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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
 

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