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特纳综合征合并Y染色体物质患者性腺组织的组织学分析。

Histologic analysis of gonadal tissue in patients with Turner syndrome and Y chromosome material.

作者信息

Bhuiyan Julia, Kavarthapu Raghuveer, Soliman Mary, Brown G Thomas, Yano Jacqueline C, Dowlut-McElroy Tazim, Gomez-Lobo Veronica

机构信息

Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, MD, USA.

Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, MD, USA.

出版信息

J Pediatr Urol. 2025 Feb;21(1):217-220. doi: 10.1016/j.jpurol.2024.07.016. Epub 2024 Jul 24.

Abstract

This study investigates gonadal histology in individuals with Turner syndrome assigned female at birth and Y-chromosome material (TS+Y) who underwent prophylactic gonadectomy. Despite case reports suggesting spontaneous menarche and pregnancies in TS+Y, this research reveals the absence of germ cells, indicating low fertility likelihood. Germ cell neoplasia in-situ was present in some patients, emphasizing a non-negligible risk of cancer precursor. As no malignancies were found even in older individuals, the study challenges the immediate need for prophylactic gonadectomy upon TS+Y diagnosis. Limited fertility benefits are suggested, emphasizing the need for further research on optimal timing and criteria for the procedure.

摘要

本研究调查了出生时被指定为女性且带有Y染色体物质(TS+Y)并接受预防性性腺切除术的特纳综合征患者的性腺组织学。尽管有病例报告表明TS+Y患者有自然月经初潮和怀孕情况,但本研究发现其不存在生殖细胞,这表明生育可能性较低。一些患者存在原位生殖细胞肿瘤,这凸显了癌症前驱病变的风险不可忽视。由于即使在年龄较大的个体中也未发现恶性肿瘤,该研究对TS+Y诊断后立即进行预防性性腺切除术的迫切性提出了质疑。研究表明生育益处有限,强调需要进一步研究该手术的最佳时机和标准。

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Gonadoblastoma in patients with Ullrich-Turner syndrome.患有乌尔里希-特纳综合征患者的性腺母细胞瘤。
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本文引用的文献

4
The patient with Turner syndrome: puberty and medical management concerns.特纳综合征患者:青春期和医学管理关注点。
Fertil Steril. 2012 Oct;98(4):780-6. doi: 10.1016/j.fertnstert.2012.07.1104. Epub 2012 Aug 9.

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