NEWBORN SCREENING FOR 21-HYDROXYLASE DEFICIENCY - RESULTS OF CYP21 MOLECULAR-GENETIC ANALYSIS

Blood samples for plasma steroid hormone determinations and molecular genotype analysis of the 21-hydroxylase gene (CYP21) were obtained fro m 15 infants identified through a voluntary newborn screening program. Mutations were identified on both CYP21 alleles in 12 (80%) of 15 inf ants; all had confirmatory plasma 17-hydroxypro-gesterone concentratio ns > 3500 ng/dl. No patient was found to carry mutations associated wi th late-onset 21-hydroxylase deficiency. Newborn screening hastened di agnosis in eight infants.