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完全雄激素不敏感综合征:一例病例报告并文献复习。

Complete androgen insensitivity syndrome: a case report and literature review.

机构信息

Department of Gynaecology, SSL Central Hospital of Dongguan City, Dongguan, Guangdong Province, China.

出版信息

J Int Med Res. 2023 Feb;51(2):3000605231154413. doi: 10.1177/03000605231154413.

Abstract

Complete androgen insensitivity syndrome (CAIS) is a rare disease that can be easily misdiagnosed. Before puberty, this condition is easily misdiagnosed as an inguinal hernia. This case report describes a 31-year-old phenotypically female patient with CAIS who was misdiagnosed twice previously with an inguinal hernia. Her karyotype analysis showed that she was 46, XY. She underwent a bilateral gonadectomy and long-term hormone replacement therapy. A Leydig cell tumour of the right testis was diagnosed postoperatively. This report also reviews the current understanding of the diagnosis and treatment of CAIS.

摘要

完全雄激素不敏感综合征(CAIS)是一种罕见的疾病,容易误诊。在青春期前,这种情况很容易误诊为腹股沟疝。本病例报告描述了一位 31 岁表型女性 CAIS 患者,她曾两次被误诊为腹股沟疝。她的核型分析显示她是 46,XY。她接受了双侧性腺切除术和长期激素替代治疗。术后诊断为右侧睾丸间质细胞瘤。本报告还回顾了目前对 CAIS 的诊断和治疗的认识。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f06e/9983103/3e500018af4e/10.1177_03000605231154413-fig1.jpg

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