Further studies on the treatment of congenital adrenal hyperplasia with cortisone: IV. Effect of cortisone and compound B in infants with disturbed electrolyte metabolism

Three infants with female pseudohermaphrodism attributable to the salt-losing form of congenital adrenal hyperplasia (CAH; adrenogenital syndrome) followed for 14 to 20 months are described in detail. The first infant was admitted at the age of 7 weeks in adrenal crisis and studied intensively during a 557-day hospitalization; the second, an infant 7 weeks of age, was hospitalized for 7 1/2 months; and the third, a 9-week-old infant, was studied over a 5-month period. The effects of cortisone and corticosterone on the suppression of the abnormal adrenals, as reflected in the urinary excretion of 17-ketosteroids (17-KS) and on the electrolyte disturbance as manifested by changes in serum and urinary electrolytes and body weight, are described. Cortisone acetate produced more marked suppression of the adrenal overactivity per milligram (as assessed by the urinary excretion of 17-KS), but less sodium retention than corticosterone. Both steroids, however, improved the electrolyte abnormality significantly. The possible mechanism of action of cortisone on the disturbed electrolyte metabolism is considered. We suggest that cortisone can serve as a substitute for deficient "Na-retaining hormone," and/or it may act by suppressing secretions of the abnormal adrenals that possibly cause salt loss actively, either from the production of a specific "Na-losing" factor or from an antagonistic action of some of the steroids secreted by the abnormal adrenal gland against those hormones that normally regulate electrolyte metabolism. The studies in the three infants lead us to conclude that the electrolyte disturbance in patients with the salt-losing form of CAH is not merely simple deficiency of the adrenal salt hormone that appears to be associated with the zona glomerulosa of the adrenal cortex. The approach to the initial and long-term management of infants with the salt-losing form of CAH derived from the intensive study of these three infants is described. The critical importance of the use of adequate NaCl and fluids by intravenous administration initially to repair the electrolyte and fluid deficiencies and the hemodynamic abnormalities without the use of deoxycorticosterone acetate (DCA), if possible, in the initial treatment is emphasized because suppression of the adrenal with cortisone seems to alter materially the requirement for DCA. The final combination of the maintenance dose of cortisone acetate (either intramuscularly or orally) after initial high-dose pr