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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...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10667925/ https://www.ncbi.nlm.nih.gov/pubmed/38027140 http://dx.doi.org/10.3389/fendo.2023.1285901 |
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author | Wolff, Anette S. B. Kucuka, Isil Oftedal, Bergithe E. |
author_facet | Wolff, Anette S. B. Kucuka, Isil Oftedal, Bergithe E. |
author_sort | Wolff, Anette S. B. |
collection | PubMed |
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. |
format | Online Article Text |
id | pubmed-10667925 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
spelling | pubmed-106679252023-01-01 Autoimmune primary adrenal insufficiency -current diagnostic approaches and future perspectives Wolff, Anette S. B. Kucuka, Isil Oftedal, Bergithe E. Front Endocrinol (Lausanne) Endocrinology 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. Frontiers Media S.A. 2023-11-10 /pmc/articles/PMC10667925/ /pubmed/38027140 http://dx.doi.org/10.3389/fendo.2023.1285901 Text en Copyright © 2023 Wolff, Kucuka and Oftedal https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms. |
spellingShingle | Endocrinology Wolff, Anette S. B. Kucuka, Isil Oftedal, Bergithe E. Autoimmune primary adrenal insufficiency -current diagnostic approaches and future perspectives |
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 | Endocrinology |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10667925/ https://www.ncbi.nlm.nih.gov/pubmed/38027140 http://dx.doi.org/10.3389/fendo.2023.1285901 |
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