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46,XY性发育障碍合并卵巢恶性肿瘤——一例报告

Ovarian malignancy in an individual with 46,XY ovotesticular disorder of sexual development - A case report.

作者信息

Griggers James I, Higgins Robert, Terris Martha K

机构信息

Medical College of Georgia, Augusta University, GA, USA.

Department of Obstetrics and Gynecology, Medical College of Georgia, Augusta University, Augusta, GA, USA.

出版信息

Urol Case Rep. 2024 Feb 14;53:102680. doi: 10.1016/j.eucr.2024.102680. eCollection 2024 Mar.

DOI:10.1016/j.eucr.2024.102680
PMID:38404682
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10885541/
Abstract

Disorders of sexual development (DSD) are diseases resulting from aberrations in sex chromosomes, gonadal, and internal/external genitalia development resulting in various phenotypes. Ovotesticular DSD represents a rarer entity in this classification of disorders characterized by simultaneous presence of testicular and ovarian tissue. Gonadal tumors in those with DSDs is a known risk, although ovarian masses discovered in adults with ovotesticular DSD is a rare entity and there is little literature pertaining to this population. We present a case of an incidental adnexal mass discovered in an elderly patient ultimately elucidated as a malignant ovarian mass.

摘要

性发育障碍(DSD)是由性染色体、性腺以及内/外生殖器发育异常导致的各种表型疾病。卵睾性DSD在这类疾病分类中较为罕见,其特征是同时存在睾丸和卵巢组织。已知患有DSD的个体有发生性腺肿瘤的风险,尽管在成年卵睾性DSD患者中发现卵巢肿物较为罕见,且关于这一人群的文献很少。我们报告一例老年患者偶然发现附件肿物,最终确诊为恶性卵巢肿物。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ea8c/10885541/fc08b8eb8789/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ea8c/10885541/b9faf8a92148/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ea8c/10885541/fc08b8eb8789/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ea8c/10885541/b9faf8a92148/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ea8c/10885541/fc08b8eb8789/gr2.jpg

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本文引用的文献

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46, XY disorder of sex development (DSD) complicated by a serous borderline tumor of the ovary: a case report and review of the literature.46,XY 性发育障碍(DSD)合并卵巢交界性浆液性肿瘤:病例报告及文献复习。
Diagn Pathol. 2020 Jul 23;15(1):93. doi: 10.1186/s13000-020-01010-1.
2
Ovotesticular Disorder of Sex Development: An Unusual Presentation.卵睾性发育障碍:一种不寻常的表现。
J Clin Imaging Sci. 2019 Jul 12;9:34. doi: 10.25259/JCIS_45_2019. eCollection 2019.
3
Disorders of sex development.性发育障碍。
Best Pract Res Clin Obstet Gynaecol. 2018 Apr;48:90-102. doi: 10.1016/j.bpobgyn.2017.11.005. Epub 2017 Nov 22.
4
Disorders of sexual differentiation: I. Genetics and pathology.性分化障碍:I. 遗传学与病理学
Arab J Urol. 2013 Mar;11(1):19-26. doi: 10.1016/j.aju.2012.11.005. Epub 2013 Jan 10.
5
Tumor risk in disorders of sex development (DSD).性发育障碍(DSD)中的肿瘤风险。
Best Pract Res Clin Endocrinol Metab. 2007 Sep;21(3):480-95. doi: 10.1016/j.beem.2007.05.001.