雄激素不敏感综合征2例报道并文献复习

Androgen insensitivity syndrome: report of 2 cases and literature review

目的探讨雄激素不敏感综合征患者的诊断和治疗特点。方法选取2018年11月至2019年8月山西医科大学第一临床医院收治的2例雄激素不敏感综合征患者作为研究对象。分析其临床诊治过程,结合文献复习,探索雄激素不敏感综合征的诊治要点。结果雄激素不敏感综合征患者的临床表型多样,主要依靠基因检测、影像学检查及相关查体确诊,社会性别确定为女性的尽早行性腺切除术,术后长期雌激素替代治疗,择期可行阴道成形术或其他整形手术。结论通过检索文献了解到雄激素不敏感综合征在临床上极为罕见,患者存在睾丸生殖细胞瘤的风险,应在青春期后尽早行性腺切除术,腹腔镜探查切除术可作为其首选手术方式。

Objective To investigate the diagnosis and treatment of androgen insensitivity syndrome. Methods Two patients with androgen insensitivity syndrome admitted to the First Hospital of Shanxi Medical University from November 2018 to August 2019 were selected as the research subjects. The key points of diagnosis and treatment of androgen insensitivity syndrome were explored through literature review. Results The clinical phenotypes of the patients with androgen insensitivity syndrome were varied, which were mainly confirmed by gene detection, imaging examination and relevant physical examination. If the gender is confirmed as female, gonadectomy should be performed as soon as possible, long-term estrogen replacement therapy after surgery, and vaginoplasty or other plastic surgery can be performed at an appropriate time. Conclusions A review of the literature indicates that androgen insensitivity syndrome is a rare clinical condition with a risk of testicular germ cell tumor, and gonadectomy should be performed as early as possible after puberty. Laparoscopic exploratory resection is the preferred surgical method.