Ultrasound of ambiguous genitalia: Challenges and Pitfalls

Susan Watts, Allison Harris, Tom Watson, Radiology, Great Ormond Street Hospital for Children NHS Foundation Trust

An ultrasound scan is an essential imaging tool in the initial assessment of an infant or child presenting with ambiguous genitalia (Ahmed et al, 2016). Within this poster presentation the authors will explore the background to the many different and complex appearances arising from this condition. Case studies will illustrate the varied ultrasound findings encountered in the spectrum of disorders of sex development (DSD) with genetic correlation which is an essential component of the patient pathway for gender assignment (Trust protocols, 2018). Sometimes the appearances are confusing and may mean that a follow up scan or further imaging is needed, delaying diagnosis and decision making (Trust protocols, 2018). A multidisciplinary team approach is vital to ensure that the family understand the limitations of the ultrasound and that anatomical presence does not indicate normal function.


  1. Ahmed, S. F., Achermann, J. C., Wiebke, A., Balen, A., Conway, G., Edwards, Z., Elford, S., Hughes, I.A., Izatt, L., Krone, N., Miles, H., O’Toole, S., Perry, L. Sanders, C., Simmonds, M. and Willis, D. (2016)  ‘Society for Endocrinology UK guidance on the initial evaluation of an infant or an adolescent with a suspected disorder of sex development (Revised 2015)’,Clinical Endocrinology, 84, pp. 771-788.
  2. Trust Protocols, 2018.

View the Poster here