Liao Kangji, Wang Ying, Yi Xianlin
Department of Urology, Wuming Hospital of Guangxi Medical University, Nanning, 530199, Guangxi, China.
Department of Urology, Maternal and Child Health Hospital of Hubei Province, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei, China.
J Med Case Rep. 2025 Mar 13;19(1):113. doi: 10.1186/s13256-025-05139-9.
Complete androgen insensitivity syndrome is caused by inactivated mutations in the androgen receptor gene, which results in complete androgen resistance and a female phenotype with a 46,XY karyotype. This condition is rare in twins.
We report on a Han Chinese twin girl, aged 18 years, with the presence of a vagina and breasts but no uterus and ovaries and chromosomal karyotype analysis showing 46, XY, who was diagnosed with complete androgen insensitivity syndrome. The patient underwent bilateral gonadectomy and hormone replacement therapy, and pathological diagnosis showed immature testicular tissue development.
In addition to rebuilding the external genitalia and preventing the emergence of gonadal tumors, continuing hormone replacement therapy after surgery is critical for the treatment of complete androgen insensitivity syndrome, and patients' psychological difficulties should be addressed.
完全性雄激素不敏感综合征由雄激素受体基因的失活突变引起，导致完全雄激素抵抗以及具有46,XY核型的女性表型。这种情况在双胞胎中很罕见。
我们报告了一名18岁的汉族双胞胎女孩，有阴道和乳房，但无子宫和卵巢，染色体核型分析显示为46,XY，被诊断为完全性雄激素不敏感综合征。患者接受了双侧性腺切除术和激素替代治疗，病理诊断显示睾丸组织发育不成熟。
除了重建外生殖器和预防性腺肿瘤的出现外，手术后持续的激素替代治疗对于完全性雄激素不敏感综合征的治疗至关重要，同时应关注患者的心理问题。
