Pofi, R. orcid.org/0000-0001-7808-5735, Ji, X., Krone, N.P. orcid.org/0000-0002-3402-4727 et al. (1 more author) (2024) Long‐term health consequences of congenital adrenal hyperplasia. Clinical Endocrinology, 101 (4). pp. 318-331. ISSN 0300-0664
Abstract
Congenital adrenal hyperplasia (CAH) caused by 21‐hydroxylase deficiency accountsfor 95% of all CAH cases and is one of the most common inborn metabolicconditions. The introduction of life‐saving glucocorticoid replacement therapy 70years ago has changed the perception of CAH from a paediatric disorder into alifelong, chronic condition affecting patients of all age groups. Alongside healthproblems that can develop during the time of paediatric care, there is an emergingbody of evidence suggesting an increased risk of developing co‐morbidities duringadult life in patients with CAH. The mechanisms that drive the negative long‐termoutcomes associated with CAH are complex and involve supraphysiologicalreplacement therapies (glucocorticoids and mineralocorticoids), excess adrenalandrogens both in the intrauterine and postnatal life, elevated steroid precursorsand adrenocorticotropic hormone levels. Alongside a review of mortality outcome,we discuss issues that need to be addressed when caring for the CAH patientincluding female and male fertility, cardio‐metabolic morbidity, bone health andother important long‐term outcomes of CAH.
Metadata
Item Type: | Article |
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Authors/Creators: |
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Copyright, Publisher and Additional Information: | © 2023 The Authors. Clinical Endocrinology published by John Wiley & Sons Ltd. This is an open access article under the terms of the Creative Commons Attribution-NonCommercial License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited and is not used for commercial purposes (https://creativecommons.org/licenses/by-nc/4.0/). |
Keywords: | congenital adrenal hyperplasia; glucocorticoid; long-term mineralocorticoid; outcome |
Dates: |
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Institution: | The University of Sheffield |
Academic Units: | The University of Sheffield > Faculty of Medicine, Dentistry and Health (Sheffield) > Department of Human Metabolism (Sheffield) The University of Sheffield > Faculty of Medicine, Dentistry and Health (Sheffield) > Department of Oncology (Sheffield) The University of Sheffield > Faculty of Medicine, Dentistry and Health (Sheffield) > School of Medicine and Population Health |
Depositing User: | Symplectic Sheffield |
Date Deposited: | 14 Sep 2023 08:41 |
Last Modified: | 24 Oct 2024 14:46 |
Status: | Published |
Publisher: | Wiley |
Refereed: | Yes |
Identification Number: | 10.1111/cen.14967 |
Open Archives Initiative ID (OAI ID): | oai:eprints.whiterose.ac.uk:203267 |