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

34 Scopus citations

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

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health

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