Objectives: To report a first case of 21-hydroxylase deficiency associated with a new genotype determined by V281+I172N/V281L mutations of the CYP21A2 gene.
Design And Methods: Direct genetic sequencing of CYP21A2 gene was performed.
Results: Both siblings had the same genotype, namely V281+I172N/V281L, while their parents resulted as V281L and V281+I172N carriers, respectively.
Conclusions: V281+I172N/V281L genotype should be included in the panel of mutations associated with the non-classical forms of 21-hydroxylase deficiency.
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| http://dx.doi.org/10.1016/j.clinbiochem.2007.09.002 | DOI Listing |
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