Alexandra Latcu, Alina Grama, Lenuţa Popa, Lorena Elena Melit, Mihaela Chincesan and Oana Marginean

ABSTRACT

Introduction. The adrenogenital syndrome with neonatal onset can manifest by repeated vomiting, dehydration 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 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 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 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.

Keywords: vomiting, newborn, hyponatremia

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