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 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.
Witchel
S F
SF
Department of Pediatrics, Children's Hospital of Pittsburgh, University of Pittsburgh, Pennsylvania, USA.
Nayak
S
S
Suda-Hartman
M
M
Lee
P A
PA
D019326:17-alpha-Hydroxyprogesterone / Q000097:blood; D000312:Adrenal Hyperplasia, Congenital / Q000175:diagnosis / Q000235:genetics / Q000517:prevention & control; D000483:Alleles; D000735:Androstenedione / Q000097:blood; D005091:Exons / Q000235:genetics; D005260:Female; D005785:Gene Conversion / Q000235:genetics; D005838:Genotype; D006801:Humans; D007231:Infant, Newborn; D007438:Introns / Q000235:genetics; D008297:Male; D008901:Mineralocorticoids / Q000627:therapeutic use; D008967:Molecular Biology; D009154:Mutation / Q000235:genetics; D015997:Neonatal Screening; D009693:Nucleic Acid Hybridization; D010641:Phenotype; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D018807:Polymorphism, Single-Stranded Conformational; D011374:Progesterone / Q000097:blood; D012326:RNA Splicing / Q000235:genetics; D017422:Sequence Analysis, DNA; D013255:Steroid 21-Hydroxylase / Q000097:blood / Q000235:genetics; D014770:Virilism / Q000175:diagnosis
D008901:Mineralocorticoids; D000735:Androstenedione; D011374:Progesterone; D019326:17-alpha-Hydroxyprogesterone; D013255:Steroid 21-Hydroxylase