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. The diagnosis was only established when each child underwent an adrenal crisis in the first month of life.
Identification of a salt-wasting component is essential, and consultation with a pediatric endocrinologist is necessary to implement proper treatment. Glucocorticoids are given to replace the absent cortisol. Steroid replacement is also required to suppress ACTH so that additional excess androgen production is avoided. In females with CAH, glucocorticoid replacement is also necessary to prevent the stigmata of hyperandrogenism such as alopecia, acne, irregular menses and infertility.
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