A case of a 45,X/46,XY boy with gonadal dysgenesis is presented. The patient showed hypospadias and right undescended testis. He underwent underwent repair surgery for hypospadias, right orchidopexy, and bilateral testicular biopsy. Testicular biopsy revealed no malignant finding. He was followed-up annually by scrotum palpation. When the patient grew up to 24 years old, he was diagnosed to have right testicular tumor. High orchiectomy revealed pT1 seminoma. The management of undescended testis in men with gonadal dysgenesis and disordered sexual development is discussed.
Keywords: CT, computed tomography; DSD, disordered sexual development; Disordered sexual development; FSH, follicle-stimulating hormone; GCT, germ cell tumor; GD, gonadal dysgenesis; Gonadal dysgenesis; LH, luteinizing hormone; MRI, magnetic resonance imaging; Management; Orchiectomy; US, ultrasound.