Congenital adrenal hyperplasia (CAH) is one of the important pediatric endocrine emegerencies in neonatal period. CAH occurs due to defect in the enzyme involved in steroid production.
The defect in enzyme cause alteration in adrenal mineralocorticoid and androgen secretion either too much or too less. There are multiple enzyme deficiency which can cause CAH among which the most common is 21 hydroxylase deficiency.
There are three forms:
The classical forms of CAH like simple virilising and salt wasting are treated by glucocorticoids and mineralocorticoids. The non-classic or late onset CAH is treated based on clinical presentation.
Salt wasting CAH can present with life threatening adrenal crises and if not diagnosed at time, can be fatal. At the same time, it is important that CAH is diagnosed properly and treated. Otherwise many children will be wrongly treated with steroids.
CAH children require treatment not only as a kid but also needs continued treatment as adults. One of the main aims of treatment is to ensure adequate growth, gonadal development and development of puberty at an appropriate age. Inappropriate treatment might compromise the height potential and result in early puberty. It is recommended to get treated by a qualified pediatric and adult endocrinologist for optimal well being.