女性假两性畸形的诊断和治疗

Diagnosis and Treatment of Female Pseudohermaphroditism

目的:探讨女性假两性畸形的临床诊断及治疗方法。方法:回顾性分析6例女性假两性畸形的临床资料:6例患者社会性别均为女性,年龄7～25岁,平均14岁。6例患者外阴发育异常;实验室检查促肾上腺皮质激素、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;CT检查双侧肾上腺呈弥漫性、串珠状增生。6例患者均行女性外阴整复术和皮质激素替代治疗。结果:术后外阴外观满意,第二性征接近女性。2例患者术后1个月获得随访,外阴呈正常女性外阴,无尿失禁、尿道阴道瘘等并发症发生。4例患者术后2年复查,月经规律,有自然排卵,毛发浓密粗黑减轻,乳腺较前明显增大,大阴唇开始发育。结论:女性假两性畸形患者应尽早诊治。外阴整复术和皮质激素替代治疗可使患者获得满意的治疗效果和生活质量。

Objective：To discuss the diagnosis and treatment of female pseudohermaphroditism. Methods：The clinical data of 6 patients with female pseudohermaphroditism were reviewed retrospectively. 6 patients were female in the society, with age range from 7 to 25 years old and the average age was 14 years old. All the 6 patients presented with abnormal development of vulva. The laboratory examinations showed that the adrenocortleotropin and testosterone increased and the sex chromosomes karyotype of 46XX. The uterus and ovary were found by t：1 type ultrasound, while the testis was not. Prolongation and twist of bilateral adrenal gland were illustrated by CT. The combined treatment of reconstructive surgery and supplementary glucocorticoid were performed in 6 cases. Results：The postoperative appearance of external genitalia was similar to the normal. The secondary sex characters were improved obviously. 2 cases showed a normal female genital vulva after 1 month follow-up, and no urinary incontinence, urethra-vaginal fistula and other complications occurred. In 4 patients after 2-year follow-up, regular menstrual and natural ovulation occured, bushy hair reduced, significantly larger breast presented, and the labia majora began to develope. Conclusions：The diagnosis and treatment of female pseudohermaphroditism at the early stage are very important. The combination of surgery and medicine is a satisfactory therapy for those patients.