尿道下裂患儿包皮组织中表皮生长因子

目的　探讨表皮生长因子（EGF）及其表皮生长因子受体（EGFR）在尿道下裂发生中的作用。方法　应用免疫组织化学染色方法对15例尿道下裂患儿包皮组织和尿道板中EGF、EGFR表达进行检测。结果　15例尿道下裂患儿包皮组织中EGF、EGFR阳性细胞指数分别为195±4、153±8,均低于正常儿童为212±4，225±6（P<0.01），尿道板中EGF、EGFR阳性细胞指数分别为153±8、118±7,亦明显少于其包皮组织（P<0.01）。结论　EGF、EGFR在包皮组织中的不足表达和不均衡分布可能与尿道下裂的发生有关。     

Ex-premature infant boys with hypospadias are similar in size to age-matched, ex-premature infant boys without hypospadias

Objective

Studies have postulated that hypospadias, prematurity, and low birth weight are linked by defects in androgen signaling. To determine whether premature, hypospadiac boys are small and remain so, we compared their size at birth and at hypospadias repair to premature boys who underwent post-neonatal circumcision.

Methods

We identified premature boys admitted to Texas Children’s Hospital who underwent either hypospadias repair or circumcision after 4 months of age. Age, weight, and height at birth and surgery were recorded.

Results

Fifty-four boys had hypospadias and 34 did not. For hypospadiac boys, the mean birth weight and age, height, and weight at surgery were lower than for boys without hypospadias. More importantly, length-for-age and weight-for-age percentiles were also lower for hypospadiac boys. When subset analysis was performed on boys younger than 2 years at surgery, however, there were no significant differences in height or weight between hypospadiac and non-hypospadiac boys.

Conclusion

Our series suggests that premature, hypospadiac boys are born smaller than age-matched, non-hypospadiac controls. However, there were no age-corrected size differences between hypospadiac and non-hypospadiac boys at surgery. This implies that hypospadiac boys exhibit post-neonatal ‘rebound’ growth. Global growth deficits, if any, do not persist in hypospadiac boys.     

FKBP52与尿道下裂相关性的研究

目的 研究雄激素伴侣蛋白FKBP52和先天性尿道下裂之间的相关性。方法 用免疫组织化学SP法半定量检测45例不同严重程度的尿道下裂患儿尿道板和包皮中FKBP52的表达,以正常男性包皮FKBP52的表达为对照。结果 尿道下裂组的包皮中FKBP52的(36/45,80％)表达较对照组(28/30,93.3％)包皮明显减少,尿道板中FKBP52表达(28/45,62.2％)比尿道下裂包皮(80％)的表达减少差异,均存在统计学意义;轻中度尿道下裂组包皮和尿道板中FKBP52的表达分别为83.3％(20/24)和75％(18/24),重度尿道下裂组分别为76.2％和47.6％(10/21),差异均无明显统计学意义。结论 FKBP52与尿道下裂发病密切相关,与尿道下裂严重程度无明显相关。     

Abnormal enteric nerve morphology in atretic esophagus of fetal rats with adriamycin-induced esophageal atresia

Gastroesophageal reflux is common in children after successful repair of esophageal atresia (EA), and may be related to a congenital neuronal abnormality of the esophagus. This study employed a fetal rat model of adriamycin-induced EA to investigate whether the innervation of the esophagus is abnormal in EA. The fetal rats were divided into four groups: (1) normal controls; (2) a saline-injected controls; (3) adriamycin administered but without the development of EA; and (4) adriamycin-induced EA. The distal esophageal segments were immunostained with a general neural marker, protein gene product 9.5 (PGP). Immunoreactivity per cross-sectional area (/xsa) was measured with an image analyzer. The extent of the esophageal circumference encircled by PGP-stained nerve tissue was assessed. While there was no significant difference in PGP immunoreactivity/xsa between the groups, the near-complete ring of nerve tissue along the plane of the myenteric plexus was replaced by clusters of nerve tissue in the atretic group (normal vs EA, P = 0.001, Mann-Whitney U test). The abnormal distribution of nerve tissue in the atretic esophagus may be contributing factor in the esophageal dysmotility seen in EA.     

Altered intramuscular innervation and synapse formation in internal sphincter achalasia

Internal anal sphincter achalasia (IASA) is a condition with a clinical presentation similar to Hirschsprung's disease, but with the presence of ganglion cells on rectal biopsy. The diagnosis of IASA is made on anorectal manometry, which demonstrates the absence of a rectosphincteric reflux on rectal balloon inflation. In order to understand the nature of neuronal abnormalities in this condition, we performed immunohistochemistry using PGP 9.5 (a general neuronal marker) and synapsin I (a presynaptic marker) in IAS specimens from 10 patients with IASA and 8 normal controls. In the IAS of normal controls, there were many PGP 9.5 and synapsin I-positive nerve fibers. In IASA PGP 9.5-immunoreactive fibers were markedly reduced and synapsin I-positive fibers were either absent or markedly reduced. Our findings demonstrate that the IAS in achalasia patients has defective intramuscular innervation as well as defective innervation of the neuromuscular junction, thereby contributing to the motility dysfunction.     

Hypospadias in Istanbul: Incidence and risk factors

Background: The aim of the present prospective study was to determine the incidence of hypospadias in newborns in one of the busiest teaching hospitals of Istanbul, and to investigate the risk factors. Methods: All live‐born boys delivered between September 2007 and December 2008 were screened for hypospadias. A questionnaire was given to the parents of the hypospadias and control subjects for investigation. Results: Out of 1750 boys examined, 34 had hypospadias, that is, the frequency was 19.4 per 1000 male live‐births and 93.7 per 10 000 total live‐born deliveries. The incidence of additional coexistent anomalies was 29.4%, predominantly urogenital (17.6%), the majority of which were cryptorchidism (14.7%). Twelve (35.3%) of the 34 hypospadiac boys had a second family member with a genital anomaly, nine (26.5%) of whom had hypospadias, three (8.8%) being the fathers. Mean birthweight, length and head circumference were significantly lower in the hypospadiac infants than the control group (P= 0.003, P= 0.025, P= 0.002). Although parity, parental consanguinity, hypospadias in family members, and low birthweight also varied significantly among the groups, logistic regression analysis indicated that maternal age, prematurity, coexistence of cryptorchidism and presence of genital anomaly among family members were independent risk factors for hypospadias (P= 0.016, P= 0.0001, P= 0.041, P= 0.0001, respectively). Conclusions: Genetic predisposition and placental insufficiency in early gestation might play a role in the etiology of hypospadias.     

The innervation of human bowel mucosa and its alterations in Hirschsprung's disease using a whole-mount preparation technique

 The innervation of the human bowel wall and its structural and functional changes in Hirschsprung's disease (HD) are well-recognised. The luminal surface of the bowel acts as a multifunctional barrier, and modifications in its physiochemical properties can result in serious complications such as enterocolitis (EC). The whole-mount preparation (WMP) technique produces a three-dimensional (3D) picture to better demonstrate the neuronal networks and the relationship of branching and interconnecting nerve fibres to each other. The aim of this study was to investigate the innervation of the mucosal layer in normal and HD bowel using a WMP immunohistochemistry technique in order to better understand the pathophysiology of HD. Full-thickness bowel specimens were collected from 9 HD patients at pull-through operation. Normal control small- and large-bowel specimens were collected from 10 patients at the time of bladder augmentation. Suction rectal biopsies from 8 patients with chronic constipation and 2 patients with HD were also included in this study. A WMP of the mucosal layer was made and stained with various neuronal markers (S100, PGP 9.5, and LlCAM) using fluorescein immunohistochemistry. PGP 9.5, S100, and LlCAM immunofluorescence staining of the normal mucosa demonstrated a characteristic 3D meshlike neuronal network of uniform thickness surrounding the crypts. In the aganglionic bowel S100, PGP 9.5, and LlCAM-positive meshlike networks were replaced by thick nerve trunks in the muscosa without any interconnecting network. The present study demonstrates for the first time the 3D morphology of mucosal innervation in normal and aganglionic bowel. The WMP technique clearly demonstrated that the mucosal innervation in HD is morphologically abnormal, and this may adversely influence secretory and absorptive functions of the bowel. WMPs using suction rectal biopsy specimens may be a useful additional technique to diagnose HD.     

Abnormal development of tracheal innervation in rats with experimental diaphragmatic hernia

Background  We previously demonstrated that tracheobronchial innervation, originated from the vagus nerve and hence of neural crest origin, is deficient in rats with experimental congenital diaphragmatic hernia (CDH). The present study examines the development of this innervation during fetal life in an attempt to understand the nature of these deficiencies. Materials and methods  Pregnant rats were given either 100 mg nitrofen or vehicle on E9.5. Embryos were recovered on E15 and E18. Control and nitrofen/CDH pups (n = 10 each) were studied on each of these days and compared with our previous results on E21. Whole mount preparations of tracheas stained for anti-protein gene product 9.5 (PGP 9.5) and smooth muscle contractile α-actin were examined under confocal microscopy for the morphology of intrinsic neural network. Sections of tracheas were immunostained with anti-low-affinity neurotrophin receptor (p75^NTR), neural cell marker PGP 9.5, and anti-glial cell marker S100 antibodies. The proportions of sectional areas occupied by neural and glial structures were measured in the proximal and distal trachea. PGP 9.5 protein, and mRNA expressions were determined. Mann–Whitney tests with a threshold of significance of P < 0.05 were used for comparison. Results  Positive staining for p75^NTR confirmed the neural crest origin of tracheal neural cells. The neural network appeared less organized on E15, and it was less dense on E18 in nitrofen-exposed embryos than in controls. The proportions of section surface occupied by neural elements were similar in both groups on E15, but that of glial tissue was significantly increased in nitrofen-exposed embryos. On E18, the relative neural surface was significantly reduced in CDH embryos in contrast with increased glial tissue surface. On E21 the proportion of neural tissue was reduced only in the distal trachea. The expression of PGP 9.5 protein was decreased in CDH fetuses on E18 and E21. In contrast, PGP 9.5 mRNA levels were increased in CDH fetuses on E18 and E21. Conclusions  The development of intrinsic innervation of the trachea in rats with CDH is abnormal with reduction of neural tissue accompanied by increase of glial tissue that could represent a response to neural damage. The significance of increased PGP 9.5 mRNA levels is unclear. Presented at the 21st International Symposium on Pediatric Surgical Research, Leipzig, Germany, 2–4 October 2008. F. Pederiva is a research fellow of the CAM (FPI-000760 Grant).     

Alterations in cholinergic and neuropeptide innervation of urinary bladder following partial bladder outlet obstruction

Posterior urethral valves (PUV) are the most common cause of bladder outlet obstruction (BOO) in infancy. Bladder instability, poor compliance and myogenic failure are responsible for the poor long-term prognosis in these patients. Previous studies have reported abundance of sensory neuropeptides, e.g. substance P (SP), calcitonin gene-related peptide (CGRP), vasoactive intestinal polypeptide (VIP) and acetylcholinesterase (AchE) nerves in the urinary bladder. We hypothesized that the functional changes in the bladder following BOO are due to alteration in cholinergic and sensory neuropeptide innervation.We therefore investigated cholinergic and sensory innervation of urinary bladder following BOO. Fifteen immature male guinea pigs (Hartley strain) 3-4 weeks old and weighing approximately 250 g. underwent placement of a silk ligature around the bladder neck to induce BOO. Controls included 5 sham-operated animals. The animals were killed 1, 2 and 4 weeks following obstruction, respectively. Whole-mount preparation and conventional sections of bladder wall were performed. AchE histochemistry, and single-label immunofluorescence histochemistry for SP, CGRP and VIP were utilized. Light microscopy and laser scanning confocal microscopy were used to assess the results. AchE staining showed marked increase in cholinergic innervation density within the suburothelial region following BOO. The staining for SP, CGRP and VIP demonstrated marked reduction in sensory nerve density within the suburothelial region 1 week following BOO and the lack of sensory innervation 4 weeks after BOO. The marked reduction in sensory innervation of the bladder and simultaneous increase in cholinergic innervation following BOO may lead to bladder instability and decrease in bladder compliance.     

Determination of infundibular innervation and amine receptor content in cyanotic and acyanotic myocardium: Relation to clinical events in tetralogy of Fallot

Summary Right ventricular myocardium was assessed for cholinergic and adrenergic innervation, as well as alpha-adrenergic, beta-adrenergic, and muscarinic receptors, in 18 cyanotic patients with tetralogy of Fallot (TOF) and four acyanotic control patients with ventricular septal defect, each of whom underwent a cardiac repair from June through December 1987.Neurons containing acetylcholine (ACH), neuron-specific enolase (NSE), S-100 protein, neuropeptide-Y (NPY), dopamine-beta-hydroxylase (DBH), and calcitonin gene-related polypeptide (CGRP) were detected surrounding arterioles and myocytes in all specimens. NSE and S-100 immunoreactivities were also identified in the cytoplasm of TOF cardiocytes, possibly indicating a neuroendocrine origin of these cells. Cardiocyte size was increased in TOF (p=0.05). Acetylcholine (cholinergic) (p=0.04) and CGRP (cholinergic) positive neurons (p=0.07) were decreased in the TOF as compared to controls. Adrenergic fiber content (p=0.15) and beta receptors (p=0.21) were similar in both groups. There was an increase in muscarinic receptors in the controls (p=0.002), and a marked increase in alpha receptors in TOF (p=0.019). There were no intragroup differences in the TOF patients according to degree of cyanosis.In conclusion, there were important differences in neuronal and amine receptor content between TOF and control patients. Increased alpha receptors in TOF could account for differences in clinical and hemodynamic events.     

孕期维生素A缺乏导致胎鼠肛门直肠发育畸形的实验研究

目的 观察维生素A缺乏(vitamin A,VA)对胎鼠肛门直肠畸形(anorectal malforma-tions,ARM)的发生和末端直肠肠壁内神经系统(enteric nervous system,ENS)发育的影响.方法 SD成年雌性大鼠60只,随机分为三组(于孕前2周开始每组喂以不同剂量的VA饮食至孕期结束):①VAD组(n:20只):喂以VA缺乏饲料;②正常对照组(作为阴性对照组,n=20只):喂以普通饲料;③ETU组(即乙烯硫脲组,作为阳性对照组,n=20只):喂以普通饲料.于妊娠第10天,ETU组经胃管注入1%的乙烯硫脲(ethylenethiourea,ETU)(125 mg/kg);于妊娠第20天,所有孕鼠行剖宫术取胎鼠.观察活胎鼠ARM发生率以及用免疫组织化学方法检测胎鼠末端直肠PGP 9.5和S-100蛋白的表达水平.结果 (1)血清VA水平:经VA缺乏饲料喂养2周后VAD组的血清VA浓度明显低于正常对照组(P=0.0310)和ETU组(P=0.0401);(2)ARM发生率:VAD组和ETU组的胎鼠ARM发生率分别为64.5%(20/31)、45.9%(61/133),两组之间差异无统计学意义(P>0.05);正常对照组未发现ARM;(3)免疫组织化学结果:①在有肛门胎鼠末端直肠中,PGP 9.5和S-100在VAD组中的表达明显低于ETU组(PGP 9.5的P值=0.0156、S-100的P值=0.0105)和正常对照组(PGP9.5的P值=0.0091、S-100的P值=0.0024), 而ETU组和正常对照组两组之间表达差异无统计学意义(P>0.05);②在无肛畸形胎鼠末端直肠中,PGP9.5和S-100在VAD组中的表达明显低于ETU组(P<0.0001);VAD组和ETU组的无肛胎鼠末端直肠中的表达均显著低于各自的有肛门胎鼠组(VAD组:PGP9.5和S-100的P值均<0.0001;ETU组:PGP 9.5的P值=0.0203、S-100的P值=0.0122).结论 孕期VA缺乏会导致胎鼠ARM的形成,胎鼠末端直肠ENS发育程度与其ARM有关.     

Quantitative Measurement of the Androgen Receptor in Prepuces of Boys with and Without Hypospadias

PurposeIdentifiable causes of hypospadias, a midline fusion defect of the male ventral urethra, are still infrequently well-known. The aim of this study was to quantify the androgen receptor mRNA and androgen receptor protein in prepuces of boys with and without hypospadias.Material and MethodsForty prepuce specimens of circumcised boys, aged between 12 and 14 months, with (n=20) and without hypospadias (n=20), were investigated. Immediately after surgery all probes were fixed in formaldehyde and small parts were deep frozen in liquid nitrogen at -80° C. The total RNA of the specimens was isolated and cDNA was written. With the aid of real time PCR the amount of present androgen receptor mRNA was measured. For quantification of present androgen receptor protein, Western Blot (Bradford method) and immunohistochemistry for androgen receptor using standardized automated procedures (Discovery XT, Ventana) were performed. Statistical analyses using the the Kolmogorov-Smirnov and Mann-Whitney U-test were done.ResultsOur observations show that the androgen receptor mRNA is significantly increased in the prepuce of hypospadiac boys compared to specimens of boys with phimosis.(p<0,01) similarly the amount of androgen receptor protein is increased compared to healthy boys. (p<0.01) Our results provide evidence that the rise of androgen receptor mRNA and protein seems to be an indirect expression of a decreased androgen receptor DNA binding capability possibly indicating further missing polypeptide encoding.ConclusionsOur results provide evidence that the different expression of androgen receptor mRNA indicates the extent of a defect androgen receptor signalling in boys with hypospadias.     

Assessment of the colon innervation with serial biopsies above the aganglionic zone before the pull-through procedure in Hirschsprung's disease

Different types of colonic dysganglionosis, and in particular intestinal neuronal dysplasia (IND) have been blamed for certain postoperative complications after surgery for Hirschsprung's disease (HD). We prospectively assessed colon innervation above the aganglionic zone (AZ) before proceeding to pull-through (PT) in order to rule-out IND as a cause of those complications. We first used a two-stage procedure (TSP): Full-thickness biopsies were harvested above the AZ and a colostomy was established during a first stage. Biopsies were assessed postoperatively with conventional acetyl-cholinesterase (AChE) histochemistry and immunohistochemistry for protein gene product 9.5 (PGP 9.5) and antigen CD56 (CD56). Biopsies were repeated after 6 months if IND was found. When the innervation was normal, the PT was performed during a second stage. Since having refined a rapid AChE reaction, we now use a single-stage procedure (SSP). Biopsies are harvested above the AZ and assessed intraoperatively with rapid AChE staining, proceeding to PT during the same stage when the innervation is normal. Four patients underwent the TSP; 3 had normal innervation above the AZ and subsequently underwent PT. In 1 patient serial biopsies revealed IND-like dysganglionosis; 9 months later, the innervation was normal in repeat biopsies and PT was undertaken. Eleven patients underwent the SSP. Biopsies were normal in 9 but showed unclassifiable forms of dysganglionosis in 2. As these changes were not typical for IND, all patients underwent PT in the same stage. Both patients had a poor outcome of bowel function that required a colostomy in 1 and daily saline irrigations in the other. IND was found in repeat biopsies made during the colostomy in the 1st patient and markedly hypertrophied nerves in the submucosa as well as ectopic nerve cells in the lamina propria in the proximal border of the pulled-through colon in the other. All 13 other patients have normal bowel function. The assessment of colon innervation above the AZ before proceeding to PT allows safer surgical treatment of HD. Intraoperative AChE staining is reliable, but due to the size and number of the biopsies, IND might be overlooked. Non classifiable dysganglionosis should thus be taken into account in the diagnosis and follow-up of the patients, as it may be clinically significant.     

肛门直肠畸形动物模型末端直肠肠壁肠神经系统及突触素的胚胎发育的研究

目的 检测蛋白基因产物(protein gene product 9.5,PGP 9.5)及突触素(synaptophysin,SY)在肛门直肠畸形胎鼠直肠肠壁胚胎发育过程中的分布,探讨其可能与排便功能的关系.方法 应用免疫组化、免疫荧光和Western Blot方法检测正常与肛门直肠畸形动物胎鼠直肠末端组织PGP 9.5、SY的表达情况.结果 正常组末端结肠及直肠壁内有神经节细胞,肠壁肌层及黏膜肌层PGP 9.5、SY大量表达;畸形组胎鼠直肠末端壁内的分布均比对照组明显减少,发育延迟,但随着远离肓端.PGP 9.5、SY出现并逐渐增多.正常胎鼠直肠末端壁内中PGP 9.5、SY总蛋白量明显高于畸形组(P<0.05).结论 肠神经系统及突触素的分布异常是肛门直肠畸形动物模型直肠末端壁的重要病理改变.     

横裁岛状包皮皮瓣一期修复尿道下裂的经验

目的总结横裁岛状包皮皮瓣法修复先天性尿道下裂的经验。方法对1999年-2005年我科56例采用横裁岛状包皮皮瓣法进行尿道成形的尿道下裂患儿进行回顾性分析。其中5例加用尿道口为基底的阴囊矩形皮瓣作Duplay尿道成形。结果本组病例均获随访,时间3个月-4年,阴茎外观良好,阴茎下弯矫正满意,排尿通畅。一次手术成功49例,占89．3％;术后尿瘘5例,经第二次手术修补后痊愈,尿道狭窄1例,经尿道扩张后排尿改善。结论横裁岛状包皮皮瓣符合阴茎皮肤的解剖生理特点,设计合理,采用吻合口连续缝合,更加降低了尿瘘的发生率,避免耻骨上造瘘及带来的膀胱损伤。对多数尿道下裂尤其是有阴茎下弯的尿道下裂,采用横裁包皮岛状皮瓣法并灵活加用尿道口基底矩形皮瓣是一个很好的选择。     

Postnatal development of the mucosal plexus in the porcine small and large intestine

Knowledge regarding the foetal and postnatal development of the enteric nervous system is crucial for the understanding of congenital disorders. While lot of information exists regarding the myenteric and submucosal plexuses, the development of the mucosal plexus has not been previously studied. The mucosal innervation seems to play an important role in the local reflex activity of the gut. In this study, we examined the development of enteric mucosal innervation in the pig at various ages of life. Small and large bowel paraffin-embedded specimens were stained with PGP 9.5 and neurofilament protein in three piglets from six age groups (60 and 90 days gestation, newborn, 4 and 12 weeks old, and adult pigs). Small and large bowel demonstrated identical innervation patterns. Myenteric and submucosal plexuses were stained with PGP 9.5 at 60 days gestation. However, the mucosal staining was first noted clearly at the newborn period. By 4 weeks, PGP 9.5 staining was noted in small amounts within the mucosa. Inner proprial and villous fibres were seen ahead in time to the subepithelial fibres. Both inner proprial and villous staining became quiet prominent by 12 weeks of age and remained unchanged into adulthood. However, the subepithelial fibres appear to increase in adulthood. This study demonstrates for the first time that enteric mucosal innervation first appears only at birth. The immaturity of the mucosa generated reflex activity, and secretory functions may have implication in the management of functional intestinal obstruction in the premature infant.     

Is tubularization of the mobilized urethral plate a better alternative to tubularization of an incised urethral plate for hypospadias repair?

Introduction  Trial of a new procedure of hypospadias repair based on the incorporation of the entire available innate urethral tissue for the formation of neo-urethra in patients with hypospadias. Materials and methods  Fifteen consecutive children, nine with distal hypospadias and six with proximal hypospadias (all with severe chordee), whose parents consented to application of a new procedure of hypospadias repair, were the study subjects. This procedure is inspired by Cantwell Ransley procedure for epispadias repair and Snodgras procedure for hypospadias repair. The entire urethral plate was mobilized (i.e., lifted off the corpora) distal to the urethral meatus and was tubularized in two layers; inner urethral skin and outer spongiosal tissue, in Duplay fashion. The repair was reinforced with dartos vascularized flap. The skin incisions on the urethral strip are guided by the disposition of the spongiosal tissue underlying the urethral plate (rather than the conventional U-shaped incision on either side of hypospadiac urethral meatus). In the patients with proximal hypospadias with severe chordee urethral advancement was combined to achieve orthoplasty and a single stage hypospadias repair. The catheter was removed on tenth postoperative day. Results  Even in patients with proximal hypospadias with severe chordee, good single staged repair was achieved without resorting to dorsal plication that would have been necessary had any other methods based on the preservation of urethral plate was performed in these subjects. Therefore, the procedure was found to have an extended applicability to even those patients where tubularized incised urethral plate urethroplsty is not advised. All patients had good results (in 1 year follow-up), except in three early subjects of the series; two of whom developed minor urethrocutaneous fistulae (probably due to frank urinary leak secondary to repeated catheter blockade) and one developed partial glanular wound dehiscence. Conclusions  Though the authors have an initial limited experience with this procedure, the procedure is likely to have a promising future due to its versatility and utilization of the entire urethral tissue.     

尿道下裂患儿包皮组织Shh基因及其受体Ptch1的表达

目的观察尿道下裂患儿包皮组织中Shh基因及其受体Ptch1的表达,探讨其与尿道下裂发病机制间的关系。方法选取2009年6月-2011年7月在本科首次接受手术治疗、除外合并其他疾病(如隐睾)的尿道下裂患儿30例,选择同期单纯包皮环切患儿30例为对照。术中收集尿道下裂患儿的阴茎背侧包皮,液氮速冻后存于-80℃冰箱,采用反转录-PCR技术检测2组患儿包皮组织Shh基因及其受体Ptch1表达水平。应用SPSS 13.0软件进行统计学分析。结果尿道下裂组患儿阴茎背测包皮组织ShhmRNA及Ptch1 mRNA的表达水平较对照组低,且差异均有统计学意义(Pa<0.05),但轻度尿道下裂、中度尿道下裂及重度尿道下裂3个亚组间Shh mRNA及Ptch1 mRNA表达的差异均无统计学意义(Pa>0.05)。结论尿道下裂患儿阴茎背测包皮组织Shh基因及其受体Ptch1表达下降,可能引起尿道生殖褶部位间充质细胞与上皮细胞转化障碍,尿道板腔化受阻,进而导致尿道下裂发生发展。