REVIEW article
Front. Endocrinol.
Sec. Adrenal Endocrinology
Volume 16 - 2025 | doi: 10.3389/fendo.2025.1581681
This article is part of the Research TopicComorbidities of adrenal-related endocrine disordersView all 7 articles
Endothelial Dysfunction in Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency: Current Knowledge and Novel Biomarkers
Provisionally accepted
Joanna Hubska1,2*
Zuzanna Roszkowska3
Malgorzata Bobrowicz1Sebastian ? Iwaniuk3
Beata Rak-Makowska1,4
Urszula Ambroziak1- 1Department of Internal Medicine and Endocrinology, Medical University of Warsaw, Warsaw, Poland
- 2Doctoral School of Medical University of Warsaw, Warsaw, Poland
- 3Student Scientific Club "Endocrinus" Affiliated to the Department of Internal Medicine and Endocrinology, Medical University of Warsaw, Warsaw, Poland
- 4Laboratory of Experimental Medicine, Medical University of Warsaw, Warsaw, Masovian, Poland
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Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD) is a complex endocrine disorder characterized by impaired cor?sol synthesis and androgen excess. Beyond its hormonal and metabolic implica?ons, CAH has been increasingly associated with an elevated risk of cardiovascular complica?ons, including endothelial dysfunc?on -a cri?cal precursor to atherosclerosis and a risk factor for cardiovascular and metabolic diseases. This review explores the current knowledge on endothelial func?on in pa?ents with CAH, focusing on the interplay between chronic hormonal imbalance, prolonged glucocor?coid treatment, and associated metabolic disorders. We also discuss in vivo methods for assessing endothelial func?on alongside the poten?al u?lity of novel biomarkers, which may facilitate earlier iden?fica?on of vascular dysfunc?on and stra?fica?on of cardiovascular risk. By summarizing emerging concepts in this field, we aim to highlight areas for future research and opportuni?es for improving long-term cardiovascular outcomes in individuals with 21OHD.Congenital adrenal hyperplasia (CAH), due to 21-hydroxylase deficiency (21-OHD), is an autosomal recessive condi?on that is caused by muta?ons in the gene CYP21A2. It is characterized by impaired cor?sol secre?on and androgen excess. 21-OHD is the most common cause of CAH, accoun?ng for 95% of cases (1). Based on the residual enzyme ac?vity, CAH shows a spectrum of phenotypes, varying from a severe classic CAH (CCAH), usually diagnosed in newborns, to a non-classic CAH (NCCAH), which is a mild variant ogen diagnosed late, if ever. CCAH is classified into two forms based on aldosterone deficiency: salt-was?ng -usunięto: Endo-PAT
Keywords: Congenital adrenal hyperplasia (CAH), 21-hydroxylase deficiency, endothelial dysfunction, endothelial biomarkers, cardiovascular disease, cardiovascular risk
Received: 22 Feb 2025; Accepted: 12 May 2025.
Copyright: © 2025 Hubska, Roszkowska, Bobrowicz, Iwaniuk, Rak-Makowska and Ambroziak. 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) or licensor 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.
* Correspondence: Joanna Hubska, Department of Internal Medicine and Endocrinology, Medical University of Warsaw, Warsaw, Poland
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