21羟化酶缺乏致女性假两性畸形的治疗效果

目的 探讨21-羟化酶缺乏（21-hydroxylase deficiency，21-OHD）致女性假两性畸形的临床诊断及治疗方法。方法 21-羟化酶缺乏症患者24例，女，平均年龄5岁8个月。临床表现为男性化征象，阴蒂肥大、外生殖器模糊不清、身材粗壮、声音低沉等，经醋酸氢化可的松替代治疗3～6个月后，采用保留阴蒂头阴蒂缩短整形术13例，阴蒂阴道成形术11例。结果 随诊2个月～7年，24例均完整保留了阴蒂头组织，22例外阴基本达到正常女性外观，2例阴道开口位置较高者尚待再行阴道成形术。8例进入青春期患者有正常女性性征出现。结论 21-羟化酶缺乏导致的女性假两性畸形应首先行内分泌治疗，外阴显著异常者需结合外阴矫形术，以达到满意效果。

Combined treatment of female pseudohermaphroditism caused by 21-hydroxylase deficiency

Objective To evaluate the diagnosis and treatment of female pseudohermaphroditism caused by 21-hydroxylase deficiency. Methods This study included 24 female patients (mean age,5.7 years) who appeared severely virilized (enlarged clitoris,ambiguous genitalia,strapping,deep-voice).After treatment with sufficient hormone therapy (hydrocortisone acetate for 3-6 months),all the 24 cases underwent genitoplasty.Of them,13 cases underwent clitoroplasty (corporal resection) and 11,clitorovaginoplasty. Results Follow-up was conducted for 2 months to 7 years;all the 24 patients kept perfect glans of clitoris.Of them,22 cases obtained female external genitalia and 2 cases waited for vaginoplasty.Eight cases who were in puberty manifested female sexual characteristics. Conclusions Patients with female pseudohermaphroditism caused by 21-hydroxylase deficiency should be firstly treated with hormone therapy.For the patients with external genital abnormality,genitoplasty is needed to obtain good cosmetic effect of the external genitalia.