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Deletions and mutations in the 5-α-reductase type 2 ( SRD5A2 ) gene have been identified in 46,XY disorders of sexual differentiation (DSD). The clinical spectrum is heterogeneous, varying from a normal female external genital appearance to clitoromegaly and isolated micropenis or microphallus associated with hypospadias of various degrees. We describe a 46,XY DSD patient with a homozygous c.307C&gt;T (p.R103X) mutation in the  SRD5A2 gene. The case presented with a normal female external genital phenotype.

The earlier described mutation (c.307C>T [p.R103X]) in the SRD5A2 gene causing a 46,XY female phenotype