O4358: What Is an Image Worth? The Role of Imaging in Gonadal Surveillance in Individuals With Differences of Sex Development

Background: Prophylactic gonadectomy was historically recommended for individuals with differences of sex development (DSD) due to malignancy risk. Evolving understanding now supports individualized management based on risk stratification and shared decision-making. As more gonads are retained, the role of imaging in surveillance remains unclear. This study aims to evaluate the impact of gonadal imaging on management decisions and its correlation with pathology in a single-institution, multi-disciplinary DSD clinic. The study objectives were to identify changes in clinical management prompted by imaging and to identify the correlation of imaging findings with surgical pathology.

Methods: We identified individuals seen in our DSD clinic over a 26-year period who had at least one gonad, a diagnosis associated with increased malignancy risk, and who underwent at least one subsequent imaging test with follow-up. Retrospective chart review captured demographics, imaging type/frequency, and management after imaging. Primary outcome was change in clinical management prompted by imaging, and secondary outcome was correlation of imaging findings with pathology (when available).

Results: Fifty patients with diverse DSD diagnoses were included. Median age at diagnosis was 0 (Quartiles 0,12). Eleven patients had a history of gonadal biopsy or gonadectomy at time of presentation. Gonads were primarily imaged by ultrasound (96%). Patients were followed for a median of 42 months with a median of 2 images obtained per patient. Forty percent of patients had non-visualization of gonads on surveillance imaging. Imaging findings prompted management changes in 5 (10%) patients (3 gonadectomy/biopsy, 2 increase in imaging frequency). Half (n=25) of the overall cohort underwent gonadectomy/biopsy with premalignant/malignant pathology identified in 3 (6%) cases. However, imaging findings correlated with pathology in only one case, where symptoms preceded imaging (Table 1).

Conclusion: Gonadal imaging in DSD has limited utility, with findings rarely leading to changes in clinical management. Pathology did not correlate with imaging in asymptomatic patients, highlighting the need for alternative biomarkers and larger studies to refine gonadal surveillance strategies.