Newborn screening for 21-hydroxylase deficiency: results of CYP21 molecular genetic analysis.
case_series · Level IV
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Abstract
Blood samples for plasma steroid hormone determinations and molecular genotype analysis of the 21-hydroxylase gene (CYP21) were obtained from 15 infants identified through a voluntary newborn screening program. Mutations were identified on both CYP21 alleles in 12 (80%) of 15 infants; all had confirmatory plasma 17-hydroxyprogesterone concentrations > 3500 ng/dl. No patient was found to carry mutations associated with late-onset 21-hydroxylase deficiency. Newborn screening hastened diagnosis in eight infants.
Medical subject headings
- Adrenal Hyperplasia, Congenital
- Neonatal Screening