Complete androgen insensitivity syndrome: a case report and literature review

被引：6

作者：

Guo, Min ^{[1
,2
]}

Huang, Jin-Cheng ^{[1
]}

Li, Cui-Fen ^{[1
]}

Liu, Yan-Yan ^{[1
]}

机构：

[1] SSL Cent Hosp Dongguan City, Dept Gynaecol, Dongguan, Guangdong, Peoples R China

[2] SSL Cent Hosp Dongguan City, Dept Gynaecol, 1 Xianglong Rd, Dongguan 523000, Guangdong, Peoples R China

来源：

JOURNAL OF INTERNATIONAL MEDICAL RESEARCH | 2023年 / 51卷 / 02期

关键词：

Complete androgen insensitivity syndrome; gonads; hormone replacement therapy; case report; GERM-CELL TUMORS; GONADECTOMY; RISK; DISORDERS; MUTATIONS; UPDATE;

D O I：

10.1177/03000605231154413

中图分类号：

R-3 [医学研究方法]; R3 [基础医学];

学科分类号：

1001 ;

摘要：

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.

引用

页数：7

共 23 条

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