先天性肾上腺皮质增生致女性假两性畸形的诊治(附四例报告)

目的　报告 4例先天性肾上腺皮质增生所致女性假两性畸形患者的激素替代治疗加手术整形的效果。　方法　 4例患者 ,年龄分别为 11、15、14、2 0岁。通过病史、超声、血清激素测定及染色体分析 ,确诊为先天性肾上腺皮质增生所致女性假两性畸形 ,利用会阴皮瓣行阴蒂和阴道成形术。　结果　术后短期应用雌孕激素调整月经周期 ,终生服用氢化可的松 (10～ 2 0mg ,bid)替代治疗。术后患者均月经来潮 ,乳房发育 ,阴道通畅未发生缩窄。　结论　此病易误诊为男性尿道下裂并双侧隐睾 ,诊断除详细体检外 ,还应进行血清激素测定、腹部超声检查及染色体分析。合理利用会阴和阴蒂皮瓣再造阴唇、阴道和阴蒂 ,同时加强围手术期处理 ,可以取得较满意的疗效。

Diagnosis and treatment of female pseudohermaphroditism caused by congenital adrenal hyperplasia ( report of 4 cases )

Objective To report the effect of hormone replacement plus orthopedic surgery for 4 patients with female pseudohermaphroditism caused by congenital adrenal hyperplasia. Methods Four patients with female pseudohermaphroditism caused by congenital adrenal hyperplasia were included.On admission their ages were 11,15,14 and 20 years,respectively.The diagnoses were confirmed by medical histories,ultrasonography,serum levels of hormones and chromosome analysis.They all underwent clitoroplasty and vaginoplasty with perineal skin flap. Results After operation the patients received estrogen and progestogen for a short time to adjust the menstrual cycle and hydrocortisone replacement(10 to 20 mg,twice a day) for their lifetime.Normal menstruation and well-developed breasts were observed in all the patients.No constriction occurred in the reconstructed vaginas. Conclusions This disease can be easily misdiagnosed as hypospadias with bilateral cryptorchidism.Therefore,in addition to careful physical examination,the measurement of serum hormones,ultrasonography of the abdomen,and chromosome analysis are necessary.Proper utilization of the perineal skin flap for reconstruction of the clitoris and vagina as well as careful perioperative managements in combination with hormone replacement therapy can greatly contribute to satisfactory results.