Clinical analysis of the diagnosis and treatment of androgen insensitivity syndrome (Report of 6 cases)
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摘要: 目的：探讨雄激素不敏感综合征（androgen insensitivity syndrome， AIS）患者临床诊断和治疗方法，提高对AIS的诊治效率。方法：回顾性分析我院1985年9月~2012年6月收治6例AIS患者的临床特征，诊断与处理。所有患者均进行了染色体，性激素六项，下腹部B超，术中切除组织病理检测等检查，其中5例患者给予手术切除性腺组织，术后给予小剂量雌激素治疗，1例给予保守治疗。结果：AIS患者多以原发闭经就诊，染色体核型均为46，XY。性激素六项中除了睾酮和LH升高外，其余项未见明显异常。术中切除组织病理检查提示睾丸间质细胞和支持细胞组成的正常睾丸组织，未发现睾丸肿瘤。所有手术患者均未出现女性第二性征发育停滞及骨质疏松等性腺切除后并发症。结论：AIS患者多以"原发闭经就诊"，染色体核型分析联合下腹部B超检查均能有助于AIS快速检出，手术切除性腺具有安全行和可行性。同时加强AIS遗传病史家族胎儿染色体筛查有重要意义。Abstract: Objective: Objective To investigate the diagnosis and the treatment of androgen insensitivity syndrome patients to improve the efficiency.Method: A retrospective analysis were performed with total of six cases of androgen insensitivity syndrome patients on clinical features, diagnosis and treatment from September 1985 to June 2012 in our hospital. All surgical patients have examined the chromosome, the Sex hormone levels, the lower abdominal B ultrasound, the pathological examination and other tests. Five cases of these were treated with surgical way to removal the gonadal tissue and were given the long-term treatment with low-dose estrogen after the operation. One case have taken the conservative treatment.Result: Androgen insensitivity syndrome patients often go to treat as the reason of primary amenorrhea. These people often have a karyotype of 46, XY and have a normal hormone levels except testosterone and LH's levels increased. Intraoperative removal of pathological examinations show a normal testicular tissue which are composed of Leydig cells and Sertoli cells, and have not found any testicular cancer. All operations have not appeared the postoperative complications which like female secondary sexual characteristics stagnation and osteoporosis.Conclusion: Androgen insensitivity syndrome patients often go to treat as the reason of primary amenorrhea. The karyotype analysis and the lower abdominal B ultrasound test can contribute to diagnose the androgen insensitivity syndrome rapidly. It is a safe and reliable way to removal the gonads of these patients. It have a Significance to Strengthen the chromosome screening in Androgen insensitivity syndrome patients'family.
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Key words:
- androgen receptor /
- testis /
- androgen insensitivity syndrome
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