Congenital adrenal hyperplasia is a group of diseases caused by the adrenal cortex hormone synthesis enzyme deficiency. It is a genetic disease caused by chromosome abnormality. Patients will have adrenal insufficiency symptoms. The external genitalia of new born girls have some features of new born boys. The external genitalia of new born boys have precocious puberty. Concurrent absence of aldosterone can cause symptoms of salt-losing (developmental stagnation, reduce blood volume and shock). Medication include glucocorticoid and mineralocorticoid. If there is acute adrenal failure, it should be treated accordingly. The external genitalia can be corrected surgically. Although congenital adrenal hyperplasia is fatal, most patients can live a normal life with proper treatment.
How is Congenital adrenal hyperplasia treated in practice?