性发育异常中外生殖器性别不清患者165例临床分析

The Clinical analysis of 165 patients with ambiguous genitalia in disorders of sex development

目的探讨性发育异常患者中外生殖器性别不清的诊治方法。方法对浙江大学医学院附属妇产科医院收治的165例外生殖器性别不清患者的临床资料进行回顾性分析,对病因和临床诊治情况进行总结。结果 165例外生殖器性别不清患者中,先天性肾上腺皮质增生症28例(17.0%),早孕期外源性雄激素过多3例(1.8%),不完全型雄激素不敏感综合征69例(41.8%),45,XO/46,XY性腺发育不全56例(33.9%),真两性畸形7例(4.2%),睾丸退化综合征2例(1.2%)。165例患者均行外阴阴道整形术,其中133例切除了性腺。结论引起外生殖器性别不清有多种病因,临床需根据病因、外生殖器发育情况、染色体与性腺、社会性别、患者心理和个人意愿等制定相应的个体化治疗方案。

Objective To investigate the diagnosis and treatment of ambiguous genitalia in disorders of sex development. Methods The clinical setting of the 165 cases of patients with ambiguous genitalia was retrospective analyzed and the etiology and clinical diagnosis and treatment were summarized. Results Among the 165 cases of ambiguous genitalia, 28 cases （17.0%） were congenital adrenal hyperplasia, 3 cases （1.8%） were because of exogenous androgen excess in the early stages of pregnancy, 69 cases （41.8%） were imcomplete androgen insensitivity syn- drome, 56 cases （33. 9%） were 45, XO/46, XYmixed gonadal dysgenesis, 7 cases （4. 20/00） were true hermaphroditism and 2 cases （1.2 %） were testicular regression syndrome All of the patients underwent genital plastic surgery, and 133 cases underwent gonadectomy. Conclusion As multiple etiologies can cause ambiguous genitalia, a clinical comprehensive consideration of etiology, external genital development, chromosome and gonads, ,social gender, psychological and personal wish is important before the vulva plastic surgery and individual treatment.