Description - CAH is a family of disorders whose common feature is an enzymatic defect in the steroidogenic pathway leading to the biosynthesis of cortisol. The 21-hydroxylase enzyme deficiency accounts for 90-95% of CAH cases, resulting in ambiguous genitalia in females and salt-wasting crises in either males or females.
Clinical Features - Male infants with CAH usually appear normal at birth but may develop symptoms within the first two weeks of life. Female infants may appear normal or may show the effects of virilizing hormones: (an enlarged clitoris and fusion of the labia majora over the vaginal opening) and may also exhibit symptoms within the first two weeks of life. Infants with CAH do not appear ill at birth, but may experience salt losing crisis within the first two weeks of life (usually 10-14 days of age), which can lead to serious illness and death.
Treatment - Early detection and treatment is essential to prevent death in infants with salt losing CAH. The treatment of CAH is replacement hormone medications. Decisions about hormonal treatment should be made in consultation with a pediatric endocrinologist. Salt wasters need careful monitoring and lifelong medication adjustments. Those with virilization without salt wasting will also need hormone therapy to ensure normal growth, pubertal development and fertility. Babies with non-classical CAH may also be identified by newborn screening and will need monitoring and hormonal treatment as they grow older. Individual with CAH, if detected early and treated appropriately, will have normal growth, development and intellectual potential. Fertility is usually normal.