Dysgerminoma in a 10-Year Old with 45X/46XY Turner Syndrome Mosaicism.
BACKGROUND: Turner syndrome is a genetic disorder resulting from the absence of or structural abnormality of one X chromosome. The presence of Y chromosome material in girls with Turner syndrome confers an increased risk of benign and malignant germ cell tumor and prophylactic bilateral gonadectomy is recommended.
CASE: A 10-year-old Turner mosaic syndrome (45X/46XY) patient underwent prophylactic gonadectomy after unremarkable preoperative pelvic imaging. Histopathology showed a streak right gonad, and left gonad with gonadoblastoma with limited degree of infiltrating germinoma.
SUMMARYAND CONCLUSION: Gonadoblastoma and dysgerminoma have been reported in girls with Turner mosaic who carry Y chromosome material. Prophylactic gonadectomy should be considered in these girls without delay.
Journal of pediatric and adolescent gynecology
Castration; Child; Dysgerminoma; Female; Gonadoblastoma; Humans; Ovarian Neoplasms; Turner Syndrome
Dysgerminoma; Gonadoblastoma; Mosaic; Turner syndrome
Dowlut-McElroy T, Vilchez DA, Taboada EM, Strickland JL. Dysgerminoma in a 10-Year Old with 45X/46XY Turner Syndrome Mosaicism. J Pediatr Adolesc Gynecol. 2019;32(5):555-557. doi:10.1016/j.jpag.2019.06.008