Abstract
Blood samples for plasma steroid hormone determinations and molecular genotype analysis of the 21-hydroxylase gene (GYP21) 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.
Original language | English (US) |
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Pages (from-to) | 328-331 |
Number of pages | 4 |
Journal | Journal of Pediatrics |
Volume | 131 |
Issue number | 2 |
DOIs | |
State | Published - 1997 |
All Science Journal Classification (ASJC) codes
- Pediatrics, Perinatology, and Child Health