New advances in diagnosis and treatment of 21-hydroxylase deficiency / 中华实用儿科临床杂志

ABSTRACT

21-hydroxylase deficiency (21-OHD) is an autosomal recessive hereditary disease, which results in reduced synthesis of aldosterone and cortisol and increased adrenal androgens due to lack or reduced activity of 21-hydroxylase during the synthesis of adrenal steroids.In recent years, the " backdoor" metabolic pathway of adrenal androgen synthesis and the role of adrenal specific 11-oxygenated C19 steroid in 21-OHD have been recognized, and some adrenal specific androgen sources are gradually becoming diagnostic and therapeutic indicators for 21-OHD.On basis of original glucocorticoid and salt corticosteroid replacement therapy, new drugs and treatments are gradually developed and applied in clinical practice.Nov, the latest progress in diagnosis, treatment and monitoring of 21-OHD is reviewed.