Abstract
5-alpha-Reductase deficiency is one of the causes involving disorders of sex development 46, XY. Mutations in SRD5A2 gene lead to a wide clinical manifestation, sometimes not giving a clear outlook for a clinical diagnosis, making molecular diagnosis an important diagnostic pillar of these conditions. Here, we show the importance of molecular and pedigree analysis for diagnosis and adequate genetic counseling. Keywords: 46, XY disorder of sex development; ambiguous genitalia; 5-alpha-Reducatse type 2; novel mutation.
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