Salt Wasting 21-Hydroxylase Deficiency

Congenital adrenal hyperplasia (CAH) is a group of inherited disorders of cortisol biosynthesis in the adrenal cortex. 21-Hydroxylase deficiency (21-OHD) is the most common form of CAH. 21-OHD is further divided into classical and non-classical forms (NCAH). Most classical CAH patients have the salt wasting type of CAH (SW-CAH). The complete inability to produce cortisol and aldosterone in SW-CAH results in life-threatening salt wasting and adrenal crisis in the first few weeks of life without treatment, therefore 21-OHD is part of most neonatal screening programs. Alterations in adrenal hormone synthesis result in early androgen excess causing virilization symptoms in females both in utero and later in life. SW-CAH patients need lifelong hormone replacement therapy and close monitoring for not only endocrine but also numerous other health-related problems.