N Engl J Med. 2020; 383(13): 12481261.https://pubmed.ncbi.nlm.nih.gov/32966723/
Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is one of the most common autosomal recessive disorders. Patients with CAH have cortisol deficiency and in its most severe form, a potentially lethal aldosterone deficiency.
In this review, the authors describe the current knowledge regarding the genetic background of CAH, including CAH-X, a syndrome caused by disruption of the gene CYP21A2, leading to the 21-hydroxylase deficiency, and a gene located nearby, TNXB. The authors further elaborate on the diagnosis and clinical presentation of CAH during different stages of life. While the vast majority of patients with CAH survive, the disorder presents with various challenges in the long-term care and adverse outcomes may occur throughout the patients lifetime. These adverse outcomes may affect several aspects in health from metabolic to behavioral and cognitive effects. The main factor responsible for these outcomes is the difficulty in mimicking the normal circadian cortisol secretion. The authors further describe the clinical challenges of managing patients on a long-term basis and the current opinions regarding treatment. In summary, this article provides a comprehensive overview regarding the pathophysiological and genetic features of CAH. The review further summarizes the current views regarding its diagnosis, treatment, and management.