Congenital adrenal hyperplasia (CAH) in neonates

This study investigated the clinical presentation and characteristics of neonates with congenital adrenal hyperplasia (CAH) and examined whether gender or age at diagnosis has any effects on clinical course. Neonates with CAH at a tertiary care center between January 1987 and December 2001 were included. Sixteen newborn CAH patients (7 boys and 9 girls) were enrolled. We reviewed their medical records and found that most of the patients presented with poor feeding or vomiting or ambiguous genitalia. The mean age at diagnosis in the boys was older than that in girls (18.9 ± 7.2 days vs 10.1 ± 7.0 days, p<0.05) and the lengths of hospitalization for boys and girls were 13.6±12.8 days and 9.8±9.6 days, respectively. In conclusion, the majority of CAH cases (94%) diagnosed in the neonatal stage were the salt-wasting type. The disease usually presents with gastrointestinal symptoms or ambiguous genitalia. Boys are less likely to be diagnosed early. Therefore, newborn screening for CAH may be warranted.