DMRT1 and Turner syndrome: Chromosome 9pter aberrations, such as ring chromosome have been reported to cause 46,XY disorders of sex development (DSD), due to involvement of <i>DMRT1</i> gene located at the 9p24.3 region.<h4>Case presentation</h4>This study presents a unique case of a 12-year-old female with mos 46,XY, (r)9[31]/45,XY,-9[9] karyotype, presenting with intellectual disability and short stature, mimicking Turner syndrome.