Background: Disorders of sexual development (DSD) resulting in ambiguous genitalia are a rare spectrum of anomalies that have the potential to be diagnosed prenatally using a combination of genetic testing and imaging. The incidence of prenatal detection is rising with the increased use of noninvasive prenatal testing, which can reveal discordance between genotype and phenotype. Sonographic and MR imaging contribute to prenatal assessment of disorders of DSD and may narrow the differential diagnosis and facilitate prenatal testing and postnatal evaluation. The goals of this exhibit are: 1. Review imaging features of normal prenatal male and female genitalia. 2. Review imaging patterns of ambiguous genitalia. 3. Discuss changes in appearance with various pathologies, providing imaging examples. 4. Review different categories of disorders of sexual differentiation and see how imaging may narrow the differential diagnosis. Read More

Meeting name: SPR 2019 Annual Meeting & Postgraduate Course , 2019

Authors: Cielma Tara, Blask Anna, Rubio Eva, Loomis Judyta, Menzel Meg, Bulas Dorothy

Keywords: ambiguous genitalia, dsd, prenatal