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Eur J Pediatr Surg 2016; 26(03): 273-276
DOI: 10.1055/s-0035-1551568
Original Article
Georg Thieme Verlag KG Stuttgart · New York

Ullrich–Turner Syndrome and Tumor Risk: Is There Another Chance to Early Gonadectomy in Positive TSPY and SRY Patients?

Massimiliano Silveri
1   Department of Surgery, Bambino Gesù Children's Research Hospital, Rome, Italy
,
Armando Grossi
2   Department of Pediatrics–Endocrinology, Bambino Gesù Children's Research Hospital, Rome, Italy
,
Francesca Bassani
1   Department of Surgery, Bambino Gesù Children's Research Hospital, Rome, Italy
,
Cinzia Orazi
3   Department of Imaging and Radiodiagnostics, Bambino Gesù Children's Research Hospital, Rome, Italy
,
Francesca Diomedi Camassei
4   Department of Pathology, Bambino Gesù Children's Research Hospital, Rome, Italy
,
Antonio Zaccara
5   Department of Urology and Nephrology, Bambino Gesù Children's Research Hospital, Rome, Italy
› Author Affiliations
Further Information

Publication History

26 December 2014

15 March 2015

Publication Date:
15 May 2015 (online)

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Abstract

The presence of the Y chromosome in the karyotype of patients with disorders of sex differentiation is significantly associated with an increased risk to develop specific types of malignancies, predominantly type II germ cell tumors (GCTs). Gonadoblastoma in the gonads without an obvious testicular differentiation and intratubular germ cell neoplasia of unclassified type in testicular tissue are the precursor lesions of most GCTs. Gonadal dysgenesis, the characteristic feature of Ullrich–Turner syndrome (UTS), further contributes to increase this tumor risk. The reported incidence of Y chromosome material in UTS is 6 to 8% and in these cases an early gonadectomy is strongly recommended to prevent the risk of a malignancy. The aim of this work was to retrospectively analyze the clinical outcome and the histopathological and cytogenetic findings of our UTS patients who underwent gonadectomy to establish strict selection criteria aimed at promoting an organ-sparing surgery.

Keywords

Ullrich–Turner syndrome - gonadal stromal tumors - gonadoblastoma - mosaicism - gonadectomy
 

  • References

  • 1 Oosterhuis JW, Looijenga LH. Testicular germ-cell tumours in a broader perspective. Nat Rev Cancer 2005; 5 (3) 210-222
    CrossrefPubMedSearch in Google Scholar
  • 2 Looijenga LHJ, Hersmus R, de Leeuw BHCGM , et al. Gonadal tumours and DSD. Best Pract Res Clin Endocrinol Metab 2010; 24 (2) 291-310
    CrossrefPubMedSearch in Google Scholar
  • 3 Horn LC, Limbach A, Hoepffner W , et al. Histologic analysis of gonadal tissue in patients with Ullrich-Turner syndrome and derivative Y chromosomes. Pediatr Dev Pathol 2005; 8 (2) 197-203
    CrossrefPubMedSearch in Google Scholar
  • 4 Verp MS, Simpson JL. Abnormal sexual differentiation and neoplasia. Cancer Genet Cytogenet 1987; 25 (2) 191-218
    CrossrefPubMedSearch in Google Scholar
  • 5 Schoemaker MJ, Swerdlow AJ, Higgins CD, Wright AF, Jacobs PA ; UK Clinical Cytogenetics Group. Cancer incidence in women with Turner syndrome in Great Britain: a national cohort study. Lancet Oncol 2008; 9 (3) 239-246
    CrossrefPubMedSearch in Google Scholar
  • 6 Wertelecki W, Fraumeni Jr JF, Mulvihill JJ. Nongonadal neoplasia in Turner's syndrome. Cancer 1970; 26 (2) 485-488
    CrossrefPubMedSearch in Google Scholar
  • 7 Satgé D, Moore SW, Stiller CA , et al. Abnormal constitutional karyotypes in patients with neuroblastoma: a report of four new cases and review of 47 others in the literature. Cancer Genet Cytogenet 2003; 147 (2) 89-98
    CrossrefPubMedSearch in Google Scholar
  • 8 Lippe B. Turner syndrome. Endocrinol Metab Clin North Am 1991; 20 (1) 121-152
    CrossrefPubMedSearch in Google Scholar
  • 9 Bianco B, Lipay M, Guedes A, Oliveira K, Verreschi IT. SRY gene increases the risk of developing gonadoblastoma and/or nontumoral gonadal lesions in Turner syndrome. Int J Gynecol Pathol 2009; 28 (2) 197-202
    CrossrefPubMedSearch in Google Scholar
  • 10 Dumić M, Jukić S, Batinica S, Ille J, Filipović-Grcić B. Bilateral gonadoblastoma in a 9-month-old infant with 46,XY gonadal dysgenesis. J Endocrinol Invest 1993; 16 (4) 291-293
    CrossrefPubMedSearch in Google Scholar
  • 11 Gravholt CH, Fedder J, Naeraa RW, Müller J. Occurrence of gonadoblastoma in females with Turner syndrome and Y chromosome material: a population study. J Clin Endocrinol Metab 2000; 85 (9) 3199-3202
    CrossrefPubMedSearch in Google Scholar
  • 12 Brant WO, Rajimwale A, Lovell MA , et al. Gonadoblastoma and Turner syndrome. J Urol 2006; 175 (5) 1858-1860
    CrossrefPubMedSearch in Google Scholar
  • 13 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 (3) 93-97
    CrossrefPubMedSearch in Google Scholar
  • 14 Uehara S, Hashiyada M, Sato K, Nata M, Funato T, Okamura K. Complete XY gonadal dysgenesis and aspects of the SRYgenotype and gonadal tumor formation. J Hum Genet 2002; 47 (6) 279-284
    CrossrefPubMedSearch in Google Scholar
  • 15 Williams SD. Ovarian germ cell tumors: an update. Semin Oncol 1998; 25 (3) 407-413
    PubMedSearch in Google Scholar
  • 16 Hughes IA, Houk C, Ahmed SF, Lee PA ; LWPES Consensus Group; ESPE Consensus Group. Consensus statement on management of intersex disorders. Arch Dis Child 2006; 91 (7) 554-563
    PubMedSearch in Google Scholar