Abstract
Introduction. The adrenogenital syndrome with neonatal onset can manifest by repeated vomiting, dehydration and severe hydro-electrolytic disequilibria. The diagnostic approach, the metabolic re-equilibration and the maintenance of the electrolytic balance in normal ranges by chronic treatment can be associated with difficulties. 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 Pediatrics 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 afterwards for the elaboration of the differential diagnosis. Results. We identified persistent hyponatremia and hypopotassemia, an increased level of 17-OH progesterone (44.96 ng/ml) and the cortisol under the normal limit (3 ug/dl). We discovered significantly increased concentrations 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 adequate 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.
Highlights
The adrenogenital syndrome with neonatal onset can manifest by repeated vomiting, dehydration and severe hydro-electrolytic disequilibria
Taking under consideration the severity of the clinical manifestations, the adrenogenital syndrome can be divided in a classical form divided in the variant associated with salt loss and in that without loss of salt, and a non-classical form [1]
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
Summary
Vomiting are among the most frequent symptoms present in the pediatric age, being the consequence 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 adrenogenital syndrome represents a group of autosomal recessive transmission disorders caused by the deficit of one or multiple enzymes involved in the normal synthesis of the steroids from the three hormonal main classes: mineralocorticoids (aldosterone), glucocorticoids (cortisol) and sexual hormones. Taking under consideration the severity of the clinical 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]
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