男性假两性畸形14例报告

在遗传基因无异常的情况下，男性胚胎因种种因素发生午非管分化不全、苗勒管退化不全以及尿生殖窦、尿生殖结节发育不全时，即形成男性假两性畸形。我院收治男性假两性畸形14例，现报告如下。1资料与方法1．1临床资料本组14例，社会性别女9例，男5例，年龄6～32岁，平均17岁。12例外生殖器畸形，明蒂肥大，阴囊呈大阴唇样，尿道开口在阴蒂下部或会阴部；6例有盲端阴道开口；5例乳房发育如青春期女性，但乳头呈男性样；6例睾九位于阴唇或阻囊内；6例睾丸位于腹内，2例睾九位于腹股沟内环和外环处。染色体核型均为46，XY。6例剖腹探查取性腺…     

带蒂皮瓣一期成形矫治男性假两性畸形

作者采用自行设计“阴唇”带蒂蝶形皮瓣男性外生殖器一期成形术矫治男性假两性畸形3例,使患者恢复男性外生殖器外观。文章介绍了手术方法和操作要点。手术显露出埋藏于皮下的完全隐匿型阴茎,使阴茎下屈矫正、阴茎成形、正位尿道口尿道成形、双侧睾丸下降固定和阴囊成形手术一次完成。随访6～22个月,新形成的阴囊、阴茎和尿道发育良好,睾丸也发育良好。患者从下蹲位排尿改变为站立姿势排尿,尿线集中,尿流通畅,射程远,尿道皮管无坏死,无尿瘘,无尿道或尿道外口狭窄等并发症。文章还对此术式的可行性和手术时机的选择等进行了讨论。     

女性型男性假两性畸形1例

1 病例摘要 患者17岁，社会性别：女性。以无月经来潮和双乳房不发育入院。查体：体重45妇，身高167cm，智力发育正常，呈瘦长体型，可见喉结，双乳平坦，乳头乳晕较正常女性小，无唇须和腋毛，且毛呈男性分布，臀部非女性型，两侧腹股沟处分别可触及一约1cm×1cm×2cm肿物，质软，活动，无压痛。女性外阴，大阴唇如正常女性，小阴唇未见，阴蒂肥大，长约3cm，直径1．2cm，有幼儿型阴道，深约2cm，阴道口有处女膜样结构，阴道近端呈盲管状，妇科查体及B超检查，未见子宫和卵巢，尿道口位于阴蒂和阴道口之间，染色体核型为46，XY。治疗行双侧腹股沟肿物切除术及阴蒂成形术，病理报告为双侧发育不良之睾丸组织。诊断：男性假两性畸形。     

真两性畸形病因学研究进展

真两性畸仍遗传异质性，随着人们对性别决定机制的了解，对本病的发病机制也有了一定认识。本文拟对近年来真两性畸形的分子病因学研究做一综述。     

真两性畸形病因学研究进展

真两性畸形具有跗异质性，随着人们对性别决定机制的了解，对本病的发病机制也有了一定认识。本文拟对近年来真两性畸形的分子病因学研究做一综述。     

腹腔镜诊治男性假两性畸形2例

例1女，14岁。因无月经来潮于2005年8月17日就诊，诊断男性假两性畸形入院。查体：身高160cm，多体毛和腋毛，乳房未发育，有喉结突出。妇科检查：阴毛密，呈倒三角男性分布，阴蒂肥大长约2．5cm，阴道呈盲端.     

Gonads and genital ducts in a case of male pseudohermaphroditism

We describe a patient with a 46,XY karyotype, ambiguous external genitalia and partial 17a-hydroxylase deficiency in whom we performed a light microscopic study of the gonads and genital ducts. The right and left testes and epididymides were hypoplastic whereas the right vas deferens was normal, the left one was atretic and a left infundibular remnant was also present, which could be due to a concomitant deficiency in testicular secretions in the early stages of embryonic development or to the possibility of receptor insensitivity for testicular hormones or to a concomitant gonadal dysgenesis.     

Management of neonates and children with male pseudohermaphroditism.

Twenty-five patients with male pseudohermaphroditism were treated. Causes included (1) inadequate testosterone production, (2) incomplete conversion of testosterone to dihydrotestosterone, and (3) insufficient androgen-binding protein at the target cell. These various problems can be defined accurately today. These infants should be studied early to define which gender role is more appropriate. Change in gender assignment later can be disastrous. An individual raised in the female role, but with incomplete internal structures, can cope with life better than one raised in the male role but lacking a satisfactory phallus. In general, we believe most male pseudohermaphrodites should be raised as females, performing appropriate alterations at an early age.     

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。     

假两性畸形诊断与治疗特点分析(附15例报告)

目的 探讨假两性畸形的临床诊断及治疗特点.方法 对2002年7月至2008年4月本院收治的15例男性、女性假两性畸形的诊断及治疗进行回顾性研究.结果 15例患者中,13例为男性假两性畸形,2例为女性假两性畸形.男性假两性畸形中3例术后生理性别为男性,1例放弃矫形治疗,9例术后为女性,终生雌激素维持性征;女性假两性畸形2例均行手术治疗,术后恢复均良好.结论 在病因诊断基础上,结合患者社会性别、手术条件、患者及家属意愿等情况,因人施治,可取得最佳治疗效果.     

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     

女性假两性畸形患者的心理分析及干预

目的:探讨心理干预措施在女性假两性畸形患者手术治疗中的作用.方法:通过对12例女性假两性畸形患者采取恰当的术前、术后心理分析及相应的干预措施,让患者达到了身心合一的治疗目的.结果:本组所有患者获得了满意的整形手术效果,同时能够身心愉悦的融入社会生活.结论:全面分析女性假两性畸形患者的心理状况,并采取有针对性的心理干预措施,才能在保证手术效果的同时帮助他们重新融入社会.     

男性假两性畸形的诊断与治疗(附21例报告)

目的 总结和提高男性假两性畸形的诊治水平。方法 总结21例男性假两性畸形者的临床资料。其中，社会性别女性19例，男性2例。年龄6～31岁，平均13岁。临床表现为外生殖器外观异常、双侧腹股沟或大阴唇肿块。性染色体核型均为46，XY。术前经血生化、B超、CT等检查确诊20例，误诊1例。结果 21均行手术治疗，均维持社会性别。15例随诊3～8年，14例维持女性性别者术后口服雌激素替代治疗，第二性征明显改善，11例青春前期身体发育正常，术后外生殖器外观满意、感觉良好；1例维持男性性别患者青春期乳房发育明显。结论 尽早诊治对治疗效果及患者生活质量有重要意义，维持女性性别的手术可以作为治疗男性假两性畸形的首选方法。     

Ambiguous genitalia: an overview of 17 years' experience

Aim

The newborn with abnormal genital development presents a difficult diagnostic and treatment challenge for the pediatric surgeon providing care. The purpose of this study was to evaluate the results of surgical treatment for children with ambiguous genitalia.

Patients and Methods

The records of 85 children managed surgically for ambiguous genitalia in our unit from 1988 to 2005 were reviewed retrospectively. Age at surgery, operative procedures, sex of rearing, and outcome were recorded.

Results

The intersex committee's decision concerning sex assignment was female for 62 children (75%) and male for 23 children (25%). The etiologies of children reared as female were congenital adrenal hyperplasia (n = 37), male pseudohermaphroditism (n = 12), mixed gonadal dysgenesis (n = 6), true hermaphroditism (n = 4), and Mayer-Rokitansky syndrome (n = 3). Fifteen children with male pseudohermaphroditism, 5 children with congenital adrenal hyperplasia, and 3 children with true hermaphroditism were reared as male. The mean age at surgery was 4.4 years and follow-up period averaged 7 years. Eighteen (29%) patients with feminization procedures and 8 (34%) of 23 patients with masculinization procedures experienced complications and required redo operations. Vaginal stenosis was the most common complication.

Conclusion

The surgical management of ambiguous genitalia has always been difficult, and it must be performed by skilled pediatric surgeon. Genital surgery in infancy needs to be reassessed in the light of literature findings revealing poor outcome. In patients who underwent feminizing genitoplasty, vaginal reconstruction should be delayed until adolescence to achieve better cosmetic and functional results.     

Molecular diagnosis of 5α-reductase-2 gene mutation in two Indian families with male pseudohermaphroditism

Aim: To identify the genotype of two Indians with male pseudohermaphroditism. Methods: Standard radioimmu-noassay procedure was used for estimating hormonal levels. Conventional cytogenetic analysis was carried out for diagnosing the genetic sex in these subjects with genital ambiguity. Molecular analysis was carried out by standard polymerase chain reaction procedure using different sets of primers and reaction conditions specific for the 5α-reductase type 2 gene (SRD5A2) gene. Direct sequencing was carried out using the ABI Prism dye terminator sequencing kit and the ABI 310 sequencing apparatus. Results: We found an SRD5A2 gene mutation in exon 5, where arginine is substituted with glutamine (R246Q), in two males with pseudohermaphroditism and ambiguous genitalia from unrelated families. This is the first time this mutation has been reported in individuals from India. Conclusion: Identification of the R246Q mutation of the SRD5A2 gene from two unrelated Indian families possibly extends the founder gene effect.     

1098例胆管扩张症的病因构成及分类

目的 探讨胆管扩张症的病因构成及分类,提高诊断水平。方法回顾性分析2000年1月至2009年12月收治的1098例胆管扩张症的临床资料。结果 先天性胆管囊肿69例(6.3％),继发性胆管扩张1029例(93.7％)。22种病因中,排在前5位的病因分别为胆管结石(366例,33.3％)、胰头癌（137例,12.5％）、壶腹周围癌（122例,11.1％）、胆管癌（68例,6.2％）、慢性胰腺炎或胰头部囊肿（62例,5.6％）。结论胆管扩张症可分先天性和继发性两大类,先天性胆管囊肿约占6.0％;继发性胆管扩张占绝大多数（约占94.0％）。后者又可以分压力性、撑开性、压迫性、感染性、代偿性、粘连性六种扩张类型。最常见的病因是胆管结石、胰头癌和壶腹周围癌。