CONGENITAL ADRENAL HYPERPLASIA WITH PSEUDOHERMAPHRODISM AND SYMPTOMS OF ADDISON'S DISEASE*

Abstract

INTRODUCTION THIS case is presented because of the bearing of the metabolic studies upon the pathogenesis of Addisonian symptoms and because of the practical considerations involved in the performance of bilateral total adrenalectomy as well as the difficulties involved in the maintenance of life following this procedure. The syndrome of congenital adrenal hyperplasia causing macrogenitosomia precox in the male and pseudohermaphrodism in the female has been well described both as to the clinical and pathologic manifestations (1, 2, 3, 4, 5, 6 and 7). Few of these cases show lack of salt-retaining ability. Some require saline infusions in early infancy but can be maintained thereafter with no special therapy. Others constantly require a significant amount of additional salt in their diet, and finally, there are those who need additional salt and adrenal cortical hormone, such as the case now reported. CASE REPORT The patient was admitted to the Harriet Lane Home at the age of 13 days because of an abnormality of the external genitalia, jaundice and dehydration which persisted despite the administration of adequate amounts of parenteral fluid. She was the first offspring of the present marriage although her mother had had two healthy children by a previous marriage. She was born spontaneously at term in another hospital after an uneventful pregnancy. The birth weight was 5 lbs. 8 oz.