Diagnosis and management of congenital adrenal hyperplasia

Abstract

Congenital adrenal hyperplasia is the name applied to a class of autosomal recessive disorders resulting from deficiency of one of five enzymes necessary for cortisol synthesis by the adrenal cortex. Congenital adrenal hyperplasia is most often attributable to steroid 21-hydroxylase deficiency, accounting for more than 90% of cases. This discussion will be limited to the most common form of the disease, highlighting methods of diagnostic screening and challenges in disease management.

Keywords::

• adrenal hyperplasia
• congenital
• CYP21A2
• diagnosis
• glucocorticoids
• mineralocorticoids
• steroid 21-hydroxylase
• steroid 21-monooxygenase
• treatment