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The importance of determining karyotype in premenarchal females with gonadal dysgerminoma: two case reports
  1. M. A. Steller*,
  2. J. T. Soper*,
  3. C. A. Szpak*,,
  4. J. T. Lanman* and
  5. D. L. Clark-Pearson*
  1. * Division of Gynecologic Oncology, Department of Obstetrics and Gynecology
  2. Department of Pathology, Duke University Medical Center, Durham, North Carolina, USA
  1. Address for correspondence: John T. Soper, Duke University Medical Center, Division of Gynecologic Oncology, Box 3079, Durham, North Carolina 27710, USA.


Gonadal dysgerminomas developed in two girls, aged 12 and 15 years. Both were initially treated with conservative unilateral gonadectomy. Forty-six, XY gonadal dysgenesis was not suspected in either patient due to the normal appearance of the contralateral gonads and internal female genital organs. One died of a second germ cell malignancy which developed in the contralateral ovary 9½ years later. The diagnosis of 46, XY gonadal dysgenesis was established by karyotype in both patients. Although conservative surgical management is desirable for nulliparous women with unilateral dysgerminomas, the presence of 46, XY gonadal dysgenesis should be suspected in all premenarchal girls with ovarian germ cell malignancies. If karyotyping reveals the presence of an Y chromosome, bilateral gonadectomy is indicated because of the risk that another neoplasm may develop in the contralateral ovary.

  • dysgerminoma
  • gonadoblastoma
  • gonadal gysgenesis
  • karyotype in germ cell tumors
  • ovarian germ cell tumors.

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