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.
Publication types
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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17-alpha-Hydroxyprogesterone / blood
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Adrenal Hyperplasia, Congenital* / diagnosis
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Adrenal Hyperplasia, Congenital* / genetics
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Adrenal Hyperplasia, Congenital* / prevention & control
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Alleles
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Androstenedione / blood
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Exons / genetics
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Female
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Gene Conversion / genetics
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Genotype
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Humans
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Infant, Newborn
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Introns / genetics
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Male
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Mineralocorticoids / therapeutic use
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Molecular Biology
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Mutation / genetics
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Neonatal Screening*
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Nucleic Acid Hybridization
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Phenotype
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Polymerase Chain Reaction
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Polymorphism, Restriction Fragment Length
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Polymorphism, Single-Stranded Conformational
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Progesterone / blood
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RNA Splicing / genetics
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Sequence Analysis, DNA
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Steroid 21-Hydroxylase / blood
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Steroid 21-Hydroxylase / genetics
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Virilism / diagnosis
Substances
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Mineralocorticoids
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Androstenedione
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Progesterone
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17-alpha-Hydroxyprogesterone
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Steroid 21-Hydroxylase