Genitoplasty

Surgical Treatment

Once a child with adrenal hyperplasia has undergone medical evaluation and begun necessary treatment, the reconstructive aspects of care can be addressed. In conjunction with surgery, children with disorders of sexual differentiation should undergo counseling to help both the parents and child cope with physical and developmental anomalies caused by the syndrome.

Medical Treatment

The major cause of morbidity and mortality in children with adrenal hyperplasia is the salt-wasting crisis. The enzyme defects most commonly associated with mortality are the salt-wasting 21-hydroxylase defect and the 3B-hydroxysteroid dehydrogenase deficiency. Fatalities were commonplace in the past because this syndrome went unrecognized. In Hendren's landmark 1969 paper, all seven patients described were salt-wasting CAH females who were inappropriately assigned as males.

Enzymatic Defects

Pathophysiology

As noted before, the most common enzymatic defect is the 21-hydroxylase enzyme. Also common are 11B hydroxylase and 3B-hydroxysteroid dehydrogenase defects. When a defect occurs in this pathway, cortisol, the end product, is deficient or completely absent. ACTH becomes elevated due to impairment of the negative feedback loop. A buildup of steroid synthesis intermediaries occurs along with excess products of alternate adrenal hormonal pathways. Subsequently the adrenal achieves a state of hyperstimulation known as hyperplasia.