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21-Hydroxylase deficiency (21-OHD) is the target disease of newborn screening for congenital adrenal hyperplasia (CAH). We describe the additional detection of patients suffering from 11β-hydroxylase deficiency (11-OHD) by second-tier testing.

Neonatal Screening: Identification of Children with 11β-Hydroxylase Deficiency by Second-Tier Testing