Congenital Adrenal Hyperplasia: Current Insights in Pathophysiology, Diagnostics, and Management
May 2021
in “
Endocrine Reviews
”

TLDR Early diagnosis and individualized treatment improve outcomes for Congenital Adrenal Hyperplasia.
The 2021 review on Congenital Adrenal Hyperplasia (CAH) provided comprehensive insights into the disorder's pathophysiology, particularly focusing on 21-hydroxylase deficiency due to CYP21A2 gene mutations. It highlighted advancements in diagnostics, such as LC-MS/MS and genotyping, and discussed ongoing clinical trials for alternative treatments, including genetic and cell-based therapies. The review emphasized the importance of early diagnosis through neonatal screening, which significantly improved outcomes, and the need for individualized treatment plans to manage symptoms and prevent complications. It also addressed the psychological and social impacts, fertility issues, and the necessity for a multidisciplinary approach to care, especially during the transition from pediatric to adult healthcare. Despite these advancements, the review noted that medical care for CAH remained suboptimal, with increased risks of cardiovascular and metabolic morbidities.