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

Final Pr. ID: Poster #: EDU-011

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

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

Keywords:  ambiguous genitalia, dsd, prenatal

Jana Manisha,  Jain Rupali,  Gupta Amit,  Kandasamy Devasenathipathy

Final Pr. ID: Poster #: EDU-023

Children with ambiguous genitalia form a major subset of children with Disorders of sexual differentiation (DSD). Genital ambiguity invariably results in significant parental anxiety and social issues. Management requires involvement of multiple medical specialties. Accurate delineation of anatomy on imaging is a very important step in clinical decision making. The imaging tools consist of conventional genitogram, pelvic ultrasound and magnetic resonance imaging (MRI). Drawback of MRI lies in the lengthy acquisition process; whereas conventional fluoroscopic genitogram is an invasive procedure, and bears the hazards of ionizing radiation. Pelvic ultrasound is good for visualization of the gonads, and internal genital organs. However, the details of lower genital tract anatomy can not be well evaluated in a pelvic ultrasound.
Trans-Perineal ultrasound (TPUS) is a technique where high resolution transducers are placed on the perineum of the child; and detailed imaging of the lower genital tract and anorectum can be performed. It has the advantages of easy availability and portability, lack of radiation exposure and avoidance of general anesthesia/ sedation.
This educational exhibit will describe normal male and female lower genital tract anatomy. Various anomalies, namely, urogenital sinus, hypospadias, hypertrophied clitoris, aphallia, will be described. Technique and pitfalls will also be discussed. Normal ossification of the pubic symphysis is variable, depending on the age of the child. Selection of suitable acoustic windows in subpubic and perineal positioning of transducers is crucial. Performed by trained radiologist, TPUS can be useful adjunct imaging modality, both useful and acceptable. Read More

Authors:  Jana Manisha , Jain Rupali , Gupta Amit , Kandasamy Devasenathipathy

Keywords:  DSD, Ultrasound