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本文引用的文献

1
Deferring gonadectomy in patients with turner syndrome with a genetic Y component is not a safe practice.对于带有遗传 Y 成分的特纳综合征患者，推迟性腺切除术不是一种安全的做法。
J Pediatr Urol. 2023 Jun;19(3):294.e1-294.e5. doi: 10.1016/j.jpurol.2022.12.012. Epub 2023 Jan 11.
2
Differences in gonadal tissue cryopreservation practices for differences of sex development across regions in the United States.美国不同地区在性别发育差异方面的性腺组织冷冻保存实践的差异。
Front Endocrinol (Lausanne). 2023 Jan 17;13:990359. doi: 10.3389/fendo.2022.990359. eCollection 2022.
3
Turner Syndrome with Y Chromosome: Spontaneous Thelarche, Menarche, and Risk of Malignancy.伴有Y染色体的特纳综合征：自发性乳房发育、月经初潮及恶性肿瘤风险
J Pediatr Adolesc Gynecol. 2020 Feb;33(1):10-14. doi: 10.1016/j.jpag.2019.08.011. Epub 2019 Aug 26.
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.
5
Familial Turner syndrome with an X;Y translocation mosaicism: implications for genetic counseling.伴有X;Y易位嵌合体的家族性特纳综合征：对遗传咨询的意义
Eur J Med Genet. 2012 Nov;55(11):635-40. doi: 10.1016/j.ejmg.2012.07.001. Epub 2012 Jul 15.
6
Report of fertility in a woman with a predominantly 46,XY karyotype in a family with multiple disorders of sexual development.一个患有多种性发育障碍的家庭中，一名核型主要为46,XY的女性的生育情况报告。
J Clin Endocrinol Metab. 2008 Jan;93(1):182-9. doi: 10.1210/jc.2007-2155. Epub 2007 Nov 13.
7
Spontaneous pregnancies in a Turner syndrome woman with Y-chromosome mosaicism.一名患有Y染色体镶嵌现象的特纳综合征女性自然受孕。
J Assist Reprod Genet. 2004 Jun;21(6):229-30. doi: 10.1023/b:jarg.0000040239.40913.c3.

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.

DOI:10.1016/j.jpurol.2024.07.016
PMID:39089951
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11757796/
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。