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完全性雄激素不敏感综合征诊断20年后发生的巨大精原细胞瘤：病例报告

A large seminoma occurring 20 years after diagnosis of complete androgen insensitivity syndrome: A case report.

作者信息

Tsubamoto Hiroshi, Yada Yuri, Sakata Kazuko, Kondoh Nobuyuki, Sawai Hideaki

机构信息

Department of Obstetrics and Gynecology, Hyogo College of Medicine, Nishinomiya, Japan.

Departement of Urology, Kawanishi City Hospital, Kawanishi, Japan.

出版信息

Gynecol Oncol Case Rep. 2013 Mar 6;5:16-8. doi: 10.1016/j.gynor.2013.02.008. eCollection 2013.

DOI:10.1016/j.gynor.2013.02.008
PMID:24371685
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3862327/
Abstract

•A seminoma developed in a patient with androgen insensitivity syndrome.•The patient had a de novo androgen receptor mutation.•Proper management of AIS, including appropriate genetic counseling, is necessary.

摘要

•一名雄激素不敏感综合征患者发生了精原细胞瘤。

•该患者存在新发雄激素受体突变。

•对雄激素不敏感综合征进行恰当管理，包括进行适当的遗传咨询，是必要的。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/09f8/3862327/d2e47143569d/gr3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/09f8/3862327/96ee235772ee/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/09f8/3862327/8ec017040a8a/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/09f8/3862327/d2e47143569d/gr3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/09f8/3862327/96ee235772ee/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/09f8/3862327/8ec017040a8a/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/09f8/3862327/d2e47143569d/gr3.jpg

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本文引用的文献

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Timing of gonadectomy in adult women with complete androgen insensitivity syndrome (CAIS): patient preferences and clinical evidence.成年完全雄激素不敏感综合征（CAIS）女性行性腺切除术的时机：患者偏好和临床证据。
Clin Endocrinol (Oxf). 2012 Jun;76(6):894-8. doi: 10.1111/j.1365-2265.2012.04330.x.
2
Complete androgen insensitivity: the role of the surgeon.完全性雄激素不敏感综合征：外科医生的作用
J Urol. 2008 Oct;180(4 Suppl):1716-9. doi: 10.1016/j.juro.2008.03.110. Epub 2008 Aug 20.
3
Long-term followup and comparison between genotype and phenotype in 29 cases of complete androgen insensitivity syndrome.
29例完全性雄激素不敏感综合征患者的长期随访及基因型与表型比较
J Urol. 2008 Oct;180(4):1496-501. doi: 10.1016/j.juro.2008.06.045. Epub 2008 Aug 16.
4
Complete androgen insensitivity syndrome: the role of the endocrine surgeon.完全性雄激素不敏感综合征：内分泌外科医生的作用
Am Surg. 2005 Mar;71(3):241-3.
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The syndrome of testicular feminization in male pseudohermaphrodites.男性假两性畸形中的睾丸女性化综合征。
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The effect of neoadjuvant chemotherapy and surgery in children with malignant germ cell tumors of the genital region: a pediatric intergroup trial.新辅助化疗及手术对儿童生殖区域恶性生殖细胞肿瘤的影响：一项儿科多组间试验
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