Congenital Adrenal Hyperplasia: Current Insights in Pathophysiology, Diagnostics, and Management

The review discussed congenital adrenal hyperplasia (CAH), emphasizing advancements in pathophysiology, diagnostics, and management. CAH was mainly caused by 21-hydroxylase deficiency due to CYP21A2 gene mutations, affecting cortisol biosynthesis. Since 2000, there were significant developments in understanding steroidogenic pathways, neonatal screening, and diagnostic techniques using chromatography and mass spectrometry. Clinical trials investigated alternative medications and delivery methods, while genetic and cell-based treatments were explored. Disease registries improved knowledge of long-term outcomes, including psychosexual well-being. The review highlighted new therapeutic approaches, such as circadian cortisol replacement and gene therapy, targeting various aspects of CAH pathophysiology.