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

May 2021 in “ Endocrine Reviews ”

Hedi L Claahsen-van der Grinten, Phyllis Speiser, S Faisal Ahmed, Wiebke Arlt, Richard J. Auchus, Henrik Falhammar, Christa E. Flück, Leonardo Guasti, Angela Huebner, Barbara Kortmann, Nils Krone, Deborah P. Merke, Walter L. Miller, Anna Nordenström, Nicole Reisch, David E. Sandberg, Nike M. M. L. Stikkelbroeck, P. Touraine, Agustini Utari, Stefan A. Wudy, Perrin C. White

Congenital Adrenal Hyperplasia 21-hydroxylase deficiency CYP21A2 gene mutations LC-MS/MS genotyping genetic therapies cell-based therapies neonatal screening cardiovascular morbidities metabolic morbidities CAH liquid chromatography-mass spectrometry gene testing

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.

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