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

1997; Elsevier BV; Volume: 131; Issue: 2 Linguagem: Inglês

10.1016/s0022-3476(97)70178-1

1097-6833

Selma F. Witchel, Sunil Nayak, Makiko Suda-Hartman, Peter A. Lee,

Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities

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. (J Pediatr 1997;131: 328-31)