DSD encompasses a wide range of conditions presenting in newborns or adolescents. The clinical features usually involve atypical genitalia in infancy or atypical pubertal development in adolescence. Those assigned female sex and later identified to have 46XY DSD pose extremely challenging and sensitive presentation to families and professionals. The assessment requires consideration of sexual identity issues among adolescents and potential for future adult sexual functioning and fertility. Radiological assessment (ultrasound and MRI) in the evaluation of these cases is paramount in providing information on the location and state of the gonads and Mullerian structures. We report a selection of cases demonstrating the role of imaging in children and adolescents with a female phenotype and assigned female sex at birth but later identified to have 46XY DSD. A 3 month old female presented with ambiguous genitalia and karyotyping confirmed 46XY. Ultrasound demonstrated left hydronephrosis and a bicornuate uterus with no ovarian or testicular tissue identified. MRI confirmed left hydronephrosis secondary to pelviureteric junction obstruction and a didelphys uterus with absence of ovarian and testicular tissue. Genetic tests confirmed MYRF-related cardiac urogenital syndrome and the parents opted to raise the child as female and with an early gonadectomy planned. A 14 year old girl presented with primary amenorrhoea and deepening voice. She was noted to have 5cm phallus-like structure, unfused labioscrotal folds and a single genital orifice. Karyotyping confirmed 46XY and ultrasound demonstrated no ovarian or uterine tissue. MRI revealed bilateral testes in the inguinal canals, seminal vesicles that connected with a vaginal cavity and a small penile shaft. Genetic tests confirmed 5α-reductase deficiency and a puberty blocker was offered to allow the patient to explore her gender identity. A 16 year old female presented with primary amenorrhoea, but had normal female external genitals and pubertal breast changes. Karyotyping confirmed 46XY and ultrasound demonstrated no ovarian, uterine or testicular tissue. Genetic tests confirmed complete androgen insensitivity and the patient opted to continue female identity and undergo gonadectomy in the future. These cases demonstrate the vital role of imaging modalities in the evaluation of DSD by providing significant and crucial information, which is paramount in the diagnosis and ongoing management for these patients. Read More

Meeting name: IPR 2026 Congress , 2026

Authors: Mistry Mikesh, Dickinson Fiona, Shenoy Savitha

Keywords: Paediatric Radiology, Genetics