Abstract:

46, XY pure gonadal dysgenesis (PGD) is a rare disorder of sex development. Patients have a female social gender and a 46,XY karyotype. The primitive streak gonads are prone to malignant germ cell tumors. This report describes a 16-year-old phenotypic female with 46, XY PGD who presented with lower abdominal pain. Imaging revealed a solid pelvic mass. Postoperative pathology confirmed stage ⅠC2 left ovarian dysgerminoma and bilateral ovarian gonadoblastomas. The clinical manifestations of this condition include primary amenorrhea and delayed puberty with poor development of secondary sexual characteristics, elevated gonadotropin (follicle-stimulating hormone, luteinizing hormone) levels, and decreased sex hormone (estradiol, testosterone, anti-Müllerian hormone) levels. The imaging features of gonadoblastoma are variable-sized masses containing multiple nodular calcifications. The imaging features of dysgerminoma are large masses exhibiting multiple fibrovascular septa and marked heterogeneous enhancement. Once a diagnosis of 46, XY PGD is established, prophylactic bilateral gonadectomy should be performed as early as possible, at least before the onset of puberty, to prevent the development of malignant gonadal germ cell tumors.

Key words: Gonadal dysgenesis, 46, XY, Gonadoblastoma, Dysgerminoma, Magnetic resonance imaging, Tomography, X-ray computed