DISCUSSION

The importance of description of these patients is to call attention to the tenuous hold on life of the patient with adrenal hyperplasia prior to the institution of replacement therapy. Virilization in the female should serve as an alerting signal. An infant with ambiguous genitals should be considered to have adrenal hyperplasia until proved otherwise. Glucocorticoid therapy should be initiated before any stressful procedure is undertaken. The management of these patients was far from optimal. However, patients with this disease are often seen by physicians with little or no experience with adrenal hyperplasia. They are often referred directly to a urologist for investigation of the abnormal anatomy. It is difficult to build an argument for intravenous pyelography in such a patient. The media employed are hypertonic; they are capable of increasing serum osmolarity and lowering serum sodium concentrations in normal infants? The anatomy is better demonstrated by the injection of contrast material into the urogenital sinus. Even this procedure should only be done after the diagnosis has been confirmed and appropriate therapy initiated. In a patient lacking glucocorticoid, shock and death may follow very minor stress.

Delay in definitive diagnosis after it is suspected is almost the rule in patients with this disorder. Problems with the collection of a 24-hour urine are frequent. After collection there may be delay in analysis. This should not occur for the 17-ketosteroid assay, which is routinely available. However, the level may be normal in a very young infant with adrenal hyperplasia. Most hospitals secure analysis of pregnanetriol elsewhere, ensuring a sizeable delay. This period is dangerous for the baby, for it is tempting to utilize the time in hospital to carry out investigative procedures which may be stressful. Another danger we have seen is that the baby might be sent home. The best solution to these problems is to make the diagnosis promptly by analysis of the blood for one of the steroids which accumulate in these patients: 17-a-hydroxyprogesterone, progesterone, dehydroepiandrosterone, or testosterone: