Journal of Pediatric Urology
Volume 7, Issue 1 , Pages 72-75 , February 2011

46,XY pure gonadal dysgenesis: Clinical presentations and management of the tumor risk

  • Carmen Capito

      Affiliations

    • Department of pediatric surgery, Hopital Mère-Enfant, Nantes, France
    • ,
  • Marc-David Leclair

      Affiliations

    • Department of pediatric surgery, Hopital Mère-Enfant, Nantes, France
    • Department of pediatric oncology, Hopital Mère-Enfant, Nantes, France
    • Corresponding Author InformationCorresponding author. Service de Chirurgie Pédiatrique, Hôpital de la Mère et de l'Enfant, 7 quai Moncousu, 44093 Nantes, France. Tel.: +33 2 40083585; fax: +33 240083546.
    • ,
  • Alexis Arnaud

      Affiliations

    • Department of pediatric surgery, Hopital Mère-Enfant, Nantes, France
    • ,
  • Albert David

      Affiliations

    • Department of genetics, Hopital Mère-Enfant, Nantes, France
    • ,
  • Sabine Baron

      Affiliations

    • Department of pediatric endocrinology, Hopital Mère-Enfant, Nantes, France
    • ,
  • Nadège Corradini

      Affiliations

    • Department of pediatric oncology, Hopital Mère-Enfant, Nantes, France
    • ,
  • Yves Héloury

      Affiliations

    • Department of pediatric surgery, Hopital Mère-Enfant, Nantes, France
    • Department of Pediatric Surgery, Monash Medical Centre, Melbourne, Victoria, Australia

Received 15 June 2009 ,Accepted 18 January 2010.

References 

  1. Cools M, Drop SL, Wolffenbuttel KP, Oosterhuis JW, Looijenga LH. Germ cell tumors in the intersex gonad: old paths, new directions, moving frontiers. Endocr Rev. 2006;27:468–484
  2. Cools M, Boter M, van Gurp R, Stoop H, Poddighe P, Lau YF, et al. Impact of the Y-containing cell line on histological differentiation patterns in dysgenetic gonads. Clin Endocrinol (Oxf). 2007;67:184–192
  3. Looijenga LH, Hersmus R, Oosterhuis JW, Cools M, Drop SL, Wolffenbuttel KP. Tumor risk in disorders of sex development (DSD). Best Pract Res Clin Endocrinol Metab. 2007;21:480–495
  4. Hersmus R, de Leeuw BH, Wolffenbuttel KP, Drop SL, Oosterhuis JW, Cools M, et al. New insights into type II germ cell tumor pathogenesis based on studies of patients with various forms of disorders of sex development (DSD). Mol Cell Endocrinol. 2008;291:1–10
  5. Fallat ME, Donahoe PK. Intersex genetic anomalies with malignant potential. Curr Opin Pediatr. 2006;18:305–311
  6. Robboy SJ, Jaubert F. Neoplasms and pathology of sexual developmental disorders (intersex). Pathology. 2007;39:147–163
  7. Zielinska D, Zajaczek S, Rzepka-Gorska I. Tumors of dysgenetic gonads in Swyer syndrome. J Pediatr Surg. 2007;42:1721–1724
  8. Zalel Y, Piura B, Elchalal U, Czernobilsky B, Antebi S, Dgani R. Diagnosis and management of malignant germ cell ovarian tumors in young females. Int J Gynaecol Obstet. 1996;55:1–10
  9. Gueye A, Narducci F, Baranzelli MC, Collinet P, Farine O, Fournier C, et al. Malignant ovarian germ cell tumours: a trial of 36 cases. Gynecol Obstet Fertil. 2007;35:406–419
  10. Cost NG, Ludwig AT, Wilcox DT, Rakheja D, Steinberg SJ, Baker LA. A novel SOX9 mutation, 972delC, causes 46, XY sex-reversed campomelic dysplasia with nephrocalcinosis, urolithiasis, and dysgerminoma. J Pediatr Surg. 2009;44:451–454
  11. Palma I, Pena RY, Contreras A, Ceballos-Reyes G, Coyote N, Erana L, et al. Participation of OCT3/4 and beta-catenin during dysgenetic gonadal malignant transformation. Cancer Lett. 2008;263:204–211
  12. Rajpert-De Meyts E, Hoei-Hansen CE. From gonocytes to testicular cancer: the role of impaired gonadal development. Ann N Y Acad Sci. 2007;1120:168–180
  13. Slowikowska-Hilczer J, Romer TE, Kula K. Neoplastic potential of germ cells in relation to disturbances of gonadal organogenesis and changes in karyotype. J Androl. 2003;24:270–278
  14. Plante BJ, Fritz MA. A case report of successful pregnancy in a patient with pure 46, XY gonadal dysgenesis. Fertil Steril. 2008;90:2015;e1–2

PII: S1477-5131(10)00013-6

doi: 10.1016/j.jpurol.2010.01.010

Journal of Pediatric Urology
Volume 7, Issue 1 , Pages 72-75 , February 2011

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