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完全性雄激素不敏感综合征或睾丸女性化:基于一例病例报告的文献综述

Complete androgen insensitivity syndrome or testicular feminization: review of literature based on a case report.

作者信息

Souhail Regragui, Amine Slaoui, Nadia Abounouh, Tarik Karmouni, Khalid El Khader, Abdellatif Koutani, Ahmed Ibn Attya

机构信息

Department of Urology B, Ibn Sina University Hospital, Rabat, Morocco.

Department of Gynecology Obstetrics, Maternity ibn Sina, Rabat, Morocco.

出版信息

Pan Afr Med J. 2016 Nov 28;25:199. doi: 10.11604/pamj.2016.25.199.10758. eCollection 2016.

DOI:10.11604/pamj.2016.25.199.10758
PMID:28270903
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5326263/
Abstract

Testicular feminization, or the androgen insensitivity syndrome, is a rare disease. Because of various abnormalities of the X chromosome, a male, genetically XY, has some physical characteristics of a woman or a full female phenotype. Indeed the androgen insensitivity syndrome occurs because of a resistance to the actions of the androgen hormones, which in turn switches the development towards the aspect of a woman. We report a case of complete androgen insensitivity syndrome in a 30 years old woman who presented primary amenorrhea. We aim to improve our knowledge of this illness from the data that provides us this study, and a review of the literature.

摘要

睾丸女性化,即雄激素不敏感综合征,是一种罕见疾病。由于X染色体存在各种异常,一名基因上为XY的男性具有一些女性的身体特征或完全女性化的表型。事实上,雄激素不敏感综合征的发生是由于对雄激素作用产生抵抗,这进而使发育转向女性化方向。我们报告一例30岁原发性闭经女性的完全性雄激素不敏感综合征病例。我们旨在通过本研究提供的数据及文献综述来增进对该疾病的了解。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c31e/5326263/1a554eefdb11/PAMJ-25-199-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c31e/5326263/4a746181b1b3/PAMJ-25-199-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c31e/5326263/8341829ae3bc/PAMJ-25-199-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c31e/5326263/c1e76ab95736/PAMJ-25-199-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c31e/5326263/1a554eefdb11/PAMJ-25-199-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c31e/5326263/4a746181b1b3/PAMJ-25-199-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c31e/5326263/8341829ae3bc/PAMJ-25-199-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c31e/5326263/c1e76ab95736/PAMJ-25-199-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c31e/5326263/1a554eefdb11/PAMJ-25-199-g005.jpg

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本文引用的文献

1
Incidental detection of Sertoli-Leydig cell tumor by FDG PET/CT imaging in a patient with androgen insensitivity syndrome.患者患有雄激素不敏感综合征,FDG PET/CT 成像偶然发现支持-间质细胞瘤。
Ann Nucl Med. 2010 Jan;24(1):35-9. doi: 10.1007/s12149-009-0321-x. Epub 2009 Dec 4.
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Male infertility and the involvement of the X chromosome.男性不育与 X 染色体的关系。
Hum Reprod Update. 2009 Nov-Dec;15(6):623-37. doi: 10.1093/humupd/dmp023. Epub 2009 Jun 10.
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Androgen insensitivity syndrome: clinical features and molecular defects.
雄激素不敏感综合征:临床特征与分子缺陷
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Androgen resistance.雄激素抵抗
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Molecular pathology of the androgen receptor in male (in)fertility.雄激素受体在男性生育(不)育中的分子病理学
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