Current Advances in the Management of Congenital Adrenal Hyperplasia. Review uri icon

Overview

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.

publication date

  • March 21, 2024

Research

keywords

  • Adrenal Hyperplasia, Congenital
  • Glucocorticoids

Identity

Scopus Document Identifier

  • 85188658937

Digital Object Identifier (DOI)

  • 10.1016/j.yapd.2024.02.006

PubMed ID

  • 38944479

Additional Document Info

volume

  • 71

issue

  • 1