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Review
. 2024 Aug;71(1):135-149.
doi: 10.1016/j.yapd.2024.02.006. Epub 2024 Mar 21.

Current Advances in the Management of Congenital Adrenal Hyperplasia

Affiliations
Review

Current Advances in the Management of Congenital Adrenal Hyperplasia

Athanasia Bouliari et al. Adv Pediatr. 2024 Aug.

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.

Keywords: 21-Hydroxylase deficiency; Adrenal insufficiency; Atypical genitalia; Congenital adrenal hyperplasia.

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Conflict of interest statement

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.

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