Ovotesticular disorders of sex development with dysgerminoma in a 46, XX/46, XY female: A case report

The diagnosis of ovotesticular disorders of sex development can only be confirmed when both testicular and ovarian tissues are present simultaneously in the same individual, regardless of the patient's karyotype. This report aims to discuss the diagnosis and treatment of a rare case of ovotesticular disorders of sex development complicated by dysgerminoma. The patient, a 24-year-old female, was admitted to hospital due to clitoral hypertrophy. Chromosomal analysis revealed a chimeric karyotype of 46, XX/46, XY. Biopsies of both ovaries indicated the presence of dysgerminoma in the right ovarian tissue. Postoperative pathology confirmed true hermaphroditism with dysgerminoma. Surgical intervention included the removal of the right ovary and plastic surgery of the external genitalia. Adult ovotesticular disorders of sex development combined with dysgerminoma is exceptionally rare, particularly with a chimeric karyotype. Comprehensive analysis of clinical manifestations, cytogenetic examination, histomorphology, and immunophenotype is crucial for accurate diagnosis and treatment. Early intervention and surgical management are essential to prevent disease progression.