European Journal of Pediatrics

, Volume 155, Issue 8, pp 653–655 | Cite as

Prepubertal gonadoblastoma in a 46,XY female patient with features of Turner syndrome

  • A. Alikasifoğlu
  • N. Kandemir
  • M. Çağlar
  • E. Kotiloğlu
  • N. Yordam


46,XY gonadal dysgenesis was diagnosed in a 5.5-year-old phenotypically female patient who had physical and somatic stigmata of Turner syndrome such as webbed neck, low hairline, widely spaced nipples, cubitus valgus and coarctation of the aorta. Bilateral streak gonads were removed and an unsuspected gonadoblastoma was found in right gonad.

Key words

gonadal dysgenesis Gonadoblastoma 



sex determining region of Y


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  1. 1.
    Berkovitz GD, Fechner PY, Zacur HW, et al (1991) Clinical and pathologic spectrum of 46,XY gonadal dysgenesis: Its relevance to the understanding of sex differentiation. Medicine 70:375–383PubMedGoogle Scholar
  2. 2.
    Bernstein R, Jenkins T, Dawson B, et al (1980) Female phenotpye and multiple abnormalities in sibs with a Y chromosome and partial X chromosome duplication: H-Y antigen and Xg blood group findings. J Med Genet 17:291–293PubMedGoogle Scholar
  3. 3.
    Donahoe PK, Crawford JD, Henndren WH (1979) Mixed gonadal dysgenesis pathogenesis and management. J Pediatr Surg 14:287–289PubMedGoogle Scholar
  4. 4.
    Durnic M, Jukic S, Batinica S, et al (1993) Bilateral gonadoblastoma in a 9 month old infant with 46,XY gonadal dysgenesis. J Endocrinol Invest 16: 291–293PubMedGoogle Scholar
  5. 5.
    Frasier SD, Bashore RA, Mosier HD (1964) Gonadoblastoma associated with pure gonadal dysgenesis. J Pediatr 6:740–745Google Scholar
  6. 6.
    Isurugi K, Aso Y, Ishida H, et al (1977) Prepubertal XY gonadal dysgenesis. Pediatrics 59:569–573PubMedGoogle Scholar
  7. 7.
    Jager RJ, Anurel M, Hall K et al (1990) A human XY female with a frame shift mutation in the candidate testis determining gene SRY. Nature 348:452–454PubMedGoogle Scholar
  8. 8.
    Krasna H, Miller T, Donahoe PK, et al (1982) Dysgenesis of testicular and streak gonads in the syndrome of mixed gonadal dysgenesis. J Pediatr Surg 27:1376–1380Google Scholar
  9. 9.
    Lukusa T, Fryns JP, Van Den Berghe H (1986) Gonadoblastoma and Y chromosome fluorescence. Clin Genet 29: 311–316PubMedGoogle Scholar
  10. 10.
    MacMahon RA, Cussen LJ, Walters AW (1980) Importance of early diagnosis and gonadectomy in 46,XY females. J Pediatr Surg 15:642–645PubMedGoogle Scholar
  11. 11.
    Manuel M, Katayama KP, Jones HW (1976) The age of occurrence of gonadal tumors in intersex patients with a Y chromosome. Am J Obstet Gynecol 124:193–196PubMedGoogle Scholar
  12. 12.
    May KM, Grinzaid KA, Blackston RD (1991) Sex reversal and multiple abnormalities due to abnormal segregation of t(X:16) (p11.4; p13.3). Am J Hum Genet 49 [Suppl]:19AGoogle Scholar
  13. 13.
    Migeon CJ, Berkovitz GD, Brown TR (1994) Sexual differentiation and ambiguity. In: Kappy MS, Blizzard RM, Migeon CJ (eds) Wilkins the diagnosis and treatment of endocrine disorders in childhood and adolescence, 4th edn. Charles C Thomas, Springfield, pp 573–681Google Scholar
  14. 14.
    Olsen MM, Caldamone AA, Jackson CL, et al (1988) Gonadoblastoma in infancy: Indications for early gonadectomy in 46,XY gonadal dysgenesis. J Pediatr Surg 23:270–271PubMedGoogle Scholar
  15. 15.
    Page DC 1987) Hypothesis: a Y-chromosome gene causes gonadoblastoma in dysgenetic gonads. Development [Suppl] 101: 151–154PubMedGoogle Scholar
  16. 16.
    Robboy SJ, Miller T, Donahoe PK, et al (1982) Dysgenesis of testicular and streak gondas in the syndrome of mixed gonadal dysgenesis. Hum Pathol 13: 700–716PubMedGoogle Scholar
  17. 17.
    Shellas HF (1974) Malignant potential of the dysgenetic gonad. Obstet Gynecol 44: 298–309Google Scholar
  18. 18.
    Teter J (1960) A new concept of classification of gonadal tumors arising from germ cells and their histogenesis. Gynaecologia (Basel) 150: 84–92Google Scholar
  19. 19.
    Verp MS, Simpson JL (1987) Abnormal sexual differentiation and neoplasia. Cancer Genet Cytogenet 25: 191–218PubMedGoogle Scholar

Copyright information

© Springer-Verlag 1996

Authors and Affiliations

  • A. Alikasifoğlu
    • 1
  • N. Kandemir
    • 1
  • M. Çağlar
    • 1
  • E. Kotiloğlu
    • 1
  • N. Yordam
    • 1
  1. 1.Division of Paediatric EndocrinologyHacettepe UniversityAnkaraTurkey

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