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The SRY gene is considered as the key player in the male sexual differentiation and developmental pathway. SRY gene mutations account for ~15% of 46,XY disorders of sexual development patients, and majority of them resides within the HMG domain of the protein. In this study, we report a novel missense mutation within the HMG domain of SRY gene, and an A-to-T transition causes E89V amino acid substitution in a 15-year-old female patient with 46,XY karyotype and complete gonadal dysgenesis.Moreover, three-dimensional analysis of protein-DNA complex showed that the replacement of highly hydrophilic glutamic acid residue with a hydrophobic residue like valine would have an impact on the structure of protein. In conclusion, we identified a novel SRY mutation in a 46,XY female patient with complete gonadal dysgenesis, and based on the protein modelling, we propose that the identified mutation could impair normal function of the SRY protein. K E Y W O R D Sgonadal dysgenesis, HMG domain, SRY

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