性发育的卵巢带性障碍:诊断,治疗和进化方面
Ndèye Aby Ndoye1, Lissoune Cissé2, Chérif Mouhamed Moustapha Dial3
1Department of Pediatric Surgery, Albert Royer National Children's Hospital Center, Dakar, Senegal; Cheikh Anta Diop University, Dakar, Senegal.
Journal of pediatric surgery
|February 1, 2025
概括
儿童性发育的卵巢骨性障碍 (OT-DSDs) 经常出现46,XX型和模两可的生殖器. 早期诊断和管理,包括部分淋巴切除术,对于这些罕见疾病的最佳结果至关重要.
科学领域:
- 儿科手术 儿科手术
- 内分泌学 在内分泌学.
- 遗传学 是一个遗传学.
背景情况:
- 性发育障碍 (DSD) 涵盖了一系列具有不同病因的疾病.
- 卵巢-丸DSD (OT-DSD) 的特点是存在卵巢和丸组织.
研究的目的:
- 在儿科群体中划分性发育卵巢性疾病 (OT-DSDs) 的诊断,治疗和临床结果.
- 分析OT-DSD儿童的表现,遗传发现和手术管理.
主要方法:
- 进行了一项回顾性,描述性研究.
- 分析了16名在2019年1月至2023年12月期间被诊断患有OT-DSD的儿科患者.
- 数据包括分配的性别,遗传性,临床表现,成像,治疗和发病率.
主要成果:
- 大多数患者 (62%) 在出生时被分配为女性,在所有病例中都观察到46,XX型.
- 56%的患者存在模两可的生殖器;单侧卵巢骨性DSD是最常见的诊断 (63%).
- 手术干预包括部分淋巴切除术 (56%) 和生殖器官整形 (78%的女性化手术),术后发病率低 (11%的阴道狭窄).
结论:
- 在这个队列中,卵丸DSD经常与46,XX型相关,并且可以被晚期诊断出来.
- 涉及卵巢和卵巢的单边卵巢支柱DSD是主要的形式.
- 部分淋巴切除术是一种可行的手术选择,即使没有立即的手术内组织学确认.
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