort | autoimmune primary adrenal insufficiency current diagnostic approaches and future perspectives |
| topic | primary adrenal insufficiency (PAI) glucococorticoids 21-hydroxylase autoantibodies Addisons disease Genetic causes of PAI |
| url | https://www.frontiersin.org/articles/10.3389/fendo.2023.1285901/full |
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