Spectrum of gonadal morphology in disorders of sexual development: A case series

Introduction: Disorders of sexual development (DSD) comprise a group of congenital conditions, occurring in approximately 1 in 4,500 to 5,500 newborns. Materials and Methods: Over a 3-year period, seven cases presented with ambiguous genitalia, primary amenorrhea, and abdominal masses and were admitted to our hospital’s General Surgery and Gynaecology wards. Radiological, cytogenetics, and hormonal evaluation was done, followed by surgical excision and histopathological examination of the gonads. The study was conducted with proper written informed consent from parents and received approval from the Institutional Ethics Committee. Results: Out of four cases diagnosed with mixed gonadal dysgenesis (MGD), one had dysgerminoma, one had both dysgerminoma and gonadoblastoma, and another had bilateral gonadoblastoma. Three other cases were diagnosed as ovo-testicular DSD. We experienced varied presentations of dysgenetic gonads in DSD – ovotestis to streak gonad and dysgenetic testis. Conclusion: Early diagnosis and categorization of disorders of sex development (DSD) are crucial to prevent adverse outcomes and ensure optimal management.