[Recommendations for the diagnosis and treatment of classic forms of 21-hydroxylase-deficient congenital adrenal hyperplasia].
- Amparo Rodríguez,
- Begoña Ezquieta,
- José Igancio Labarta,
- María Clemente,
- Rafael Espino,
- Amaia Rodriguez,
- Aranzazu Escribano,
An Pediatr (Barc) 2017 Feb 1. Epub 2017 Feb 1.
Hospital Clínico Universitario Virgen Arrixaca, Murcia, España.
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. Read More