Nonclassical 21-Hydroxylase Deficiency Detected in Newborn Mass Screening Program for Congenital Adrenal Hyperplasia (CAH): Report of a Case

Abstract

We identified a patient with a nonclassical (NC) form of 21-hydroxylase deficiency (21-OHD). A 6-month-old boy was referred to the Shinshu University Hospital because of increased concentration of serum 17-OH progesterone (17-OHP). The high 17-OHP concentration was detected in mass screening program for CAH. He did not manifest any signs or symptoms of adrenal insufficiency or androgen excess at birth. Molecular analysis of the CYP21 gene revealed that he carried a compound heterozygote with the I172N mutation in one allele and the V281L mutation in the other allele. This suggests that the newborn mass screening can detect some NC 21-OHD cases in which both alleles contain only NC-associated mutations. He is the first patient with the NC phenotype which shares the same mutation as caucasian NC patients.