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完全性雄激素不敏感综合征罕见病例

Rare Case of Complete Androgen Insensitivity Syndrome.

作者信息

Fava Spessoto Luís Cesar, Avelino Silveira Júlia Saraiva, Abularach Andres Menacho, Santana Garcia Gustavo, Almeida Matheus Castro, Gonzales Guilherme Cerqueira, Nagle Spessoto Ana Clara, Facio Fernando Nestor, Silva Faria Mateus Henrique

机构信息

Urology, Faculty of Medicine of São José do Rio Preto, São José do Rio Preto, BRA.

Medicine, Medical School of Catanduva, Catanduva, BRA.

出版信息

Cureus. 2024 Feb 20;16(2):e54550. doi: 10.7759/cureus.54550. eCollection 2024 Feb.

DOI:10.7759/cureus.54550
PMID:38516495
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10956715/
Abstract

Androgen insensitivity syndrome is a rare X-linked recessive condition in which patients present a female phenotype. After complete androgen insensitivity syndrome (CAIS) diagnosis, the timing of gonadectomy should be evaluated, considering the risks and benefits of this procedure. This paper reports an uncommon case of complete androgen insensitivity syndrome diagnosed belatedly in an adult patient. Surgical treatment was deemed necessary due to the elevated risk of gonadal malignancy.

摘要

雄激素不敏感综合征是一种罕见的X连锁隐性疾病，患者表现为女性表型。在诊断为完全性雄激素不敏感综合征（CAIS）后，应评估性腺切除术的时机，同时考虑该手术的风险和益处。本文报告了一例成年患者迟发性完全性雄激素不敏感综合征的罕见病例。由于性腺恶性肿瘤风险升高，认为有必要进行手术治疗。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b354/10956715/9c6226d6f0fc/cureus-0016-00000054550-i02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b354/10956715/78c97ba27bae/cureus-0016-00000054550-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b354/10956715/9c6226d6f0fc/cureus-0016-00000054550-i02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b354/10956715/78c97ba27bae/cureus-0016-00000054550-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b354/10956715/9c6226d6f0fc/cureus-0016-00000054550-i02.jpg

相似文献

1
Rare Case of Complete Androgen Insensitivity Syndrome.完全性雄激素不敏感综合征罕见病例
Cureus. 2024 Feb 20;16(2):e54550. doi: 10.7759/cureus.54550. eCollection 2024 Feb.
2
Frequency of gonadal tumours in complete androgen insensitivity syndrome (CAIS): A retrospective case-series analysis.完全性雄激素不敏感综合征（CAIS）中性腺肿瘤的发生率：一项回顾性病例系列分析。
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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。
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[Timing of gonadectomy in patients with complete androgen insensitivity syndrome].[完全性雄激素不敏感综合征患者性腺切除术的时机]
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本文引用的文献

1
Umbilical KeyPort bilateral laparoscopic orchiectomy in patient with complete androgen insensitivity syndrome.脐部双侧腹腔镜输精管切除术治疗完全雄激素不敏感综合征患者。
Int Braz J Urol. 2012 Sep-Oct;38(5):695-700. doi: 10.1590/s1677-55382012000500016.
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[Complete form of androgen insensitivity syndrome in Brazilian patients due to P766A mutation in the androgen receptor].
Arq Bras Endocrinol Metabol. 2005 Feb;49(1):98-102. doi: 10.1590/s0004-27302005000100013. Epub 2006 Mar 16.
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[Androgen insensitivity syndrome: clinical, hormonal and molecular analysis of 33 cases].[雄激素不敏感综合征：33例临床、激素及分子分析]
Arq Bras Endocrinol Metabol. 2005 Feb;49(1):87-97. doi: 10.1590/s0004-27302005000100012. Epub 2006 Mar 16.
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The incidence of complete androgen insensitivity in girls with inguinal hernias and assessment of screening by vaginal length measurement.腹股沟疝女童中完全性雄激素不敏感综合征的发病率及通过测量阴道长度进行筛查的评估
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Human androgen insensitivity due to point mutations encoding amino acid substitutions in the androgen receptor steroid-binding domain.由于雄激素受体类固醇结合域中编码氨基酸替代的点突变导致的人类雄激素不敏感。
Hum Mutat. 1995;6(2):152-62. doi: 10.1002/humu.1380060208.
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Male pseudohermaphroditism.男性假两性畸形
Semin Perinatol. 1992 Oct;16(5):319-31.