1996 Abstracts The American Pediatric Society and The Society for Pediatric Research

Pediatric Research (1996) 39, 95–95; doi:10.1203/00006450-199604001-00574

CONGENITAL ADRENAL HYPERPLASIA DUE TO 21-HYDROXYLASE (21-OHase) DEFICIENCY: PHENOTYPE/GENOTYPE CORRELATIONS IN NEWBORN SCREENING. 553

Sunil Nayak1, Selma F Witchel1, Eric P Hoffman1, Makiko Hartman1 and Peter A Lee1

1Department of Pediatrics, University of Pittsburgh, Children's Hospital of Pittsburgh, Pittsburgh, PA

One goal of 17-hydroxyprogesterone (17-OHP) neonatal screening (NS) is to prevent adrenal insufficiency through identification of infants with severe forms of 21-hydroxylase deficiency. The clinical presentations of 13 infants, ascertained by a voluntary NS program, are compared to the molecular genotype determined by ASOH and SSCP analyses. Four of 6 female infants assigned to male sex of rearing at birth were reassigned upon diagnosis of 21-OHase deficiency. Two additional boys presented with adrenal insufficiency prior to outcome of NS. Table


NS hastened diagnosis in 5 infants. No CYP21 mutations were detected in 4 male infants (1 term) with plasma 17-OHP levels of 553, 952, 1293, and 2550 ng/dl. Confirmatory plasma 17-OHP > 3500 ng/dl were associated with deleterious CYP21 mutations whereas known CYP21 mutations were not detected when 17-OHP <2600 ng/dl. Molecular genotype analysis excluded late onset 21-OHase deficiency in the 4 infants with slightly elevated plasma 17-OHP concentrations.