Case Report| Volume 32, ISSUE 5, P555-557, October 2019

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Dysgerminoma in a 10-Year Old with 45X/46XY Turner Syndrome Mosaicism



      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.


      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.

      Key Words

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        • Klein K.O.
        • Rosenfield R.L.
        • Santen R.J.
        • et al.
        Estrogen replacement in Turner syndrome: literature review and practical considerations.
        J Clin Endocrinol Metab. 2018; 103: 1790-1803
        • Mazzanti L.
        • Cicognani A.
        • Baldazzi L.
        • et al.
        Gonadoblastoma in Turner syndrome and Y-chromosome-derived material.
        Am J Med Genet A. 2005; 135: 150-154
        • Gravholt C.H.
        • Fedder J.
        • Naeraa R.W.
        • et al.
        Occurrence of gonadoblastoma in females with Turner syndrome and Y chromosome material: a population study.
        J Clin Endocrinol Metab. 2000; 85: 3199-3202
        • Matsumoto F.
        • Shimada K.
        • Ida S.
        Tumors of bilateral streak gonads in patients with disorders of sex development containing Y chromosome material.
        Clin Pediatr Endocrinol. 2014; 23: 93-97
        • Pyle L.C.
        • Nathanson K.L.
        A practical guide for evaluating gonadal germ cell tumor predisposition in differences of sex development.
        Am J Med Genet C Semin Med Genet. 2017; 175: 304-314
        • Coyle D.
        • Kutasy B.
        • Han Suyin K.
        • et al.
        Gonadoblastoma in patients with 45,X/46,XY mosaicism: a 16-year experience.
        J Pediatr Urol. 2016; 12: 283.e1-283.e7
        • Yuce O.
        • Doger E.
        • Celik N.
        • et al.
        Gonadoblastoma with dysgerminoma in a phenotypically Turner-like girl with 45,X/46,XY karyotype.
        J Clin Res Pediatr Endocrinol. 2015; 7: 336-339
        • Oktay K.
        • Bedoschi G.
        • Berkowitz K.
        • et al.
        Fertility preservation in women with Turner syndrome: a comprehensive review and practical guidelines.
        J Pediatr Adolesc Gynecol. 2016; 29: 409-416