1 Chairman, University of Michigan School of Medicine, Ann Arbor, Mich.
Congenital adrenal hyperplasia in females causes pseudohermaphroditism which must be differentiated on the one hand from various types of genetic intersexuality and on the other from virilization due to adrenal tumor. In males it causes macrogenitosomia precox which must be differentiated from other types of sexual precocity and from adrenal tumor. The major manifestations of the disorder are due to the excessive secretion of adrenal androgen which causes progressive virilization throughout embryonic and postnatal life. In some cases there is a defect of electrolyte regulation which may head to death with Addisonian symptoms or heart block.
Partial adrenalectomy and the administration of estrogens or inert androgens have failed to check the progressive virilization, but cortisone has succeeded in doing so by suppressing the excessive activity of the abnormal adrenals. This effect of cortisone can be accomplished with small doses which do not exceed physiologic requirements, whereas in the treatment of hypersensitivity states and various other conditions large doses of cortisone are required for its pharmacodynamic action.
We have now treated 11 patients continuously for periods of 6 to 17 months without ill effects. It is important to determine in each case the minimum dose required to maintain adequate suppression of the adrenals. This is measured by the level of urinary 17 ketosteroids. In patients over 8 years the ketosteroid excretion should be maintained below 8 mg. per day (preferably 4 to 6 mg. per day) and in young infants at 0.5 to 1.5 mg. per day. This degree of suppression can be brought about rapidly in older children by the administration of 25 to 50 mg. of intramuscular cortisone daily.