21羟化酶缺乏女性假两性畸形的内外科联合治疗

目的 为了诊断和治疗２１羟化酶缺乏导致的女性假两性畸形。方法 １９９０年以来，对４例患者进行了外科手术和内科糖皮质激素的综合治疗。结果 ４例均得到了一个较完善的女性外阴，补充治疗了由于２１羟化酶先天性缺乏引起的一系列全身症状。结论 综合治疗使该病在临床上最满意结果。     

21羟化酶缺乏致女性假两性畸形的内外科联合治疗

目的　为了诊断和治疗 2 1羟化酶缺乏导致的女性假两性畸形。方法　 1990年以来 ,对 4例患者进行了外科手术和内科糖皮质激素的综合治疗。结果　 4例均得到了一个较完善的女性外阴 ,补充治疗了由于 2 1羟化酶先天缺乏引起的一系列全身症状。结论　综合治疗使该病在临床上获得了满意结果。     

21-羟化酶缺乏致外阴男性化畸形的手术治疗

比较单纯阴蒂切除术和保留血管神经的阴蒂成形术治疗 ２１ 羟化酶缺乏患者外阴男 性化畸形对婚姻、生育及性生活的效果。对 ２１ 羟化酶缺乏所致外阴男性化畸形患者共 ３２ 例。其中行单纯阴蒂切除术 １７ 例,坚持随访者 １６ 例;行保留血管神经的阴蒂成形术 １５ 例,坚持随访者 ８ 例。以信件、电话及门诊就诊等方式随诊。结果：阴蒂切除术组随诊 １６ 例中结婚 １２ 例,妊娠 ５ 例,生育 ４ 例。阴蒂成形术组随诊 ８ 例,其中结婚 ７ 例,妊娠 ５ 例,生育 ３ 例。阴蒂成形术组 ４ 例回答性生活十分满意,而阴蒂切除术组无一例回答这一问题。结论：阴蒂成形术保留了阴蒂的血液供应和神经支配,保留了阴蒂的性功能,明显提高了患者的性生活质量。     

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。     

女性假两性畸形的手术治疗

目的　探讨女性假两性畸形的手术治疗及改进的方法。方法　自 1994年 1月至 2 0 0 2年 2月 ,收治 4例女性假两性畸形患者 ,其中Ⅰ型 2例 ,Ⅱ型与Ⅲ型各 1例。根据畸形程度分别采用阴蒂成形术、大小阴唇再造术、尿道口与阴道口重建术再造逼真的女性外阴。结果　再造的外阴外形良好 ,功能正常。结论　手术治疗结合改进的方法可为女性假两性畸形患者重建逼真的外阴     

女性假两性畸形的手术治疗

目的探讨女性假两性畸形的手术治疗及改进的方法.方法自1994年1月至2002年2月,收治4例女性假两性畸形患者,其中Ⅰ型2例,Ⅱ型与Ⅲ型各1例.根据畸形程度分别采用阴蒂成形术、大小阴唇再造术、尿道口与阴道口重建术再造逼真的女性外阴.结果再造的外阴外形良好,功能正常.结论手术治疗结合改进的方法可为女性假两性畸形患者重建逼真的外阴.     

女性假两性畸形的手术治疗

目的 探讨女性假两性畸形的手术治疗及改进的方法。方法 自1994年1月至2002年2月。收治4例女性假两性畸形患者，其中Ⅰ型2例，Ⅱ型与Ⅲ型各1例。根据畸形程度分别采用阴蒂成形术、大小阴唇再造术、尿道口与阴道口重建术再造逼真的女性外阴。结果 再造的外阴外形良好，功能正常。结论 手术治疗结合改进的方法可为女性假两性畸形患者重建逼真的外阴。     

女性假两性畸形九例治疗体会

目的 探讨女性假两性畸形患儿外生殖器修复与重建的新方法.方法 对9例女性假两性畸形患儿采用肥大阴蒂缩小固定术、小阴唇重建术及外阴成形术等.结果 9例患儿术后随访1～3年,外阴形态均得到明显改善,术后外阴生长发育基本正常,心态恢复正常.结论 女性假两性畸形患儿应尽早进行适当的外生殖器修复重建手术,可有效矫正患儿外阴的畸形,促进女性外阴的正常发育.     

Rare association of female pseudohermaphroditism, phallic urethra, and posterior cloaca

We describe a child with the rare clinical entity of female pseudohermaphroditism, accessory phallic urethra, and posterior cloaca who was successfully treated with posterior sagittal anorectovaginourethroplasty. Masculinization was limited to the external genitalia, and no chromosomal, metabolic, or adrenal abnormalities were detected. Associated pathology included bilateral vesicoureteric reflux, a non functioning dysplastic kidney, and bicornuate uterus. The investigation and surgical management of this particularly challenging combination of anomalies is detailed.     

Height outcome of patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Objective:To retrospectively investigate the height outcome of patients with congenital adrenal hyperplasia(CAH)due to 21-hydroxylase deficiency(21-OHD).Methods:The 135 CAH patients with 21-OHD diagnosed in our hospital from Jan 1980 to Oct 2006 were retrospectively analyzed.The investigated parameters included final height(FH),FH standard deviation score(FH SDS),target height SDS(TH SDS),difference between TH and FH(TH-FH),FH SDS-TH SDS,the age of onset of sexual development,and the difference between bone age and chronological age(BA-CA)when patients got the FH.Results:Among the 135 patients,female/male=108/27.Mean FH was(156.8±5.4)cm(n=14)and(150.8±6.8)cm(n=76)for males and females,respectively.Mean FH SDS was(-0.6±0.8)(n=13)and(0.2±1.2)(n=54)for males and females,respectively.Sexual development began at(5.2±1.7)years old(y/o)(n=13)and(7.9±3.2)y/o(n=43)in males and females,respectively.Conclusions:The FH of CAH patients with 21-OHD was lower than that of the normal range.Effect of the disease on the height growth in male patients was more severe than that in females.All patients began sexual development much earlier than the normal age-matched group.Male patients began their sexual development even earlier.     

A posterior-based omega-shaped flap vaginoplasty in girls with congenital adrenal hyperplasia caused by 21-hydroxylase deficiency

OBJECTIVE: To describe a technical modification for constructing a vagina in girls with congenital adrenal hyperplasia caused by 21-hydroxylase deficiency, using a narrower skin base but rich subcutaneous tissue, aiming to obtain both longer and larger vaginal segments with better cosmesis of the external genitalia. PATIENTS AND METHODS: From August 1997 to February 2001, 28 girls (aged 5 months to 17 years) had a neovagina constructed using a posterior-based omega-shaped flap. Twenty-six patients had a low vagina entering into the urogenital sinus and two had a high vagina that entered the urogenital sinus. In those with a high vagina the flap procedure was combined with the Passerini-Glazel technique. All the patients were scheduled for vaginal "calibrations" during the first year after surgery and, according to the result, would then undergo vaginal dilatation. RESULTS: Six children were re-operated; five had plastic surgery to correct genital folds that had regained a scrotal aspect, whereas one with a high vagina developed a urethral stricture, with urinary dribbling and infection, and had the urethra reconstructed. These six children are currently well. No hormone therapy was given to one child for 1 year who is scheduled for further surgery for a re-virilized clitoris. Two patients were lost to follow-up. Up to the last visit, 19 girls had not developed a vaginal stricture and the cosmesis of their external genitalia was deemed good. CONCLUSION: The posterior-based omega-shaped flap enabled both the construction of wider vaginal segments with a low risk of developing stenosis in those with a low vagina, and increased vaginal dimension when associated with the Passerini-Glazel technique for those with a high vagina. However, despite good cosmesis of the external genitalia, the follow-up is too short to confirm whether this technique will meet all the expectations.     

孕酮在非经典型21羟化酶缺乏症和多囊卵巢综合征鉴别诊断中的作用

目的 寻找可用于鉴别诊断非经典型21羟化酶缺乏症（nonclassical 21-hydroxylase deficiency,NC21-OHD）和多囊卵巢综合征（PCOS）的简单方法.方法 对1991至2008年在我院诊断为NC21-OHD 9例患者及27例PCOS患者的基本临床特征和激素水平进行回顾性分析.结果 NC21-OHD患者年龄显著小于PCOS患者（P〈0.05）.NC21-OHD患者以多毛、月经异常、外阴异常等合并症状为主要就诊原因,临床特征还包括皮肤颜色变黑、声音增粗、痤疮、喉结等表现;PCOS患者上述体貌特征不明显,常以月经异常、不育就诊.NC21-OHD患者血清总睾酮（T）、孕酮（P）和黄体生成素（LH）分别为（11.1±6.25） nmol/L 、（14.95±8.9） nmol/L和（11.1±9.9） U/L;PCOS患者血清总T、P和LH分别为（2.43±1.39） nmol/L、（2.86±1.27） nmol/L和（8.9±5.6） U/L,各值比较差异均有统计学意义（P〈0.05）.雌二醇（E2）、卵泡刺激素（FSH）、LH/FSH在两组间比较均无统计学差异（P〉0.05）.结论 在临床背景上鉴别NC21-OHD和PCOS存在困难.卵泡期显著增高的P水平对NC21-OHD和PCOS初步鉴别诊断有一定提示意义.