尿道下裂合并其他泌尿生殖系统畸形的临床分析及治疗

目的 :分析尿道下裂合并畸形的发生情况及其在临床诊治中的意义。　方法 :对 1970年 1月～ 2 0 0 3年 1月我院收治的 341例尿道下裂病人合并其他泌尿系统畸形情况进行分析 ,了解各种畸形发生情况及处理方法。　结果 :先天性尿道下裂合并泌尿系统畸形的发生率高达 2 1.1% ,其中以隐睾及腹股沟疝最多见 ,而且畸形发生率与尿道下裂严重程度相关。　结论 :尿道下裂及其合并畸形应作为整体疾病对待 ,对应各种合并畸形应采取相应方法进行治疗 ,在临床工作中应重视尿道下裂及其合并畸形的处理     

21例尿道下裂合并其他泌尿生殖系统畸形的治疗体会

先天性尿道下裂是最常见的先天性发育异常之一,发病率约占男性人群1∶125~1∶250[1]。先天性尿道下裂长期被认为是生殖器官的局部先天畸形,但临床上常见合并其他男性生殖系统畸形。尿道下裂的临床处理过程中应对其合并畸形有正确的认识及处理,解决尿道下裂及其合并畸形问题对病人日后生活质量的提高有着重要的意义。我院2003年1月~2005年手术方法尿瘘尿道狭窄尿道扩张治疗人数并发症率Duckett法1 0 0 7 14.3%Duckett Duplay法2 1 1 14 28.6%合计3 1 1 21 23.8%2治疗效果尿道下裂成形术后并发症主要包括尿瘘、尿道狭窄、尿道憩室状扩张等。…     

男性先天性尿道下裂并假女性畸形2例

1 病例报告 例1,男,7岁,以外阴畸形7年之主诉,按两性畸形诊断收住院。小儿生后以女性喂养,2岁时家长发现双侧腹股沟有实质性小包块,当地医院B超诊断该包块为睾丸,做性染色体检查为:46XY。查体:外阴似女性,“阴蒂”长约1cm,直径0.5,双侧皮下环处可扪及实质性包     

尿道下裂手术的新进展及新认识

尿道下裂是男性泌尿系统较常见的先天性畸形之一,表现为尿道异位开口于尿道腹侧的任何部位,甚至阴囊、会阴,并伴有不同程度的阴茎向腹侧弯曲、畸形,致阴茎勃起时疼痛.Leung和Robson[1]报道,男性患儿在出生时尿道下裂的发生率为0.04%～0.82%,而手术矫形是其治疗的唯一方法.     

先天性小耳畸形合并先天泌尿生殖系统畸形发病率的研究

目的 研究先天性小耳畸形合并泌尿生殖系统先天畸形的发病率,分析两者的相关性。方法 回顾性分析2015年1月至2019年12月3 143例小耳畸形患者,通过肾脏超声或腹部CT检查,统计其中合并泌尿生殖系统畸形的病例,并对其畸形进行分类;对先天性小耳畸形合并泌尿生殖系统畸形患者的发病情况、患耳侧别与泌尿生殖系统畸形侧别之间的相关性等进行分析。结果 在3 143例小耳畸形患者中,163例伴有泌尿、生殖系统方面的畸形,包括单侧肾脏缺如、肾脏发育不全、肾脏积水、尿道下裂、睾丸发育异常等,总发病率为5.2%。数据分析显示,先天性小耳畸形伴发先天性泌尿生殖系统畸形的患者中,Ⅱ度小耳畸形的占比最高,肾积水、肾囊肿和睾丸发育异常的占比较高,且先天性小耳畸形的侧别与先天性泌尿系统畸形的侧别具有相关性。结论 泌尿生殖系统畸形在先天性小耳畸形患者中比一般人群中发病率高,且两者大概率是同侧畸形,可通过体格检查、肾脏超声及腹部CT诊断。先天性小耳畸形患者的诊疗中应关注患者肾脏功能,以改善此类患者预后。     

HOX基因与泌尿生殖系统畸形

小儿泌尿生殖系统畸形,如尿道下裂等在先天性疾病中占有一定比例且其发生率逐年升高,引起社会广泛关注.经研究对其发病原因有了一定了解,但对其最终的发病机制仍知之甚少.近年有报道HOX基因与泌尿生殖相关畸形综合征有关,本文就其相关研究进展作一综述.     

尿道下裂修补术的改进

尿道下裂的手术方法颇多 ,近年来有关一期手术的报道较多 ,但均易并发尿道瘘或尿道狭窄。为此 ,我们提出了一种改良的二期尿道下裂修补术的手术方法 ,1 998年 6月～ 2 0 0 2年 6月 ,我们采用此方法修补尿道下裂患者 2 4例 ,疗效甚好 ,现报告如下。1　资料与方法1 .1 　 一般资料本组 2 4例 ,年龄 3～ 8岁。其中阴茎头型尿道下裂 3例 ,阴茎型尿道下裂 1 8例 ,阴茎阴囊型尿道下裂 3例。1 .2 　 手术方法手术分两期进行 ,一期矫正阴茎弯曲 :于阴茎腹侧冠状沟下方 0 .5ｃｍ处纵形切开皮肤至尿道外口 ,两侧皮肤稍加分离后 ,彻底清除纤维索条及挛…     

背侧带蒂包皮皮瓣治疗先天性尿道下裂畸形12例

1 临床资料 1999～2001年,我们采用背侧包皮带蒂皮瓣成形尿道治疗先天性尿道下裂12例,年龄2～12(平均4.2)岁,其中阴茎型7例,阴茎阴囊型5例,连续硬膜外麻醉,小儿加用基础麻醉,龟头缝线牵引,分离龟头与包皮粘连,从尿道口插入8～12号多孔硅胶尿管,距冠状沟0.5cm处作包皮环形切口,直达阴茎白膜,沿白膜游离阴茎皮     

尿道下裂修复术中的取材

尿道下裂是男性下尿路及外生殖器最常见的先天性畸形。其修复手术方式取材种类很多。包皮、阴囊皮瓣、膀胱粘膜、口腔粘膜、睾丸鞘膜是尿道成型术中比较常用的材料，各有其特点。尿道修复术中取材的选择对于提高手术成功率，减少并发症的发病率有重要影响。本文对有关尿道下裂修复手术中取材的文献进行了综述。     

先天性尿道下裂与SRY基因关系的探讨

目的 探讨尿道下裂与SRY基因的关系及意义。结果 采用PCR方法对42例先天性尿道下裂患者外周血白细胞进行SRY基因检测。结果 发现2例染色体核型为46,XY患者SRY基因缺失,DNA样品加入EF3、ER3引物及新Taq酶后,PCR反应结果可见332bp的Sox9基因片段,对照46,XY正常成年男性基因组DNA扩增产生436bpSRY基因片段。结论 （1）SRY基因不是性别决定的唯一基因。SRY基因缺失或突变可能导致性发育的一系列异常改变,尿道下裂的发生与SRY的缺失、变异有关。（2）先天性尿道下裂是一种性别发育异常,尿道缺失是性腺发育不全表现。（3）对尿道下裂患者进行SRY基因检测有一定的临床意义。     

机器人手术系统在女性梗阻性生殖道畸形中的应用

目的:分析达芬奇机器人手术系统在女性梗阻性生殖道畸形中的临床应用效果.方法:回顾性分析空军军医大学第一附属医院2015年9月～2019年10月使用达芬奇机器人手术系统完成的梗阻性生殖道畸形手术患者7例的临床资料,统计分析不同生殖道畸形的分类、临床表现、手术方法、术后并发症、月经恢复情况和性生活满意度等.结果:7例患者中,宫颈发育异常者6例,阴道完全闭锁者4例,阴道下段闭锁者1例,合并子宫内膜异位症者6例,合并泌尿系统畸形者1例.所有患者均保留了有功能子宫,6例行宫颈成形术,5例行阴道成形术;所有患者均恢复规律月经,2例有性生活者性生活均满意.结论:对于梗阻性生殖道畸形的患者,达芬奇机器人手术系统能更好地重建生殖道解剖结构,保留有功能子宫.     

The position of the anal dimple in newborns and infants with anorectal malformations and its correlation with the normal anal position

Background/purpose

The anal position index (API) defines the normal anal position as the ratio of fourchette–anal distance to fourchette–coccyx distance for females and the scrotum–anal distance to scrotum‐coccyx distance for males. In this study, measurement of the API in newborns and infants with anorectal malformations (ARM), using the center of the midline anal dimple (AD) to represent the center of the proposed neoanus, was performed to assess whether or not the AD was located in a significantly abnormal position as correlated with the normal anal position.

Risk factors in internal urinary system malformations

Risk factors were studied in 370 children with internal urinary system (IUS) anomalies, coming from 105,374 consecutive births of known outcome. The incidence of IUS malformations was 3.51 per 1,000 births. Diagnosis was performed prenatally in 54.4% of patients. Two hundred and fifty-two patients had isolated IUS anomalies; 118 (31.8%) of the children had at least one non-urinary malformation. Fifty-five infants (14.8%) had recognized chromosomal and non-chromosomal syndromes. The more frequent non-urinary malformations were cardiac, digestive and limb anomalies. For each case a control was studied. The following features were assessed: sex ratio, parity and previous pregnancies, parental age, residency, education, ethnic origin, length, head circumference and weight at birth, genetic and environmental factors. Odds ratio values were calculated for risk factors. Weight, length and head circumference at birth were less than in the controls and the weight of the placenta was lower. Pregnancies with IUS anomalies were more often complicated by oligo-amnios and threatened abortions. Oligo-amnios was more frequent in pregnancies in which babies had multiple malformations and recognized syndromes with IUS anomalies. One child of every three with IUS anomalies had an extra-urinary malformation, which is 12 times the incidence of such malformation in our population. There was an increase in consanguinity in the parents of our patients. The incidence of IUS anomalies in first-degree relatives was 2.9%. First-degree relatives had more non-urinary malformations than controls (7.02 vs 3.2%). Our study demonstrated the high capacity of a general ultrasound screening programme to detect fetal malformations affecting the urinary tract.     

Short-term respiratory outcomes of neonates with symptomatic congenital lung malformations

IntroductionThe purpose of this study was to evaluate short-term respiratory outcomes in neonates with symptomatic congenital lung malformations (CLM).MethodsConsecutive newborns who underwent surgical resection of a CLM were retrospectively reviewed. Demographic, prenatal, and outcomes data were analyzed as appropriate (p < 0.05).ResultsTwenty-one neonates were managed at a median gestational age of 36.2 weeks [interquartile range (IQR), 33.8–39.0]. Endotracheal intubation was required in 14 (66.7%) for a median of 7.5 days [interquartile range (IQR), 3.0–25.8]. Three (14.3%) children underwent ex utero intrapartum treatment-to-resection, and another 14 (66.7%) had neonatal lung resections performed at a median age of 2.0 days (IQR, 0.08–19.5 days). Excluding one patient who received comfort care at birth, all neonates survived to hospital discharge with a median length of hospitalization of 36.5 days (IQR, 23.8–56.5). More than one-quarter were discharged on supplemental oxygen by nasal cannula. Based on a median follow up of 35.5 months (IQR, 19.0–80.8), CLM-related morbidity was still evident in 55.0%.ConclusionOur study suggests a high incidence of complications and chronic respiratory morbidity after neonatal lung resection for symptomatic CLMs. These data highlight the need to provide realistic expectations in perinatal counseling discussions with families and the importance of coordinating appropriate multidisciplinary follow up for these children.Level of Evidence: Level IV.     

尿道下裂手术效果的远期随访(附102例报告)

目的:探讨尿道下裂患者手术治疗后的远期效果。方法:设计调查问卷,对1982～1988年手术治疗的142例尿道下裂患者进行远期随访,并对随访结果进行统计学分析。142例中,102例将调查表填完整后寄回或直接来门诊接受调查。结果:102例中,30例对阴茎外观不够满意;61例有排尿问题,其中一期手术者有22例,二期手术者有39例;76例已婚或过同居生活,其中有23例有勃起方面的问题,25例有射精方面的问题。49例有不同程度的精神心理方面的问题。结论:提前手术年龄、选择合适的手术方式、提高第一次手术的成功率、降低手术的并发症,以及改进术后阴茎外观,对提高尿道下裂的远期效果是非常重要的。     

尿道下裂手术方法选择

目的 探讨不同类型尿道下裂手术方法的疗效。方法 总结分析手术治疗1435例首诊尿道下裂病例资料。结果 一次手术成功例数：合并阴茎下弯者，采用Duckett带蒂岛状包皮瓣尿道成形术506／748例（67．6％），Denis Browne皮条埋藏法224／332例（67．5％），阴囊中间皮肤岛状皮瓣法36／37例（97．3％），游离移植物法21／42例（50％）；无合并阴茎下弯者采用MAGPI术式92／95例（96．8％），Mathieu法146／165例（88．5％），King法6／7例（85．7％），Onlay加盖岛状皮瓣法6／9例（66．7％）。结论 尿道下裂的修复应根据有无合并阴茎下弯及病人的具体条件选择手术方法。     

Scrotal base distance: A new key genital measurement in males with hypospadias and cryptorchidism

Background:Anogenital distance (AGD) in both humans and animals is a known reflection of fetal endocrine effect on genital virilization and the related abnormalities, including cryptorchidism and hypospadias. However, we introduce here and investigate scrotal base distance (SBD) as a sensitive genital anthropometric biomarker in human infants with cryptorchidism and hypospadias, which are considered early manifestations of testicular dysgenesis syndrome. We aim to assess SBD in patients with cryptorchidism or hypospadias against healthy subjects.Material and methods:Patients with hypospadias (n = 61, age 17.4 ± 6.3 months) or cryptorchidism (n = 51, age 11.4 ± 4.8 months) were enrolled for assessment of SBD, AGD, and penile length; and compared with a cohort of 102 full-term healthy boys for standard ritual circumcision by measuring age-specific standard deviation scores.Results:Patients having hypospadias had lower mean SBD, AGD, and penile length standard deviation scores than the control group (p < 0.01). These values in patients with cryptorchidism were longer than mean values in boys with hypospadias (p < 0.01) and shorter than mean values in the control group.Conclusions:We showed that SBD, AGD, and penile length were lower in patients with cryptorchidism or hypospadias compared to normative data measured from a control group of healthy boys for ritual circumcision. These results enforce the use of SBD as an objective anthropometric measurement and a viable biomarker to assess the effects of fetal endocrine imbalance on male external genitalia development.     

Imiquimod治疗9例外生殖器尖锐湿疣的临床报告

目的观察用i miqui mod治疗9例外生殖器尖锐湿疣的疗效及相关问题。方法5%i mqui mod霜睡前使用1次,每周3次,致疣体消失为止,疗程不超过16周。结果5例疣体在用药5周后完全消失,2例在6周后消失,2例在用药4周后改用电灼术去除疣体。患者均有局部药物不良反应,可耐受。2例治疗结束后2个月复发。结论I miqui mod可用于治疗外生殖器尖锐湿疣。     

An arteriovenous malformation of the external ear in the pediatric population: A case report and review of the literature

The literature regarding arteriovenous malformations of the external ear is sparse. A case of a patient clinically diagnosed with an arteriovenous malformation of the external ear that was managed empirically with surgical excision, without recurrence, is presented. The pathogenesis, clinical presentation, radiological work up and management options regarding arteriovenous malformations are reviewed.     

An attempt to classify the malformations of the hand based on morphogenetic criteria

Summary At the present time there exist two internationally accepted classifications for the grouping of malformations of extremities: The anatomically and clinically orientated classification by Swanson (1976) and the anatomically and genetically founded classification by Temtamy (1966) and Temtamy and McKusick (1969 and 1978). In the introduction, the phylogeny and ontogeny of the extremities are considered. Under the aspect of phylogeny and ontogeny the groups I Failure of formation of parts, II Failure of differentiation (separation) of parts, III Duplication and VI Congenital constriction band syndrome of Swanson's (1976) classification are discussed. It is found that this anatomically founded classification is largely confirmed in the use of latest morphogenetic criteria and that only few modifications may be called for. In the light of present-day genetic knowledge the use of new classifications published in the literature, for example that of the cleft hand, appear doubtful, as they are based on mere by clinical criteria.