The diagnosis of the adrenogenital syndrome and its treatment with cortisone

Abstract

Summary Female pseudohermaphroditism due to congenital adrenal hyperplasia must be distinguished from certain types of genetic intersexuality. Postnatal virilization of females due to adrenal tumor or hyperplasia must be differentiated from “premature pubarche,” constitutional types of hirsutism, and arrhenoblastoma. Macrogenitosomia praecox due to adrenal hyperplasia or tumor in males must be differentiated from sexual precocity of constitutional type or due to an intracranial lesion. The diagnosis of the adrenogenital syndrome depends upon the demonstration of a high output of urinary 17-ketosteroids and clinical manifestations of excessive secretion of adrenal androgen. Adrenal hyperplasia can be distinguished from adrenal tumor by the fact that the administration of cortisone causes marked decrease in the output of 17-ketosteroids in cases of hyperplasia but not in those due to tumor. Treatment with relatively smalldoses of cortisone is effective in suppressing the excessive secretion of adrenal androgen without causing abnormal metabolic or toxic effects. The minimum maintenance dose of intramuscular or oral cortisone must be determined in each case, following the urinary 17-ketosteroids and the rates of somatic growth and development as guides. In individuals of either sex who have reached a level of somatic development comparable to that of puberty (i.e., a bone age of 11 years or greater) suppression of the adrenal hyperactivity with cortisone results promptly in normal adolescent sexual development corresponding to the sex of the patient. In more immature individuals progressive virilization is checked and precocious sexual development may not occur. With proper doses of cortisone somatic growth and development proceed normally. Excessive doses may inhibit them. The hypertension which occurs in some cases of adrenal hyperplasia is controlled by cortisone. In infants with congenital adrenal hyperplasia who have defective electrolyte metabolism, suppression of the abnormal adrenal hyperactivity with cortisone has a tendency to prevent Na loss so that smaller amounts of DCA and NaCl are required to regulate the electrolytes. After treatment with cortisone for one or two years, its omission for two or three months permits a partial return of the adrenal hyperactivity, but the 17-ketosteroids do not increase to as high a level as before treatment.