Congenital Adrenal Hyperplasia-Current Insights in Pathophysiology, Diagnostics, and Management.

ABSTRACT: Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders affecting cortisol biosynthesis. Reduced activity of an enzyme required for cortisol production leads to chronic overstimulation of the adrenal cortex and accumulation of precursors proximal to the blocked enzymatic step. The most common form of CAH is caused by steroid 21-hydroxylase deficiency due to mutations in CYP21A2. Since the last publication summarizing CAH in Endocrine Reviews in 2000, there have been numerous new developments. These include more detailed understanding of steroidogenic pathways, refinements in neonatal screening, improved diagnostic measurements utilizing chromatography and mass spectrometry coupled with steroid profiling, and improved genotyping methods. Clinical trials of alternati

SUBMITTER: Claahsen-van der Grinten HL 

PROVIDER: S-EPMC8755999 | biostudies-literature | 2022 Jan

REPOSITORIES: biostudies-literature