Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: Epidemiology, Etiopathogenesis, Clinical Presentation, Treatment – A Systematic Review
June 2026
in “
Quality in Sport
”
congenital adrenal hyperplasia 21-hydroxylase deficiency adrenal steroidogenesis cortisol aldosterone adrenal androgens 17OHP hydrocortisone fludrocortisone CRF receptor antagonists ACTH secretion inhibitors gene therapy CAH cortisol deficiency aldosterone deficiency adrenal crisis 17-hydroxyprogesterone cortisol replacement fludrocortisone acetate
TLDR CAH requires a multidisciplinary approach, and while current treatments help, future therapies show promise.
Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is a complex autosomal recessive disorder affecting adrenal steroidogenesis, leading to cortisol and aldosterone deficiency and excess adrenal androgens. This systematic review highlights the disorder's broad clinical spectrum, necessitating a multidisciplinary approach for diagnosis and treatment. Universal newborn screening using 17OHP measurement has reduced mortality from adrenal crises, especially in boys. Current treatments with hydrocortisone and fludrocortisone are effective but imperfect, as they do not mimic the natural circadian rhythm of cortisol and carry long-term risks. Future therapeutic options, such as CRF receptor antagonists, ACTH secretion inhibitors, and gene therapy, are promising but not yet standard practice.
