REVISTA ROMÂNÅ DE PEDIATRIE – VOLUMUL LXV, NR. 2, AN 2016 177 Corresponding author: Oana Marginean, University of Medicine and Pharmacy, 38 Gh. Marinescu Street, Targu-Mures E-mail: marginean.oana@gmail.com POSSIBILITIES AND THERAPY LIMITATIONS IN A CASE OF ADRENOGENITAL SYNDROME Alina Grama 1 , Oana Marginean 1 , Lenuta Popa 2 , Lorena Elena Melit 1 , Alexandra Latcu 3 , Mihaela Chincesan 1 1 Pediatrics Department I, University of Medicine and Pharmacy, Targu-Mures 2 Pediatrics Department I, University of Medicine and Pharmacy, Cluj Napoca 3 Clinical County Hospital, Targu-Mures ABSTRACT Introduction. The adrenogenital syndrome with neonatal onset can manifest by repeated vomiting, dehydra- tion and severe hydro-electrolytic disequilibria. The diagnostic approach, the metabolic reequilibration and the maintenance of the electrolytic balance in normal ranges by chronic treatment can be associated with difficul- ties. Objective. We present a case of adrenogenital syndrome with severe neonatal onset, evolution accompanied by different complications, but with a prognosis improved by the adequate chronic treatment. Material and method. A male child with small birth weight, was admitted in the Pediatrcs Clinic I, Targu-Mures, at the age of 3 weeks, with a severe clinic-biological syndrome by chronic vomiting and severe dehydration, and apparent macrogenitosomia. We performed a wide spectrum of investigations in acute phase, but also after- wards for the elaboration of the differential diagnosis. Results. We identified persistent hyponatremia and hypopotassemia, an increased level of 17-OH progester- one (44.96 ng/ml) and the cortisol under the normal limit (3 ug/dl). We discovered significantly increased con- centrations of ACTH (103 pg/ml in the morning) and total serum cholesterol (186.72 ng/dl). The macromolecular analysis pointed out the heterozygote genotype for the following mutations: 12G, R356W, P453S. The ade- quate chronic treatment with cortisone improved the prognosis; at the age of 1 years and 5 months, he presents an adequate height, weight and psychomotor development. Conclusions. We fulfilled the conditions of the diagnosis of adrenogenital syndrome with neonatal onset in a heterozygote child. The small age the uncharacteristic symptomatology can be a burden for establishing an early diagnosis of adrenogenital syndrome. Keywords: vomiting, newborn, hyponatremia CASE PRESENTATIONS INTRODUCTION Vomiting are among the most frequent symp- toms present in the pediatric age, being the conse- quence of some infectious or metabolic disorders, obstructions at different levels of the digestive tract, neuropsychiatric disorders or they can appear after the intake of some toxic substances. The congenital adrenal hyperplasia the adreno- genital syndrome represents a group of autosomal recessive transmission disorders caused by the def- icit of one or multiple enzymes involved in the nor- mal synthesis of the steroids from the three hor- monal main classes: mineralocorticoids (aldosterone), glucocorticoids (cortisol) and sexual hormones. Taking under consideration the severity of the clin- ical manifestations, the adrenogenital syndrome can be divided in a classical form (severe, with neonatal onset) divided in the variant associated with salt loss and in that without loss of salt, and a non-classical form (criptogenetic, with late onset) (1). The diagnosis of adrenogenital syndrome by deficit of 21-hydroxilase is established through the quantitative determination of the steroid hormones and their precursors (2,3). CASE PRESENTATION We present the case of a patient with persistent vomiting and severe dehydration even since the neonatal period, admitted in the Pediatrics Clinic 1, Targu-Mures, at the age of 26 days. From the here- do-collateral antecedents, we mention the lactose intolerance in one of the family members, the mother with obesity and uninvestigated hirsutism.