TY - JOUR T1 - Recommendations for the diagnosis and treatment of classic forms of 21-hydroxylase-deficient congenital adrenal hyperplasia JO - Anales de Pediatría (English Edition) T2 - AU - Rodríguez,Amparo AU - Ezquieta,Begoña AU - Labarta,José Igancio AU - Clemente,María AU - Espino,Rafael AU - Rodriguez,Amaia AU - Escribano,Aranzazu SN - 23412879 M3 - 10.1016/j.anpede.2016.12.002 DO - 10.1016/j.anpede.2016.12.002 UR - https://www.analesdepediatria.org/en-recommendations-for-diagnosis-treatment-classic-articulo-S2341287917301023 AB - Congenital adrenal hyperplasia due to 21-hydroxylase deficiency is an autosomal recessive disorder caused by mutations in the CYP21A2 gene. Cortisol and aldosterone synthesis are impaired in the classic forms (adrenal insufficiency and salt-wasting crisis). Females affected are virilised at birth, and are at risk for genital ambiguity. In this article, we give recommendations for an early as possible diagnosis and an appropriate and individualised treatment. A patient and family genetic study is essential for the diagnosis of the patient, and allows genetic counselling, as well as a prenatal diagnosis and treatment for future pregnancy. ER -