Steroid 5-alpha-reductase 2 deficiency is an autosomal recessive disorder with 
clinical spectrum ranges from a male phenotype with hypospadia to a female 
phenotype with normal wolffian structures. Over 50 different mutations of SRD5A2 
gene has been described in affected patients and several mutations were detected 
in specific populations. DNAs of two 46,XY DSD Indonesian siblings, aged 13 and 
18 years old, with clinically suspected of 5-alpha-reductase deficiency and 
their mother were analysed for molecular defects of SRD5A2 gene. Different from 
other reports, in our series three mutations were found in each patient. Two 
novel mutations were detected in these patients and their mother, which are 
p.Gly34fs and c.699-1G>T. The other mutation detected was c.680G>A or 
p.Arg227Gln, which commonly described in Far East Asian population. Whether the 
p.Arg227Gln mutation is considered a polymorphism or a mutation in Indonesian 
population warrants further study.