Background: Patients with disorders of sex development (DSD) require multidisciplinary team management for etiology identification and gender assignment. Identification of mullerian structures is an important part of the evaluation process. Ultrasonography remains the first-line imaging modality to delineate mullerian structures; while the importance of magnetic resonance imaging (MRI) is insufficiently studied.
Objective and hypotheses: To evaluate the diagnostic accuracy of MRI in the assessment of internal genitalia in patients with DSD and at least one palpable gonad at diagnosis.
Method: Retrospective comparative single-center study (20082014) of DSD patients with at least one palpable gonad, who had benefited from pelvic MRI and surgical management. Clinical, biological and cytogenetic data were evaluated. A radiologist reviewed imaging blindly and pelvic MRI findings were compared to pelvic ultrasound and to cystoscopy whenever performed during surgery.
Results: Forty-six patients were included: 46,XY (n=41), 45,X/46,XY (n=3), 46,XX ovotestis (n=1) and 46,XX testicular DSD (n=1). Only one patient was reared as a female. Thirty patients (65.2%) were seen during the neonatal period (2±2.1 days), with severe hypospadias (95.6% of cases), and mean genital bud length of 20.1±5.8 mm. Urethroplasty was performed at a mean age of 15.1±4.1 months. Pelvic ultrasound was done in 41 patients (89.1%) and peroperatory cystoscopy in 13 patients (28.2%). Pelvic MRI was concordant with pelvic ultrasound outcomes in identifying retro-urethral cavity and retro-bladder cavity in 75.6 and 97.5% respectively. Eight patients had retro-urethral cavity seen on MRI but not on ultrasonography; in contrast its morphology was better described on ultrasonography in five patients. In only one patient, ultrasound showed a retro-bladder cavity which was not seen on MRI.
Conclusion: Pelvic MRI evaluation for internal genitalia appears complementary to ultrasonography in the neonatal period only for retro-urethral cavity. Thus, the cost effectiveness of this expensive technique in the evaluation of DSD patients should be reviewed to reduce costs on public health.
10 - 12 Sep 2016
European Society for Paediatric Endocrinology