先天性肾上腺皮质增生所致女性假两性畸形诊治分析

目的：提高对先天性肾上腺皮质增生所致女性假两性畸形的诊断和处理水平.方法：分析15例先天性肾上腺皮质增生患者的临床表现与分型、实验室检查结果、治疗方法、治疗后月经及生育情况,探讨临床分型、治疗开始时间与预后的关系.结果：回顾性分析15例先天性肾上腺皮质增生患者诊治的病历资料,其中单纯男性化型14例,非典型型1例,无失盐型患者,外阴表现为PraderⅠ型8例,Ⅱ型6例,正常女性外阴1例.11岁以前及以后就诊者平均身高分别为150.4 cm及154.5 cm.11岁以前治疗者男性化表现不明显.规律治疗者多数月经规律,6人已婚,其中5人已生育,平均就诊年龄20.3岁,所育下一代2～15岁,发育及智力均正常.结论：先天性肾上腺皮质增生的临床表现与21羟化酶缺乏的程度有关,需终身皮质激素替代治疗.早治疗对改善患者男性化表现及延迟骨骺愈合效果明显.有外阴畸形者需行外阴成形术.     

Female pseudohermaphroditism in a prenatally diagnosed cloacal malformation with hydronephrosis,dilated bladder,hydrometrocolpos, and oligohydramnios

ObjectiveTo present female pseudohermaphroditism in a prenatally diagnosed cloacal malformation.Case reportA 29-year-old, primigravid woman referred for counseling at 17 weeks of gestation because of oligohydramnios and an intra-abdominal cyst in the fetus. The woman was not exposed to any virilizing agent during this pregnancy. She did not undergo any assisted reproductive technology for this pregnancy. Level II ultrasound showed a singleton with fetal biometry equivalent to 16 weeks, oligohydramnios, hydrometrocolpos, dilated bladder, and bilateral hydronephrosis. A diagnosis of cloacal malformation was made. The parents elected to terminate the pregnancy at 18 weeks of gestation. A 196-g fetus was delivered with a distended abdomen, a phallus-like structure, a small perineal opening below the phallus-like structure, and an imperforate anus. At birth, the fetus was misdiagnosed as a male with an imperforate anus and a perineal fistula. Cytogenetic analysis of the cord blood revealed a karyotype of 46,XX. Array comparative genomic hybridization analysis of the fetal tissues revealed no genomic imbalance. The phallus-like structure was an enlarged clitoris and contained accessory phallic urethra.ConclusionPrenatal diagnosis of cloacal malformation with ambiguous genitalia should be paid attention to avoid misdiagnosis of a male with an imperforate anus and a perineal fistula. Cytogenetic analysis is helpful to determine the sex under such circumstances.     

女性假两性畸形临床诊断及手术治疗经验

目的探讨女性假两性畸形的临床诊断及手术治疗的经验。方法 2000年3月～2011年10月收治女性假两性畸形10例,其中成人3例,年龄19～25岁,平均年龄21岁,儿童7例,年龄3～7岁,平均年龄4岁。10例患者均表现为外阴畸形,阴蒂不同程度肥大,长约1.9～4.5cm,平均3.2cm,直径0.4～1.1cm,平均0.6cm。阴唇融合,形似男性阴囊,但未触及睾丸、附睾组织。染色体核分析:46,XX,女性核型。彩超检查提示子宫、卵巢等女性内生殖器存在,且未见明显异常;未见明显睾丸、附睾等组织。10例患者均顺利行外阴整形术治疗,即仔细游离海绵体背侧神经血管束,使之与海绵体完全分离,并保存其完整性;部分切除肥大的阴蒂并保留阴蒂头,固定于耻骨阴阜下;若阴蒂过于肥大,可采用阴蒂楔形切口部分切除后缝合的方式缩小阴蒂;矫治大、小阴唇融合畸形,显露尿道外口和阴道外口。结果 10例手术均获得成功。手术时间100～120min,术中出血50～80ml。尿管拔除时间5～7天,术后7～10天出院。1月后复查,切口对合好,Ⅱ/甲愈合,整形后外阴与正常女性类似。结论外阴整形术是治疗女性假两性畸形阴蒂肥大的理想手术方法之一。术后能重建女性外生殖器,使患者外生殖器类似正常女性,提高患者的生活质量。     

5α-还原酶在相关疾病中的作用

5α-还原酶是雄激素代谢过程中的一种重要酶,此酶可将睾酮转化为活性更强的二氢睾酮,在体内广泛参与雄激素的代谢,发挥着重要的生理作用。该酶的缺陷可以导致局部组织或周身雄激素水平的异常,从而导致多种疾病的发生,如痤疮、雄激素源性脱发、多囊卵巢综合征、男性假两性畸形等。对该酶的研究具有重要的意义。     

Congenital adrenal hyperplasia: Experience at intersex clinic,AIIMS

During 1981–88, 63 cases of female pseudohermaphroditism (FPH) were seen at the Intersex clinic at AIIMS, of whom 34 (54%) were diagnosed as due to congenital adrenal hyperplasia (CAH). Though ambiguity was present at birth in most cases, only one child was brought immediately after birth, while 14 presented after one year. Family history of affected siblings and fetal wast-age was present in 10. Salt wasting symptoms were present in 13 (38.2%), evidence of early virilization in 10 (29.4%) and generalised hyperpigmentation in 7 (20.6%). Clitoromegaly was present in 30 children with labial fusion in 10 and scrotalisation of labia in 6. The urogenital opening was single in 25 (73.5%). Buccal smear was positive for sex chromatin in 19. Chromosomal pattern showed 46 XX in 33. Dyselectrolytemia was present in 16 children. Bone age was advanced in all. Adrenal hyperplasia could be documented in 3 on CT scan. All the girls were put on hydrocortisone or prednisolone, and fluodrocortisone was given only to children with salt wasting CAH. Children with CAH are being broght to medical attention much too late and investigative and therapeutic facilities are grossly inadequate. There is a need to educate primary care physicians for early case detection and provide minimum diagnostic and therapeutic facilities in regional centres. This article is based on the presentation in the “International Workshop on Recent Advances in Neonatal Surgery and Intersex Disorders” held at All India Institute of Medical Sciences, New Delhi from March 1–4, 1989. It was accepted for publication in 1991.     

保留阴蒂头及其血管神经蒂阴蒂成形术

目的探讨保留阴蒂头及其血管神经蒂阴蒂成形术在治疗阴蒂肥大中的应用效果。方法在阴蒂头近端约0.5cm处,环绕阴蒂切开皮肤及浅筋膜,保留阴蒂头及其背侧血管神经蒂,切除肥大阴蒂体部,重塑阴蒂外形。结果12例女性假两性畸形患者,术后切口均Ⅰ期愈合,再造之阴蒂完全成活,触觉敏感,外阴形态满意。结论保留阴蒂头及其血管神经蒂阴蒂成形术,可在改善阴蒂外观的同时,保留其感觉及勃起功能,形成符合美学和功能要求的新阴蒂。     

男性假两性畸形的病因学分析

目的 探讨男性假两性畸形的病因学特点. 方法回顾性分析42例男性假两性畸形患者的临床资料.社会性别女性39例,男性3例.年龄8～19岁,平均10岁.临床表现为外生殖器发育异常、隐睾、尿道下裂、盆腔包块或腹股沟区包块.染色体核型46,XY 39例;45,X/46,XY2例;45,X/47,XXY 1例.42例均经细胞遗传学、内分泌学、影像学及剖腹探查和病理学检查确诊.结果 42例均行手术治疗,按照亲属意见选择其社会性别.其中保留女性性别36例,根据其表现分别行子宫、输卵管切除,或睾丸、阴茎切除.阴道成形术.选择男性性别6例,分别行睾丸下降固定、尿道下裂修补和阴茎延长术.患者术后根据其保留社会性别分别给于雄激素或者雌激素替代治疗.随访33例,随访时间7～10年.保留女性性别者30例,第二性征获得改善;18例结婚未孕,性生活正常;6例婚后性生活不满意;未婚6例.保留男性性别者3例,1例术后1年并发精原细胞瘤后死亡;1例行尿道下裂修补及阴茎延长术后,勃起功能障碍,婚后未育;1例Müller管抵抗综合征患者外生殖器发育正常,有正常勃起反应.结论 男性假两性畸形病因包括雄激素抵抗综合征、睾酮合成酶缺乏、睾丸对LH/hCG抵抗、单纯型性腺发育不全、混合型性腺发育不全及MOiler管抵抗综合征.认识其病因对提高疗效及患者生括质量有重要意义.     

Pseudo-clitoromegaly associated with congenital prepubic sinus

We operated on a 12-year-old girl who had clitoromegaly and a sinus on the midline prepubic area congenitally. The prepubic sinus appeared to point to the clitoris on the preoperative magnetic resonance image, but the relation between the sinus and clitoromegaly was unclear. Gray-brown discharge was emitted at the site of dissection between the prepuce and clitoris and the size of the clitoris became normal. The sinus was excised, revealing a tract 1.5 cm long that extended to the retropubic sinus, and ended in a fibrous tract that was linked to the clitoris. This suggested pseudo-hypertrophy because of the discharge collected in the end of the prepubic sinus.     

男性假两性畸形的诊断与治疗初探(附47例报告)

目的提高对男性假两性畸形的诊断水平,总结治疗经验。方法回顾1982年至2005年间我院诊治的47名男性假两性畸形患者,其中最长随访时间23年,并结合文献对其病因、诊断、治疗进行讨论。结果47名患者临床确诊为男性假两性畸形,其中31名患者通过实验室、影像学等检查进一步明确病因学诊断。42名患者接受了手术治疗,24名术后性别为男性,18名为女性。24名男性患者中,第1次手术后恢复良好出院6名,第1次手术后恢复欠佳出院18名；在我院接受2次及2次以上手术共17例次。18名女性患者,均第1次手术后恢复良好出院,其中12名建议婚前再次手术成形。结论早期诊断对提高治疗效果意义重大,病因诊断对治疗有一定的指导意义,治疗应着重于性别选择和性腺处理两个方面,术后性别宜首选女性。