Ovotesticular disorder of sex development in Korean children: a single-center analysis over a 30-year period.

Abstract Study objective To present clinical features that characterize ovotesticular disorder of sex development (OT-DSD) in the Korean population. Among the patient cohort who were initially suspected of OT-DSD, the actual OT-DSD patients and those of other DSD were compared. Design Retrospective medical chart review of patients who were initially suspected of OT-DSD from 1984 to 2018 based on clinical examination. Setting Tertiary care university hospital. Participants Of 26 patients with initial diagnosis of OT-DSD, 3 were excluded due to incomplete records, and finally, 23 patients were subjected to analysis. Various examinations were performed before the surgical confirmation of gonad histopathology. Interventions Medical records were reviewed for clinical, anatomical, biochemical and cytogenic characteristics, gender assignment, medical treatment, and histopathologic diagnosis. Main Outcome Measures Characteristics of OT-DSD in Korean population. Results Among 23 patients suspected of OT-DSD, 13 (56.5%) were diagnosed as OT-DSD after histopathologic confirmation. Of the remaining 10 patients, 5 (21.7%) were diagnosed with mixed gonadal dysgenesis, 3 with Turner variant, 1 with 46XX DSD, and 1 with Mayer–Rokitansky–Kuster–Hauser syndrome. Among the 13 OT-DSD cases, 9 patients presented with the 46XX karyotype, 1 with the 46XY, and 3 with the 46 XX/XY karyotype. Nine patients were assigned as male and four as female at birth. The most common gonad histology was ovotestis (38%), followed by ovary and testis. Conclusion OT-DSD is one of the rarest disorders with various clinical presentations. A patient with ambiguous genitalia must be examined in multidisciplinary approach with clinical suspicion for OT-DSD. Standardized procedure of evaluation and treatment is crucial.