Avaliação do perfil clínico epidemiológico de pacientes com hiperplasia congênita de suprarrenal.

Abstract

The Congenital Adrenal Hyperplasia (CAH) describes a group of autosomal recessive inheritance disorders, characterized by the reduction activity of the enzyme involved in synthesis of cortisol, the most common defect is in the 21-hydroxylase. The CAH has a large clinical spectrum, presentations with degrees of virilization in different age groups; severe forms are classified as classical. The level of

aldosterone deficiency determines the form of CAH as Salt-Losing or Not-Salt- Losing. An analytical observational cross-sectional prevalence survey was

performed, with aiming to establish clinical-epidemiological characteristics using data from patients with CAH followed at the Pediatric Endocrinology, University Hospital Alcides Carneiro (HUAC). Forty patients were reported with the classic form of CAH, and were 60% Salt-Losing, 40% Not-Salt-Losing; they come from 20 Paraiba ́s cities, with the highest number of the cases in Campina Grande and Gado Bravo. There was a record 28.9% of patients with cases in the family and presence of inbreeding in 15.8%. The age at start of the treatment was significantly lower in Salt-Losing than in Not-Salt-Losing (1 month and 2 years 8 months, respectively; p<0,001), as severity and timing of clinical manifestations. Diagnosis was precipitated by dehydration (40%) and ambiguous genitalia/ enlarged clitoris (32.5%), which are the most quoted. Neonatal screening was performed in 12.5% of the patients. In the chart height x age, 44% were fall position relative to the first assessment. The bone age was higher than chronological age in most cases (64% in the first record and 73.6% in the second). Glucocorticoids have been used prednisolone (47.5%), hydrocortisone (27.5%) and cortisone acetate (2.5%); the mineralocorticoid replacement has been done in 65.5% of the cases. In conclusion, the clinical features of CAH are easy to recognize; attention to the most frequent signs and neonatal screening, with early initiation of treatment, may lead to improvements in prognosis. The high cases in family and parental inbreeding point to lack of genetic counseling.