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Current Advances in the Management of Congenital Adrenal Hyperplasia.

Authors :
Bouliari A
Bullard F
Lin-Su K
Lekarev O
Source :
Advances in pediatrics [Adv Pediatr] 2024 Aug; Vol. 71 (1), pp. 135-149. Date of Electronic Publication: 2024 Mar 21.
Publication Year :
2024

Abstract

Congenital adrenal hyperplasia (CAH) is an autosomal recessive genetic condition caused by various enzyme deficiencies that result in disruptions of pathways of adrenal steroidogenesis. 21-hydroxylase deficiency is the most common form of CAH and has a variable phenotype which ranges a spectrum, from the most severe salt-wasting type to the simple-virilizing type and the least severe nonclassical form. Patients with CAH are at risk for various comorbidities due to the underlying adrenal hormone production imbalance as well as the treatment of the condition, which typically includes supraphysiologic glucocorticoid dosing. Children and adults require frequent monitoring and careful medication dosing adjustment. However, there are multiple novel therapies on the horizon that offer promise to patients with CAH in optimizing their treatment regimens and reducing the risk of comorbidities.<br />Competing Interests: Disclosure O. Lekarev: Medical and Scientific Advisory Board, CARES Foundation. Consultant, Neurocrine Biosciences. K.L. Su: Medical Director, CARES Foundation. A. Bouliari, F. Bullard: No disclosures.<br /> (Copyright © 2024 Elsevier Inc. All rights reserved.)

Details

Language :
English
ISSN :
1878-1926
Volume :
71
Issue :
1
Database :
MEDLINE
Journal :
Advances in pediatrics
Publication Type :
Academic Journal
Accession number :
38944479
Full Text :
https://doi.org/10.1016/j.yapd.2024.02.006