Pure yolk-sac tumor with XO/XY Turner’s syndrome mosaicism

Authors

  • Víctor Figueroa Zevallos Servicio de Ginecología especializada, Hospital Nacional Edgardo Rebagliati Martins, EsSalud, Lima, Perú
  • Haydee Castro La Rosa Servicio de Ginecología especializada, Hospital Nacional Edgardo Rebagliati Martins, EsSalud, Lima, Perú
  • Esperanza Torres Arones Servicio de Ginecología especializada, Hospital Nacional Edgardo Rebagliati Martins, EsSalud, Lima, Perú

DOI:

https://doi.org/10.31403/rpgo.v59i68

Abstract

Turner’s syndrome is a genetic disorder caused by lack of an X chromosome. In some cases it is present with XY mosaicism, with increased risk of malignant gonadal tumors. It is important to determine the presence of the Y chromosome to perform prophylactic removal of the dysgenetic gonads. We present the case of a patient with Turner’s syndrome 45,X0/46,XY mosaicism associated to pure giant yolk sac tumor. This association of malignancy in a patient with mixed gonadal dysgenesia is extremely rare.

Keywords: Turner’s syndrome, mosaicism, gonadal dysgenesia gonadal, yolk sac tumor.

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References

Firth H, Hurst J. Turner syndrome 45 X and variants. Oxford desk reference. Clinical genetics. Cap 5. First Edition. NY: Oxford University Press. 2007:558-60.

Soraes H, Maia A, Campos M, Doria S, Lopes JM, Fontoura M. Clinicopathological features of 45,X/46,Xidic(Y) mosaicism and therapeutic implications: case report. Sao Paulo Med J. 2008;126(5):297-9.

Rocco RM, Do Nacimento IT, Nunes MV, Piñero L, Durado A, Bianco B. Y chromosome in Turner Syndrome: review of the literature. Sao Paulo Med J. 2009;127(6):373-8.

Sarria J, Spitale L. Endodermal sinus tumor. Eur J Gynaecol Oncol. 1986;7(1):36-9.

Kurman RJ, Norris HJ. Endodermal sinus tumor of the ovary: a clinical and pathology analysis of 71 cases. Cancer. 1976;38:2404-19.

Federman D. Primary amenorrhea. Adolescent Gynecology and Endocrinology Part I. Western J Med. 1979;131(5):411-6.

Ribeiro de Andrade J, Guerra-Junior G, Trevas Masiel- Guerra A. 46,XY and 45,X/46,XY testicular dysgenesis: similar gonadal and genital phenotype, different prognosis. Arq Bras Endocrinol Metab. 2010;54(3):331-4.

Gelincik I, Ozen S, Bayram I. Left ovarian gonadoblastoma with yolk sac tumor in a young woman. Indian J Pathol Microbiol. 2010;53:345-6

Nunez Lipay M, Bianco B, Verreschi I. Disgenesias Gonadais e Tumores: Aspectos genéticos e clínicos. Arq Bras Endocrinol Metab. 2005;49:60-70.

Ito K, Kawamata Y, Osada H, Ijichi M, Takano H, Sekiya S. Pure yolk sac tumor of the ovary with mosaic 45X/46X+mar Turner’s syndrome with a Y-chromosomal fragment. Arch Gynecol Obstet. 1998;262:87-90.

Gonzales P, Quesada M, Cabrera R, Bello D. Disgenesia gonadal mixta con formula cromosómica 45X/46X, (MAR). Presentación de una paciente. Rev Cubana Endocrinol. 2002;13(3):231-7

Caglayan B, Demiryilmaz F, Kendirci M, Ozyazgan I, Akalin H, Bittmann S. Mixed gonadal dysgenesis with 45, X/46, X, IDIC (Y) karyotype. Genetic Counseling. 2009;20(2):173-9.

Vidaurri H, Martínez A, Sadowinski S. Gonadoblastoma y disgenesia gonadal mixta. Bol Med Hosp Infant Mex. 1997;54(9):439-42.

Ono T, Sakai N, Hayashi Y, Saito M, Kawagoe S, Hiroi M. 45X0/46Xdic(Yq) mosaicism in Turner’s phenotype with endodermal sinus tumor od the ovary. Gynecol Obstet Invest. 1989;27(1):45-7.

Published

2014-01-20

How to Cite

Figueroa Zevallos, V., Castro La Rosa, H., & Torres Arones, E. (2014). Pure yolk-sac tumor with XO/XY Turner’s syndrome mosaicism. The Peruvian Journal of Gynecology and Obstetrics, 59(4), 295–299. https://doi.org/10.31403/rpgo.v59i68

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Section

Casos Clínicos