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

Case: We present the case of a 3 year old male patient who presented to ED with right sided weakness and facial drooling post fall with head injury. On examination, there was residual right sided weakness with poor eye contact and communicative difficulties. Urgent CT Head revealed a focal, well defined hypo-attenuation in the left basal ganglia (Figure 1). Subsequent MRI Head and Angiogram demonstrated an anomalous origin of the left middle cerebral artery (MCA) and lenticulostriate arteries on Time of Flight (TOF) angiographic images. The left internal cerebral artery (ICA) gives off the left posterior communicating artery which loops back on it giving off a very small MCA and forming a large, odd looking A1 anterior cerebral artery (ACA) (Figure 2). The left lenticulostriate arteries arise on the horizontal segment of the loop which forms the A1 ACA (Figure 2). The left perforator territory demonstrates high T2/FLAIR signal with diffusion restriction involving the left putamen and upper aspect of the left caudate nucleus as seen on CT (Figure 3). The patient was initiated on antiplatelet therapy with aspirin. He subsequently represented two months later with transient left sided weakness. Neurological examination was grossly normal apart from a slow gate. Repeat MRI demonstrated reduction in the extent of the previous T2 signal abnormality within the left putamen consistent with expected evolution of previous infarct (Figure 4). Dual antiplatelet therapy with the addition of clopidogrel was initiated. Subsequent clinical follow up found improvement in his verbal ability and eye contact. Discussion: There are numerous reported anatomical variants involving the MCA, such as a duplicated, accessory and fenestration, which are related to the embryological development of the MCA (1-3). Recently, twig-like MCA’s have been reported which are likely thought to be a secondary consequence to developmental stenosis of the proximal MCA (4). There are currently no case reports describing the anomalous distal ICA, ACA and MCA findings such as those in our case report. We hypothesise that the patient clinical symptoms are likely due to the anomalous origin and tortuosity of the lenticulostriate arteries resulting in hypoperfusion and ischaemia (5). Clinical improvement was demonstrated after initiating antiplatelet therapy. Moreover, interestingly despite the small calibre MCA there was no evidence of ischaemia within this territory. Read More

Meeting name: SPR 2025 Annual Meeting , 2025

Authors: Mirza Eushaa, Aziz Sumaiya, Ajilogba Kaseem, Delf Jonathan, Dickinson Fiona, Samanta Rajib, Patel Ushma, Swienton David, Sharaf Ahmed

Keywords: Pediatric Neuroradiology, Pediatric Stroke