女性假两性畸形诊断和治疗

Diagnosis and treatment of female pesudohermaphroditism

目的探讨先天性肾上腺皮质增生所致女性假两性畸形的诊断和治疗方法。方法对5例先天性肾上腺皮质增生所致女性假两性畸形的临床资料进行回顾性分析。结果5例患者,社会性别女性4例,男性1例,年龄6～21岁,平均13岁,1例有母系两性畸形家族史。5例均外阴发育异常。实验室检查血皮质醇均低,促肾上腺皮质激素、睾酮升高,性染色体核型均为46XX,B超检查可见子宫、卵巢,未见睾丸。5例患者均行女性外阴整形术和糖皮质激素的综合治疗,术后外阴外观满意,第二性征接近女性。结论女性假两性畸形患者应尽早诊治。外生殖器畸形矫形术和皮质激素补充治疗可使患者获得满意治疗效果和生活质量。

Objective To study the diagnosis and treatment of female pesudohermaphroditism caused by congenital adenocortical hyperplasia. Methods The clinical data of 5 patients with female pesudohermaphroditism were analyzed retrospectively. Results The 5 patients age ranged from 6 to 21 years, and the average age was 13 years. All the 5 patients presented with abnormal development of vulva. The laboratory examinations showed cortisol decreasing, adrenocorticotropin and testosterone increasing, and the sex chromosomes karyotype of 46XX. B-type ultrasound detected the uterus and ovary, but the testis was not found. The combined treatment of reconstructive surgery and supplementary glucocorticoid were performed in 5 cases. The postoperative appearance of external genitalia was similar to the normal. The secondary sex characters were improved obviously. Conclusion The diagnosis and treatment in the early stage are very important. The combination treatment of surgery and medicine for the patients with female pseudohermaphroditism is satisfied.