| Abstrakt: |
The 21-hydroxylase deficiency is a monogenic disease, with a recessive autosomal transmission, which causes the disturbance of the synthesis of suprarenal corticoids. We present the case of a newborn, aged 17 days, male, timely delivered, mother's fourth child, with a mixed feeding, who was admitted to 2nd Pediatric Clinic of the Emergency Hospital in Craiova with lack of weight gain progress and agitation. The baby presented, the following day after admission, severe dehydration syndrome with a hypovolemic shock, without any signs of fever, vomiting or diarrheic stools. We suspected the salt-wasting syndrome, which was later confirmed. Although the mother initially declared that her other three children were healthy, she later admitted that her first child, a girl, was diagnosed with 21- hydroxylase. Following an emergency treatment, of hydroelectrolytic balancing, and continued with a specific treatment, the evolution was favorable. [ABSTRACT FROM AUTHOR] |
