Gonadal Tumors in Patients with Differences in Sex Development - A Multi-Site Study from the Pediatric Urologic Oncology Working Group of the Societies for Pediatric Urology
Leslie Peard, MD1, Jacqueline Morin, MD1, Viktor Flores, MD2, Kyle Graham, MPH2, Abby S. Taylor, MD, MPH2, John C. Pope, IV, MD2, Valeska Halstead, MD, MPH3, Nicholas G. Cost, MD3, Evan M. Roberts, MBA4, John Makari, MD4, Amanda F. Saltzman, MD1.
1University of Kentucky, Lexington, KY, USA, 2Vanderbilt University Medical Center, Nashville, TN, USA, 3University of Colorado, Denver, CO, USA, 4University of Nebraska, Omaha, NE, USA.
BACKGROUND: Disturbances in gonadal development lead to an increased risk of gonadal malignancy in some but not all patients with differences in sex development (DSD). Knowledge of the exact risk of malignancy in specific DSD conditions is clinically important, but current data are insufficient. The most ideal management would be to identify which patients need gonadectomy and when, allowing low risk patients' gonads to be retained to preserve gonadal function (hormonal and reproductive). The objective of this study was to describe a contemporary incidence of germ cell neoplasia in situ (GCNIS; including gonadoblastoma) and germ cell tumor (GCT) in patients with DSD who undergo gonadal surgery and to provide long-term oncologic outcomes for these patients.
METHODS: Patients with a DSD diagnosis who underwent gonadal surgery (gonadectomy or gonadal biopsy) at any time were identified at four institutions. Clinical characteristics, pathology, and treatment details were obtained retrospectively. Patients were stratified into risk categories based on DSD diagnosis. Rate of having GCNIS/GCT was recorded. Oncologic treatment and outcomes were recorded. Descriptive statistics are reported using parametric methods.
RESULTS: 83 patients were identified, with median age of 3y (0.03y-40y). Distribution of diagnosis is summarized in Table 1. Most patients underwent gonadectomy (83%) and 8/83 (9.6%) patients had GCNIS or GCT. Median age of patients with GCNIS or GCT was 14y (0.25y-17.6y). 5 patients had bilateral GCNIS, 2 had unilateral GCNIS and 1 had GCT. 7/8 patients had high or intermediate risk DSD diagnoses (4 mixed gonadal dysgenesis, 3 Turner with Y). One patient with GCNIS had low risk DSD diagnosis (ovotesticular DSD). 3/8 patients had follow-up imaging available (2 CT, 1 MRI). No patient received adjuvant chemotherapy or radiation, no patient had recurrence and all patients were living at the conclusion of the study. Mean follow time was 6.4y.
CONCLUSIONS:
In a contemporary cohort of patients with DSD undergoing gonadal surgery, the majority of patients do not have GCNIS or GCT on final pathology. 87.5% of patients with malignant or premalignant pathology had a high or intermediate risk DSD diagnoses. 
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