Newborn screening for 21-hydroxylase deficiency: Results of CYP21 molecular genetic analysis

S. F. Witchel, S. Nayak, M. Suda-Hartman, Peter Lee

Research output: Contribution to journalArticle

33 Citations (Scopus)

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 languageEnglish (US)
Pages (from-to)328-331
Number of pages4
JournalJournal of Pediatrics
Volume131
Issue number2
DOIs
StatePublished - Jan 1 1997

Fingerprint

Molecular Biology
Newborn Infant
17-alpha-Hydroxyprogesterone
Steroid 21-Hydroxylase
Mutation
Alleles
Steroids
Genotype
Hormones
Genes
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health

Cite this

Witchel, S. F. ; Nayak, S. ; Suda-Hartman, M. ; Lee, Peter. / Newborn screening for 21-hydroxylase deficiency : Results of CYP21 molecular genetic analysis. In: Journal of Pediatrics. 1997 ; Vol. 131, No. 2. pp. 328-331.
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Newborn screening for 21-hydroxylase deficiency : Results of CYP21 molecular genetic analysis. / Witchel, S. F.; Nayak, S.; Suda-Hartman, M.; Lee, Peter.

In: Journal of Pediatrics, Vol. 131, No. 2, 01.01.1997, p. 328-331.

Research output: Contribution to journalArticle

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