First case of V281+I172N/V281L CYP21A2 genotype associated with congenital adrenal hyperplasia form. A case report from South Italy

To report a first case of 21-hydroxylase deficiency associated with a new genotype determined by V281+I172N/V281L mutations of the CYP21A2 gene. Direct genetic sequencing of CYP21A2 gene was performed. Both siblings had the same genotype, namely V281+I172N/V281L, while their parents resulted as V281L and V281+I172N carriers, respectively. V281+I172N/V281L genotype should be included in the panel of mutations associated with the non-classical forms of 21-hydroxylase deficiency.