39 CONGENITAL ADRENAL INSUFFICIENCY BY RESISTANCE TO ACTH IN TWO PEDIATRIC PATIENTS

Abstract

Since 1959, only a few cases have been described of congenital adrenal insufficiency by isolate glucocorticoid deficiency of the familial type, in which resistance to ACTH is postulated. We present 2 cases, TNB, females without perinatal pathology, which presented severe hypoglyoemia with convulsions in the neonatal period, progressive skin pigrentation, with normal external genitals, normotense, and with normal electrolites during the whole evolution. Both cases had normal adrenal ultrasound; hypoglyoemia decreased readily with the Cortisol treatment, and a good pondoestatural increment was doserved as well as a reduction of the skin pigmentation after 30 days. According to what has been reported in the literature, we postulate that the isolate glucocoxticoid deficiency found in these two cases is due to a primary defect in the resistance to ACIH, located in the adrenal cortex, characterized by hypoplasia of the zona fasciculata and normality of the glomerulose zone. Athougt it is nor too frequent, this pathology must be suspected in newborns with hyperpigmentation, convulsions and hypoglyoemia without mineralocortiooid involvement, since a timely diagnosis is vital for the adequate treatment.