Silveri Massimiliano, Grossi Armando, Bassani Francesca, Orazi Cinzia, Camassei Francesca Diomedi, Zaccara Antonio
Department of Surgery, Bambino Gesù Children's Research Hospital, Rome, Italy.
Department of Pediatrics-Endocrinology, Bambino Gesù Children's Research Hospital, Rome, Italy.
Eur J Pediatr Surg. 2016 Jun;26(3):273-6. doi: 10.1055/s-0035-1551568. Epub 2015 May 15.
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.
性分化障碍患者的核型中Y染色体的存在与发生特定类型恶性肿瘤的风险增加显著相关，主要是II型生殖细胞肿瘤（GCTs）。性腺中无明显睾丸分化的性腺母细胞瘤和睾丸组织中未分类的管内生殖细胞瘤是大多数GCTs的前驱病变。性腺发育不全是乌尔里希-特纳综合征（UTS）的特征性表现，进一步增加了这种肿瘤风险。报道的UTS患者中Y染色体物质的发生率为6%至8%，在这些病例中，强烈建议早期性腺切除术以预防恶性肿瘤风险。这项工作的目的是回顾性分析我们接受性腺切除术的UTS患者的临床结局、组织病理学和细胞遗传学结果，以建立旨在促进保留器官手术的严格选择标准。
