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Non-Classical Congenital Adrenal Hyperplasia Phenotype in a Female Newborn Heterozygous for the 21-Hydroxylase Gene Mutation

We report a female newborn with mild virilization associated with a non-classical congenital adrenal hyperplasia (NC CAH) phenotype who was identified as heterozygous for a NC mutation, Val282Leu, after an exhaustive screening of the CYP21 gene. Compound heterozygous CYP21 gene mutations were found in her mother who had misdiagnosed mild clinical features of 21-OHD. The normal plasma hormone values in the child, after the gradual suspension of steroid therapy, confirmed that she did not have 21-OH deficiency but had been virilized by excess androgens in the mother, who was untreated for 21-OHD. These results emphasize the importance of the molecular study of the CYP21 gene in mild CAH phenotypes for correct diagnosis and treatment.