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

Congenital adrenal hyperplasia (CAH) is a group of genetic disorders affecting cortisol production, primarily due to 21-hydroxylase deficiency from CYP21A2 mutations. Since 2000, significant advancements have been made in understanding steroidogenic pathways, neonatal screening, and diagnostic techniques using chromatography and mass spectrometry. Improved genotyping methods have also been developed. Recent clinical trials have explored alternative medications and delivery methods, while genetic and cell-based treatments are under investigation. Additionally, disease registries have enhanced data on long-term outcomes, including psychosexual well-being, providing updated insights into CAH management and pathophysiology.