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Objective:To explore the characteristics of abnormal chromosome karyotype of common external genital malformations in male children.Methods:A retrospective analysis of the clinical data of 2 408 children was made in outpatient or inpatient from January 2012 to December 2017. The mean age was (38±7) months. There were 1115 cases of hypospadias, 189 cases of cryptorchidism, 304 cases of micropenis, 681 cases of concealed penis and 119 cases of disorders of sex development. All children were tested for chromosome 550 band in peripheral blood, and the results of chromosome karyotype were analyzed.Results:A total of 131 cases of abnormal chromosome karyotypes were detected, with a detection rate of 5.4%, including 46 cases of chromosome number abnormalities, 85 cases of structural abnormalities, 64 cases of sex chromosome abnormalities and 67 cases of autosomal abnormalities. The karyotype of chromosome was 46, XY, inv (9) (p12q13) in 28 cases accounting for 21.4%. It was followed by 47, XXY, with 16 cases, accounting for 12.2%. The detection rate of chromosomal abnormalities in children with disorders of sex development was 12.6%(15 cases), hypospadias was 5.5%(61 cases), cryptorchidism was 5.3%(10 cases), micropenis was 4.9%(15 cases), and concealed penis was 4.4%(30 cases).Conclusions:Chromosomal abnormalities are not uncommon in male children with external genital malformations. Chromosome structural abnormalities are more common than quantitative abnormalities, and sex chromosome abnormalities account for a comparable proportion to autosomal abnormalities.
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Male sex differentiation is driven by 2 hormones produced by the fetal testis, testosterone and anti-Müllerian hormone(AMH), responsible for the regression of müllerian ducts in male fetuses. Mutations inactivating AMH or its receptor AMHR2 lead to the persistent müllerian duct syndrome(PMDS) in otherwise normally virilized 46, XY males. Further assessment was carried out when suspicion of PMDS arose from physical examination which revealed that the testis crossed to the contralateral side of the body. Further examination include ultrasound, AMH concentration, karyotype, and gene sequencing. Once PMDS is considered, there is no need to perform the gonads biopsy. The optical surgery methods include one-stage cryptorchidism and hernia curation, and at the same time.Stripping/destroying the mucosa of the retained müllerian remnants to reduce the risk of malignancy and, simultaneously, to prevent the damage to vas deference.
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Objective:To investigate the therapeutic effect of dorsal skin-tightening technique on the correction of mild penile curvature in children with hypospadias.Methods:The clinical characteristics of hypospadias patients (95 cases) with mild penile curvature (<30°) after degloving penis during operation in our hospital from Jan 2017 to Sep 2020 were analyzed retrospectively. Group A: A new technique, reconstructing penile pubic angle at 12 o'clock position of penile dorsal side after degloving and suturing forskin outer and inner plate with tension at 12 o'clock position, was performed in dorsal skin-tightening group (43 cases). Gtoup B: while in dorsal midline tunica albuginea plication group (52 cases), Buck fascia was incised on dorsal midline area, following by tunica albuginea plication with one or two stitches. The patients in Group A were 0.4 to 1.5 years old, and the median age was 1.1 years, urethral orifice were located on distal shaft in 36 cases, proximal in 7 cases.The patients in Group B were 0.5 to 2.6 years old, and the median age was 1.5 years, urethral orifice were located on distal shaft in 41 cases, proximal in 11 cases. The penile ventral curvature degree was recorded during regular follow-up (postoperative 6 and 12 months), as well as postoperative complications.Results:Artificial erection test showed penile curvature was corrected during surgery by measuring with protractor. There was no chordee by measuring with the side photos in all patients during an average of 1.6 years follow-ups. There were 4 case of urethral fistula in Group B and 3 cases in Group A. No cases of urethrostenosis, diverticulum or concealed penis was recorded. The difference of postoperative complications had no statistical significance.Conclusion:Hypospadias with mild penile curvature could be effectively corrected by dorsal skin-tightening technique, which showed a good result of early follow-up.
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Objective@#To explore the feasibility of gender assignment in 46,XY disorders of sex development (DSD) with severe undermasculinisation mainly based on molecular diagnosis.@*Methods@#A retrospective study of 45 patients of 46, XY DSD with severe undermasculinisation were admitted between November 2015 and October 2018 at Children′s Hospital, Zhejiang University School of Medicine. The initial social gender were all female, of whom the external genital manifestations were Prader 0 to 2; the degree of masculinity was scored using external masculinisation score (EMS); the position and development of the gonads were examined by ultrasound, cystoscopy and laparoscopy, also including assessing the development of the Wolffian tube and the Müllerian tube. The level and ratio of testosterone to dihydrotestosterone before and after hCG stimulation were evaluated for the function of Leydig cell and 5α-reductase-2. Gender role scales and sandbox games were used to assess gender role behavior. Genital sensitivity to androgen stimulation was assessed; A panel including 163 genes related to gender development were determined by second-generation sequencing in all 45 patients. Finally, a multidisciplinary team (MDT) makes a gender assignment after a comprehensive analysis mainly based on the molecular etiological diagnosis.@*Results@#Thirty-nine out of 45 patients (87%) had an identifiable genetic etiology, and the remaining 6 (13%) were negative for genetic testing. Forty-five patients had EMS less than or equal to 3 points. Sexual psychological assessment was performed in 39 patients, with male dominance in 24 (62%) and female dominance in 15 (38%). The gender assignment was 23 cases (51%) for male and 19 cases (42%) for female, and 3 cases (7%) were not completely determined.@*Conclusions@#Molecular diagnosis provides a strong basis for appropriate gender assignment of 46, XY DSD children with severe undermasculinisation. Based on molecular diagnosis, each DSD should be analyzed by professional MDT to analyze the clinical symptoms/signs, gonadal development, gonad tumor risk, external genital morphology, sexual psychological assessment, potential fertility opportunities, parental views, Social and cultural factors, etc. make appropriate gender assignment.
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Disorders of sex development (DSD) refer to a group of diseases characterized by abnormal congenital development of chromosomes, gonad or genitals with different pathophysiological changes and clinical manifestations. DSD is more common in neonates and adolescents, and neonates often show genital abnormalities while adolescents show abnormal sexual development during puberty. It is the international consensus that the scope of DSD should include basic clinical evaluation (internal and external genitalia and endocrine hormones), diagnostic confirmation (chromosome, genetic diagnosis), psychological assessment for children and family, treatment (sex assignment, hormone replacement and surgical intervention), potential fertility protection and long-term follow-up, which require the expertise of pediatric endocrinology, pediatric urology, clinical psychology, genetic disciplines, medical images and other related disciplines; that is, individualized management of children with DSD requires an experienced multidisciplinary team (MDT). This article reviews the recent progress on the evaluation, diagnosis and management of disorders of sex development.
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Humanos , Consenso , Transtornos do Desenvolvimento Sexual , Diagnóstico , Terapêutica , Medicina , Desenvolvimento SexualRESUMO
OBJECTIVE@#To assess the value of fetal anteroposterior renal pelvic diameter (APD) in predicting antenatal hydronephrosis requiring surgical treatment after birth.@*METHODS@#A total of 525 cases of antenatal hydronephrosis detected by prenatal ultrasonography (ultrasound index APD ≥ 4 mm in the second trimester and APD ≥ 7 mm in the third trimester) in Zhejiang Prenatal Diagnosis Center from June 2007 to June 2018 were retrospectively analyzed. ROC curve was used to analyze the relationship between these ultrasound indicators and the requirement for surgical treatment after birth.@*RESULTS@#There were 162 cases (30.9%) diagnosed in the second trimester and 363 cases (69.1%) diagnosed in the third trimester; 131 cases were diagnosed pathologically after birth, of which 121 finally underwent surgical treatment. The area under ROC curve (AUC) of APD in middle pregnancy for prediction of requiring surgery 1-12 years after birth was 0.910; the cut-off value of APD was 8.45 mm with a sensitivity of 97.1%, specificity of 70.9%, positive predictive value (PPV) of 47.9%, and negative predictive value (NPV) of 98.9%. The AUC of APD in late pregnancy for prediction of requiring surgery 1-12 years after birth was 0.800; the cut-off value of APD was 12.25 mm with a sensitivity of 66.7%, specificity of 81.2%, PPV of 51.7%, and NPV of 89.1%.@*CONCLUSIONS@#APD in pregnancy can be used to predict whether the fetus with hydronephrosis needs surgical treatment after birth, and the prediction value of APD in the middle pregnancy is better.
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Feminino , Humanos , Gravidez , Feto , Diagnóstico por Imagem , Hidronefrose , Diagnóstico por Imagem , Cirurgia Geral , Pelve Renal , Diagnóstico por Imagem , Estudos Retrospectivos , UltrassonografiaRESUMO
Objective To investigate the effect of a modified preputial flap urethroplasty in twostage treatment of severe hypospadias.Methods The clinical characteristics of the severe hypospadias patients (41 cases) who underwent the staged urethroplasty by using the procedure of preset urethral plate with preputial flap from January 2015 to December 2016 were analyzed retrospectively.We used a modified method (modified group,23 cases):Form the distal urethra with the transected distal urethral plate by using tubularize incised plate (TIP) procedure during the first stage operation,after completely straightened the penis,urethral plate was preseted with transverse preputial flap at the penis shaft.While in the traditional group (18 cases),urethral plate was preseted with preputial flap by using Bracka procedure after transecting urethral plate.The corresponding missing part of urethra underwent urethroplasty at the second stage operation six months later.The patients in the modified group were 9 to 18 months old,and the median age was 13 months;meatus were located at the penis shaft in 10 cases,scrotum in 12 cases,perineum in 1 case.The patients in the traditional group were 9 to 18 months old,and the median age was 13 months;meatus were located at the penis shaft in 6 cases,scrotum in 10 cases,and perineum in 2 cases.There was no statistic difference in age and meatus position between the two groups.Results During the first stage operation,distal urethra was repaired by 13-19 mm,with an average of (14.5 ± 1.3) mm,and the proximal urethra was repaired by 0-6 mm,with an average of (3.1 ± 2.4) mm at the modified group.While at the traditional group,the length of proximal urethra was repaired of 0-9 mm,with an average of (5.6:±:2.9) mm.The urethral length required for reconstruction was measured during the second stage operation,with an average of (26.3:t:4.4) mm in the modified group and (40.5 ± 3.3) mm in the traditional group (P < 0.05).There were 3 case of urethral stricture after removed the catheter,with 2 cases in the modified group and 1 case in the traditional group.Postoperative follow-up was 2 to 3 years,with an average of 2.4 years.There were 3 cases (3/23,13.0%) of urethral fistula in the modified group and 3 cases (3/18,16.7%) in the traditional group.Ascended testis occured in 2 patients in the traditional group after operation.No case of urethrostenosis,diverticulum,chordee or concealed pennis was recorded.There was no significant difference in postoperative complications between the two groups (P > 0.05).Conclusions The modified staged preputial flap method shorten the new forming urethra by making full use of its own materials at the second stage operation,which was helpful to reduce complications.
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Objective To review the clinical characteristics of urethral prolapse in female children and summarize our experience of treatment.Methods A retrospective analysis of the clinical characteristics of 102 patients with urethral prolapse from January 2007 to December 2017 was conducted at The Children's Hospital of Zhejiang University School of Medicine.The age of the patients ranged from 8-156 months with an median of 80 months.The presenting symptoms in the 102 girls were:bleeding in 57 patients (55.9%),mass in 31 patients (30.4%),and dysuria/urinary frequency,urgent and pain in 14 patients (13.4%).In all,58 patients were managed conservatively with Sitz baths as their masses were small,39 underwent prolapse reduction under topical anesthesia and Sitz baths because their mass were large,and 5 patients were treated by excision of the prolapsed urethral mucosa with four-quadrant excisional technique because thrombosed urethral prolapse at first visit.Results A total of 89 patients were cured after conservative treatment (87.3%),8 patients were converted to surgical treatment because frequent recurrence with conservative treatment.No urethral stricture,active hemorrhage and recurrent were found in 13 patients after operation.Conclusions The most common clinical manifestations of urethral prolapse are urethral mass and bleeding.Most patients can be cured by conservative treatment.The patients whose symptoms were severe or suffered from frequent recurrence of urethral prolapse should be managed with surgical excision.
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Objective To investigate the effect of replacing a smaller-size catheter after tubularized incised plate (TIP) urethroplasty on postoperative urethral complications.Methods The data of 116 hypospadias patients underwent TIP urethroplasty performed by the same urologist in our hospital from January 2014 to December 2017 were retrospectively analyzed.The age of patients ranged from 0.5-15.4 years,with the median age of 1.5 years.Meatal location was distal in 47 (39.5%),midshaft in 62 (52.1%) and proximal in 10(8.4%) patients.Unhealthy urethral plate occurred in 49 (42.2%) patients.F8 catheter was used for urethroplasty in 92 (79.3 %) patients,F10 in 17 (14.7%),and F12 in 7 (6.0%).According to the pattern of urinary diversion,patients were divided into two groups.Conventional catheter group in 56 patients (group A):the catheter was chosen in as large size as possible for urethroplasty without tension.Replace a smaller-size catheter group in 60 patients (group B):replace a smaller-size catheter after urethroplasty on the basis of group A.There were no statistically significant differences in age,meatal location and catheter size between the two groups (P > 0.05).Results The mean follow up was 23 months (range 6-66 months).There were 73(62.9%) cases of orifice overflow during indwelling catheterization.There were 5 (4.3%) patients needed further reoperation result from postoperative urethral complications,including 4 cases of fistula and 1 case of meatal stenosis.The process of replacing a smaller-size catheter after urethroplasty in group B was simple and without adverse reactions.There were 15 (26.8%) cases of orifice overflow in group A and 58 (96.7%) in group B.There were statistically significant differences in orifice overflow between the two groups (P < 0.05).There were 5 (8.9%) cases of postoperative urethral complications in group A and 0 case in group B.There were statistically significant differences in postoperative urethral complications (P < 0.05).Conclusions The process of replacing a smaller-size catheter after TIP urethroplasty in was simple and subsequently contributed to less postoperative urethral complications.The results of replacing a smaller-size catheter after TIP urethroplasty were superior to that of no replacing conventionally.
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Objective To explore the change of urine proteins from nephrostomy tube and renal function in patients with very severe hydronephrosis after nephrostomy in order to determine the treatment strategy of either renal preservation or resection.Methods Retrospective analysis of clinical data from March 2015 to March 2017 of 28 cases with congenital unilateral severe hydronephrosis in children's hospital affiliated to Zhejiang University,including 19 boys and 9 girls,with 20 cases on the left and 8 on the right,an average age of 26.6 (0.3 to 122.0) months at the first consultation and 2 cases of urinary biochemical abnormalities.Front to rear diameter for puncture were between 5.7 and 7.6 cm,with an average of 6.7 cm,and the differential renal function (DRF) for the affected kidneys were 6.98 %-9.89 % (average 8.65 %) before puncture.The children underwent percutaneous renal perforation fistula.According to the recovery of renal function after perforation fistula,those who underwent nephrectomy were recruited as a nephrectomy group and the children whose kidney were preserved as kidney preservation group.Comparison 24 hours before and 3 months after puncture was made beteween groups regarding the proportion of urine,pH of the renal pelvis urine,oαl microglobulin (α1-MG),albumin (Alb),β2 microglobulin (β2-MG),immunoglobulin G (IgG),transferrin (TRF),and the recovery of the damaged renal function (direnal function DRF).Results Twenty-eight cases of percutaneous nephrolithotomy were successful without puncture complications,with 10 cases in the nephrectomy group and 18 cases in the renal preservation group.The difference of renal pelvis urine from the affected kidney of the nephrectomy group showed no statistical significance 24 hours before and 3 months after the procedure when comparing the following parameters,including urinary specific gravity (1.006 ± 0.007 vs.1.009 ± 0.005),pH value (7.74 ± 0.41 vs.7.70 ± 0.32),urine creatinine value [(462.20 ± 158.01) μmol/L and (449.20 ± 143.41) μmol/L],αl microglobulin [(14.03 ± 4.360) mg/L vs.(13.84 ± 2.55) mg/L],β2 microglobulin [(0.76 ± 0.28) mg/L vs.(0.65 ±0.14) mg/L],immunoglobulin G [(1 292.20 ± 303.50) mg/L vs.(1 175.33 ± 376.67) mg/L],and kidney function (DRF) [(8.86 ±0.67) % vs.(9.90 ± 1.26)%].While microalbumin [(8 644.40 ± 829.54) mg/L vs.(3 145.10 ± 1 445.02) mg/L] and transferrin [(445.70 ± 46.71) mg/L vs.(214.30 ± 40.13) mg/L,P < 0.05] were significantly increased 3 months after than 24 h before the procedure in nephrostomy group.There were no significant differences of the urine specific gravity 24h before and 3 months after the procedure in the kidney preserved group (1.003 ± 0.003 vs.1.005 ± 0.003,P > 0.05).The creatinine value of 3 months after the procedure was significantly increased than that 24 hours within the procedure [(654.50 ± 154.52tμmol/L) vs.(423.94 ± 172.74) μmol/L],and the urine pH (7.28 ± 0.32 vs.7.91 ± 0.56),α1 microglobulin [(5.85 ± 0.38) mg/L vs.(12.58 ± 3.40) mg/L],microalbumin [(571.50 ± 167.14) mg/L vs.(2 343.28 ± 576.22) mg/L],β2 microglobulin [(0.14 ±0.05)mg/L vs.(0.53 ±0.13) mg/L],immunoglobulin G [(247.38 ±75.29) mg/L vs.(1 026.44 ±245.42)mg/L],and transferrin [(67.64 ± 16.34) mg/L vs.(249.17 ±78.62) mg/L] were significantly decreased 3 months after than 24 hours before the procedure.The renal function was higher 3 months after than 24 hours within the procedure [(8.53 ± 0.80) % vs.(20.50 ± 7.87) %,P < 0.05].Conclusions The increase of creatinine value and the decrease of urine pH,α1 microglobulin,microalbumin,β 2 microglobulin,immunoglobulin G and transferrin in renal pelvis urine suggested that renal function recovered after renal puncture,which is important for next-step plan of treatment strategy.
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Objective To investigate the application of pedicled tunica vaginalis flap cover new urethra in redo and second-stage hypospadias repair.Methods Retrospective analysis was performed in 45 redo hypospadias repair cases,aged from 1 year 3 months to 9 years 4 months (median 5 years 3month).All patients were divided into urethral dehiscence after hypospadias repair (group A) and the second stage surgery of two-stage hypospadias repair (group B) based on medical history.According to the site of dehiscence,the group A were further divided into midshaft urethral dehiscence (A1) and glans and distal urethral dehiscence with urethral opening located on midshaft (A2).After new urethra was completed,the appropriate size of the pedicledtunica vaginalis flap was transferred to cover the new urethra.Results There was no scrotal hematoma occurred in all 45 cases,and somecomplications occurred,including scrotal swelling in 1 case,high-riding testicle in 2 cases,penile clockwise torsion in 1 case,urethrocutaneous fistula in 6 cases.All the 45 cases were followed up for 1 to 4 years,with mean of 1.8 years.One more urethrocutaneous fistula occurred in group A2 and 1 more urethrocutaneous fistula with urethral stricture occurred in group B.There was no penile curvature and urethral diverticulum occurred in all cases.Conclusions Pedicled tunica vaginalis flap could be used as waterproofing layer to cover new urethra in redo hypospadias repair and presented a low incidence rate of postoperative complications.
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Objective To investigate the value of serum inhibin B in evaluating the Sertoli cell function in cryptorchidism children by the study of the correlation between the serum inhibin B levels and cryptorchidism.Methods From August 2006 to August 2011,672 cryptorchidism aged from 6 to 72 months (mean age 27.7 months) were measured of serum inhibin B level by ELISA.Of those 672 boys,505 were unilateral,106 were bilateral and 61 were unilateral vanished testis.Three hundred and eighty-five cases aged 6 to 24 months,109 cases aged 25 to 36 months and 178 cases aged 37 to 72 months.The control group consisted of 335 boys selected from physical examination or circumcision with corresponded age,98 cases aged 6 to 24 months,101 cases aged 25 to 36 months and 136 cases aged 37 to 72 months.The blood samples for serum inhibin B were taken from everyone and,in part of cases,6 months,12 months,18 months postoperatively respectively.The comparision of serum inhibin B levels among the groups was done,and the correlation between serum inhibin B level and testicular volume was analyzed.Results Compared with the control group,the serum inhibin B levels of all groups with unilateral and bilateral cryptorchidism are lower significantly (P < 0.05).No difference was found between the unilateral vanished testis and the control group (P > 0.05),except those aged 6 to 24 months [38.54 pg/ml (25.98,50.24) pg/ml vs.68.04 pg/ml (44.95,115.64) pg/ml,P <0.05].For bilateral cases aged 6 to 24 months,the serum inhibin B level are significantly lower than that of unilateral cases [30.68 pg/ml(17.37,42.43)pg/ml vs.45.91 pg/ml (30.98,69.70) pg/ml,P < 0.05].The serum inhibin B levels were significantly increased 6 months later in those who had undergone orchidopexy [37.34 pg/ml (22.79,64.25) pg/ml vs.30.48 pg/ml (16.56,50.08) pg/ ml,P < 0.05].For boys with unilateral and bilateral cryptorchidism aged 6 to 24 months,inhibin B levels correlated positively with testicular volume (P < 0.05).Conclusions The serum inhibin B level can be used as a reliable marker in evaluating the Sertoli cell function of cryptorchidism,and the orchidopexy had a positive impact on the serum levels of inhibin B.
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Objective To investigate the proper procedure for repairing different urethrocutaneous fistulas after primary urethroplasty for hypospadias.Method There were 101 cases,whose age ranged from 27 months to 171 months (mean 61 months),underwent urethrocutaneous fistula repairing secondary to the primary hypospadiasis urethroplasty from January 2010 to December 2015.The methods of the repairing were chosen mainly on the site and the size of the fistula,which included three types.The coronal fistula with a thin band of tissue stretching between the glans wings was classified as type Ⅰ (n =24).For the rest of the small fistulas at penis coronal ditch and penis body,the small fistula (diameter < 3 mm) was classified as type Ⅱ (n =57) and the large fistula (diameter ≥3 mm) was classified as type Ⅲ(n =30).The urethroplasty was performed in the type Ⅰ cases.The ligation and transfixion was performed in type lⅡ cases.And the tension free repairing with continuous suture was performed in type Ⅲ cases.De-epithelization dartos fascia flap or tunica vaginalis flap covering was performed in all cases.After removing the catheter,all cases were followed-up at least 1 year.The successive operation was termed as no complication,such as urethral stricture,urethral diverticulum and urethrocutaneous fistula.Result Totally 111 fistulas were repaired by the methods described above.The mean followed-up duration was 32 months (ranging 12-48months).Total recurrence of fistula was 11.7% (13/111) in different type fistulas,including 16.7%(4/24) in type Ⅰ,3.5% (2/57) in type Ⅱ and 23.3% (7/30) in type 1Ⅲ.Conclusions Different classification and treatment of urethrocutaneous fistula after urethroplasty by the site and size of fistula can improve the outcome of the operation.It is necessary to cover the tissue tightly to a new urethra during the operation.
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Objective To investigate the proper procedure for repairing different urethrocutaneous fistulas after primary urethroplasty for hypospadias.Method There were 101 cases,whose age ranged from 27 months to 171 months (mean 61 months),underwent urethrocutaneous fistula repairing secondary to the primary hypospadiasis urethroplasty from January 2010 to December 2015.The methods of the repairing were chosen mainly on the site and the size of the fistula,which included three types.The coronal fistula with a thin band of tissue stretching between the glans wings was classified as type Ⅰ (n =24).For the rest of the small fistulas at penis coronal ditch and penis body,the small fistula (diameter < 3 mm) was classified as type Ⅱ (n =57) and the large fistula (diameter ≥3 mm) was classified as type Ⅲ(n =30).The urethroplasty was performed in the type Ⅰ cases.The ligation and transfixion was performed in type lⅡ cases.And the tension free repairing with continuous suture was performed in type Ⅲ cases.De-epithelization dartos fascia flap or tunica vaginalis flap covering was performed in all cases.After removing the catheter,all cases were followed-up at least 1 year.The successive operation was termed as no complication,such as urethral stricture,urethral diverticulum and urethrocutaneous fistula.Result Totally 111 fistulas were repaired by the methods described above.The mean followed-up duration was 32 months (ranging 12-48months).Total recurrence of fistula was 11.7% (13/111) in different type fistulas,including 16.7%(4/24) in type Ⅰ,3.5% (2/57) in type Ⅱ and 23.3% (7/30) in type 1Ⅲ.Conclusions Different classification and treatment of urethrocutaneous fistula after urethroplasty by the site and size of fistula can improve the outcome of the operation.It is necessary to cover the tissue tightly to a new urethra during the operation.