Repair Of Penoscrotal Hypospadias Research Articles

ODP398 A Novel NR5A1 Gene Mutation Causing 46, XY DSD Without Adrenal Insufficiency in an Immigrant Boy from Dominican Republic

Abstract Background The NR5A1 gene encodes steroidogenic factor-1 (SF1), a key transcription factor involved in adrenal and gonadal development. We present a 12-year old boy with a novel, dominant, heterozygous, and probably pathogenic variant of this gene (c.102+1G>C) resulting in incomplete masculinization [46, XY disorder of sex development (DSD)]. Clinical case: This 12-year-old boy, who had immigrated from the Dominican Republic to the United States, was referred at 8 years of age with a diagnosis of congenital adrenal hyperplasia (CAH). He received hCG injections as a neonate and had been prescribed hydrocortisone 7 mg/m 2 /day and fludrocortisone 0.1 mg/day orally for CAH, although compliance was poor. After migrating to the United States, his supply of medications depleted, and he was taken to a local emergency room with fatigue and abdominal pain. Vital signs and electrolyte levels were normal. There was no history of adrenal crisis, testes were not palpable, and inguinal testicles measuring 2.8×1.1 cm on the right and 2.2×1 cm on the left were reported on MRI. When he presented to the pediatric endocrinology clinic, his mother denied history of consanguinity, PCOS, or use of hormones during pregnancy. She reported a history of two spontaneous miscarriages with father of patient and a younger healthy son from another partner. Physical exam showed ambiguous genitalia with underdeveloped scrotum, mild hyperpigmentation, bilateral non-palpable testicles within scrotum, severe penoscrotal hypospadias, stretched penile length (SPL) of 2cm×1.5 cm, and chordee. He had axillary hair and a Tanner stage 2 for pubic hair. A high-dose ACTH stimulation study (250 mcg IV cosyntropin) showed a peak cortisol level at 19.6 μg/dL, peak 17-hydroxyprogesterone of 100 ng/dL, and baseline and peak pregnenolone levels of 6 ng/dL and 43 ng/dL, respectively, with low to normal values of other precursors ruling out CAH. Gonadotropin levels were prepubertal (LH < 0.3 mIU/mL, FSH 2.9 mIU/mL), testosterone <4 ng/dL, and dihydrotestosterone 0.73 ng/dL. Chromosomal studies confirmed 46, XY. With a clinical diagnosis of 46,XY DSD (undervirilized male) and male gender identity, a 2-stage orchiopexy was completed. After a six-month course of monthly 50 mg cypionate testosterone, SPL improved to 4 cm and pubic hair progressed to Tanner stage 3. Surgical repair of penoscrotal hypospadias and chordee were then completed. A 46, XY DSD/complete gonadal dysgenesis DNA panel sequencing identified a novel, dominant, heterozygous, likely pathogenic variant of the NR5A1 gene [c.102+1G>C]. This is a canonical splice donor site of intron 2. Conclusion A novel sequence change in the NR5A1 gene causing a severe phenotype of 46,XY undervirilized male is presented here in a boy originally misdiagnosed with CAH. This case emphasizes the need for complete evaluation with molecular genetic screening for those patients with 46,XY DSDs. Presentation: No date and time listed

Evaluation of Double-Faced Tubularized Preputial Flap versus Duckett's Procedure for Repair of Penoscrotal Hypospadias with Significant Penile Curvature: A Comparative Study.

Background Proximal hypospadias, with significant curvature, is one of the most challenging anomalies. Great diversity and a large number of procedures described over the last 4 decades confirmed the fact that no single procedure has been universally accepted or successful. So, the aim of this study is to evaluate double-faced tubularized preputial flap (DFPF) versus transverse tubularized inner preputial flap (Duckett's procedure) as regards surgical outcomes, complications rate, and cosmetic results for repair of penoscrotal hypospadias with chordee. Patients and Methods. This was a prospective comparative study on 144 children with primary penoscrotal hypospadias with moderate or severe chordee, conducted at New Damietta and Assuit hospitals, Al-Azhar University, from March 2016 to March 2022. The patients were randomly divided into two equal groups; group A (n = 72) underwent DFPF, and group B (n = 72) underwent Duckett's procedure. Results No significant difference was identified as regards demographic data. The follow-up period ranged from 20 to 66 months (mean of 28 months after DFPF and 31 months after Duckett's repair), and the complication rate was 20.1% (29 of 144 children). There were statistically significant differences between the two groups as regards the urethral stricture, penile rotation, and total complication rate. HOSE score was adopted for assessment of surgical outcomes, urine stream, and cosmetic results. Conclusions The DFPF technique is feasible and reliable for one-stage repair of penoscrotal hypospadias with chordee and can be considered as a good option as it ensures better surgical and cosmetic outcomes with lower incidence of complications.

Five years' experience of double faced tubularized preputial flap for penoscrotal hypospadias repair in pediatrics

The success of techniques for proximal hypospadias repair using vascularized preputial flaps has led to their wide application for the last decade. From these techniques, transverse tubularized preputial flaps are particularly attractive. However, high reported rate of complications, including recurrence and urethro-cutaneous fistulae are still challenging the success of these techniques, probably related to vascular insufficiency for the lengthy neourethra. Therefore, many surgeons trying to improve the outcome by utilizing the unique vascular benefits of double faced preputial flap. the present study tries" to evaluate double faced tubularized preputial flap technique for incidence of complications, in comparison with the standard ventral tubularized preputial flap, and to evaluate also surgical outcomes regarding the clinical urinary function and cosmetic results. This was a prospective controlled randomized study, included 160 patients with peno-scrotal hypospadias, conducted at Al-Azhar University hospitals, from January 2014 to January 2019. All patients submitted to one-stage repair. Eighty patients underwent double faced tubularized preputial flap technique (group A) and 80 patients underwent standard ventral preputial tubularized flap technique (group B). Different complications were reported in 12 patients (15%) in group A, compared to 20 patients (25%) in group B. The difference between the complication rates in both groups was statistically significant. 152 of 160 children (95%) had good clinical urinary functional outcomes (short micturition time, good urinary stream without straining or post voiding dribbling) and satisfactory cosmetic results obtained by parents' questioner at follow up visits. This article presents an evaluation of double faced tubularized preputial flap technique in comparison to standard ventral preputial tubularized flap technique (Duckett) in one-stage peno-scrotal hypospadias repair, regarding surgical outcomes, rate of complications, clinical urinary function and satisfactory cosmetic results. Double faced tubularized flap repair is a good option to reconstruct penoscrotal hypospadias after correction of chordee which have fewer complications and also shows that transferring the tube with its skin appears to achieve better ventral skin covering. Double faced tubularized preputial flap technique seems to be a superior option, that provide better vascular supply with better results when compared to standard ventral preputial tubularized flap in one-stage peno-scrotal hypospadias repair, with reported fewer complications, better urinary function and good cosmetic results.

Long-term functional outcomes after penoscrotal hypospadias repair: A retrospective comparative study of proximal TIP, Onlay, and Duckett

A variety of techniques are available for proximal hypospadias repair. Onlay, proximal tubularized incised plate (TIP), and Duckett are among the popular choices because they can be performed as a one-step procedure. However, the decision to select a procedure often comes down to the surgeon's preference rather than that supported by evidence-based data. In particular, there is a paucity of literature on the long-term urinary outcomes after proximal hypospadias repair. The aim of this study was to evaluate the evolution of long-term uroflowmetry parameters after proximal hypospadias surgery over a long-term follow-up including the adolescent period. Files from patients who underwent primary proximal hypospadias repair at our institution between 1997 and 2001 were reviewed. Only patients with documented serial postoperative uroflowmetry profiles at follow-up visits were included. Comparison between surgeries (pTIP vs. Onlay vs. Duckett) was performed according to the following postoperative time interval endpoints: 0-1 years, 1-2, >2-4, >4-6, >6-10, >10-12, and >12 years. Maximal urinary flow rate (Qmax) in relation to voiding volume (VV) adjusted for age or body surface area (BSA) were also evaluated in comparison to normal children using established Miskolc nomograms and compared between surgery techniques. Fifty-two patients met the inclusion criteria with a median follow-up of 10 years: 25 (59.6%) TIP, 18 (34/6%) Onlay, and nine (17.3%) Duckett. Overall, Qmax increased progressively according to time and age in particular during the period covering adolescence. At follow-up 12 years postoperatively, median Qmax values were 18.5mL/second, 13.8mL/second and 16.6mL/second for TIP, Onlay, and Duckett, respectively, with no significant differenced detected between groups (p=0.5) see figure). Compared with normal children when adjusted for voiding volume and BSA, the proportion of obstructive uroflowmetry patterns defined as Qmax<25th percentile of nomograms was more prevalent in patients aged 3-7 years old at 83.8% but decreased to less than 21.2% in patients aged >13 years for all procedures (see figure). These results are consistent with previous work showing frequently reduced Qmax after hypospadias surgery with great potential for improvement at puberty. These results suggest that the obstructive urinary flow pattern observed in patients early on is a frequent finding after proximal hypospadias surgery. However, because of the remarkable improvement observed at puberty a watchful waiting approach is proposed in order to avoid unnecessary intervention.

Proximal hypospadias in a male patient with 5?-reductase deficiency: A case reports

Hypospadias is a congenital disorder of male external genital. The newborn showed penoscrotal hypospadias with chordee and microphallus. Endocrine data and a normal male karyotype were suggestive of 5? -reductase deficiency. Penoscrotal hypospadias repair of the patient was made .

Tubularized Incised Plate Repair for Penoscrotal Hypospadias: Role of Surgeon's Experience

To give a retrospective analysis of factors affecting outcome of tubularized incised plate (TIP) repair for penoscrotal hypospadias. Data of all patients who underwent TIP repair for penoscrotal hypospadias by a single surgeon were retrieved. Follow-up was carried out every 3 months within the first year and annually thereafter. Repairs were divided into 2 groups: Group 1 included surgeries performed in the first 2 years after fellowship training, and group 2 included repairs performed afterward. Chi-square test was used for statistical analysis. Statistical significance was defined as P<.05. Data for 90 patients were retrieved for july 2001 through march 2009: Group 1 included 20 patients and group 2 included 70. The neourethra was covered with spongioplasty in 25 and dartos flap in 65. The overall success rate was 86%. Group 2 patients showed a statistically significant higher success rate of 91% compared with only 65% for group 1. Use of dartos flap was associated with statistically significant higher success (92%) compared with coverage of the neourethra with spongioplasty (68%). In group 1, use of dartos flap was associated with statistically significant better success (82% vs 33%). In group 2 patients, use of dartos flap showed no statistically better success (94% vs 81%). TIP is a valid procedure for repair of penoscrotal hypospadias with chordee<30 degrees. The overall success (86%) is satisfactory. Surgeon's experience is the pillar for better success.

Tubularized Incised Plate (Tip) Repair for Penoscrotal Hypospadias: Critical Analysis of Results

Purpose This is a retrospective analysis of factors affecting outcome of TIP repair for penoscrotal Hypospadias. Material and Methods Data of all patients who underwent TIP repair for penoscrotal Hypospadias by a single surgeon (A.T.H) were retrieved. Significant chordee (> 30 degree) was a contraindication for TIP. Chordee was corrected after extended bulbar dissection of the urethra with dorsal midline tunica albuginea placation. The neourethra was sutured with 7/0 or 6/0 continuous subepithelial polyglycate suture. All repairs were stented for 7-10 days. Follow-up was carried out 3-monthly in the first year and annually thereafter. Repairs were divided into 2 groups; group 1 included those performed in the first 2 years after fellowship training, and group 2 included repairs performed afterwards. Success was defined as orthotopic meatus with forward adequate stream with no stenosis, fistula or diverticulum. Chi-sqaure test was used for univariate analysis and binary logistic regression was used for multivariate analysis. Statistical significance was defined as p value Results Data for 90 patients were retrieved (from July 2001 to March 2009). Most patients (77%) were older than 2 years at surgery. Group 1 patients were 20 and group 2 were 70. The neourethra was covered with spongioplasty in 25 and dartos flap in 65. The overall success was 86% (65% fro group 1 and 91% for group 2). On both univariate and multivariate analysis, more experience and coverage with dartos flap were associated with statistically better outcome. Age at surgery had no statistical impact on outcome. Conclusions TIP is a valid procedure for repair of penoscrotal Hypospadias with mild chordee . The overall outcome (86%) is satisfactory. Coverage of the neourethra with a dartos flap and experience are the pillars of statistically significant better success.

Small Intestine Submucosa as a Corporal Body Graft in the Repair of Severe Chordee

We describe our experience with single and 4-layer small intestine submucosa in the repair of proximal hypospadias and severe chordee. Between 2000 and 2004, 15 boys with proximal hypospadias and/or severe ventral chordee underwent SIS grafting to correct the curvature. Single layer and 4-layer small intestine submucosa were used for corporal grafting. Reassessment was performed by artificial erection at the time of the 2nd-stage reconstruction or at follow-up visit. 1st-stage chordee repair with corporal body incision and graft coverage was performed on 15 patients between June 2000 and March 2004. Single layer SIS was used in 6 cases and 4-layer was used in 9 cases. Twelve of the 15 boys underwent a planned 2nd-stage urethroplasty. Median age at 1st-stage repair was 12 months. A 15-month-old boy underwent single stage chordee correction and penoscrotal hypospadias repair. Two boys without hypospadias underwent chordee correction with SIS. There were no complications related to the use of SIS for chordee repair. Median age of the 12 boys at 2nd-stage hypospadias repair was 24 months. At the time of the 2nd-stage procedures, the graft site did not show more significant scarring than has been our experience in 2-stage procedures performed without SIS. No patients had recurrence of chordee with follow up ranging from 2 to 75 months. Our outcomes suggest that small intestine submucosa is safe and effective for corporal body grafting in the correction of severe chordee, especially in the setting of a multistage hypospadias and chordee repair.

SHOULD WE STILL USE ONLAY ISLAND FLAP FOR PENOSCROTAL HYPOSPADIAS REPAIR?

You have accessJournal of Urology1 Apr 2008SHOULD WE STILL USE ONLAY ISLAND FLAP FOR PENOSCROTAL HYPOSPADIAS REPAIR? Luis H Braga, Armando J Lorenzo, Yaser El-Hout, Walid A Farhat, Darius J Bagli, Antoine E Khoury, and Joao L Pippi Salle Luis H BragaLuis H Braga More articles by this author , Armando J LorenzoArmando J Lorenzo More articles by this author , Yaser El-HoutYaser El-Hout More articles by this author , Walid A FarhatWalid A Farhat More articles by this author , Darius J BagliDarius J Bagli More articles by this author , Antoine E KhouryAntoine E Khoury More articles by this author , and Joao L Pippi SalleJoao L Pippi Salle More articles by this author View All Author Informationhttps://doi.org/10.1016/S0022-5347(08)61196-9AboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissionsReprints ShareFacebookLinked InTwitterEmail "SHOULD WE STILL USE ONLAY ISLAND FLAP FOR PENOSCROTAL HYPOSPADIAS REPAIR?." The Journal of Urology, 179(4S), pp. 408–409 © 2008 by American Urological AssociationFiguresReferencesRelatedDetailsCited byWright I, Cole E, Farrokhyar F, Pemberton J, Lorenzo A and Braga L (2018) Effect of Preoperative Hormonal Stimulation on Postoperative Complication Rates After Proximal Hypospadias Repair: A Systematic ReviewJournal of Urology, VOL. 190, NO. 2, (652-660), Online publication date: 1-Aug-2013. Volume 179Issue 4SApril 2008Page: 408-409 Advertisement Copyright & Permissions© 2008 by American Urological AssociationMetricsAuthor Information Luis H Braga More articles by this author Armando J Lorenzo More articles by this author Yaser El-Hout More articles by this author Walid A Farhat More articles by this author Darius J Bagli More articles by this author Antoine E Khoury More articles by this author Joao L Pippi Salle More articles by this author Expand All Advertisement PDF downloadLoading ...

RADICAL BULBAR DISSECTION TO CORRECT SEVERE CHORDEE AND PROXIMAL HYPOSPADIAS

We describe a technique of proximal hypospadias correction that involves freeing the proximal normal bulbar urethra from perineal attachments to lengthen the ventral penis and decrease chordee. Correction was performed in 9 patients with a mean age of 11.5 months who had proximal hypospadias and severe chordee that was perineal in 2, mid scrotal in 6 and penoscrotal in 1. After the penis was degloved the bulbar urethra was detethered to or beyond the perineal body without lifting the urethra from the corpora cavernosa. Any remaining penile chordee was corrected and the urethral plate was transected only when chordee persisted. When the urethral plate was intact and the penis straight, tubularized incised plate urethroplasty was done to correct hypospadias in 1 stage. Otherwise 2-stage repair was performed. Using this maneuver penile straightening was achieved in 2 of the 9 patients, resulting in a glanular urethral or penoscrotal meatus. Dorsal plication sutures required in 4 cases resulted in a mid shaft and penoscrotal meatus in 1 and 3, respectively. Residual chordee in the remaining 3 patients necessitated division of the urethral plate and 2-stage repair despite aggressive mobilization of the proximal urethra. Simultaneous tubularized incised plate urethroplasty was then performed in the 4 penoscrotal and 1 mid shaft meatus. All 6 patients who underwent a successful 1-stage procedure have excellent cosmetic results, while 1 required meatotomy. No fistula or chordee was present at a mean of 13.8 months of followup (range 3.9 to 27.1). This safe, rapid technique may compensate for significant penile tethering and chordee in a subpopulation of patients with proximal hypospadias, such as 6 of the 9 in our study. It also allows successful tubularized incised plate urethroplasty to be done simultaneously.

HISTOLOGY OF THE URETHRAL PLATE: IMPLICATIONS FOR HYPOSPADIAS REPAIR

No AccessJournal of UrologyHypospadias1 Sep 2000HISTOLOGY OF THE URETHRAL PLATE: IMPLICATIONS FOR HYPOSPADIAS REPAIR WARREN SNODGRASS, KATHLEEN PATTERSON, J. CHADWICK PLAIRE, RICHARD GRADY, and MICHAEL E. MITCHELL WARREN SNODGRASSWARREN SNODGRASS More articles by this author , KATHLEEN PATTERSONKATHLEEN PATTERSON More articles by this author , J. CHADWICK PLAIREJ. CHADWICK PLAIRE More articles by this author , RICHARD GRADYRICHARD GRADY More articles by this author , and MICHAEL E. MITCHELLMICHAEL E. MITCHELL More articles by this author View All Author Informationhttps://doi.org/10.1016/S0022-5347(05)67233-3AboutFull TextPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissionsReprints ShareFacebookLinked InTwitterEmail Abstract Purpose: We define the histology of the urethral plate in boys with hypospadias. Materials and Methods: Subepithelial biopsies of the urethral plate were obtained in 17 boys, including 13 with distal and 4 with penoscrotal hypospadias. Ventral penile curvature was noted in 5 cases. Specimens were evaluated by 7 light microscopy after hematoxylin and eosin staining. Results: All biopsies demonstrated well vascularized connective tissue comprised of smooth muscle and collagen. There was no evidence of fibrous bands or dysplastic tissue. Conclusions: The urethral plate consists of epithelium overlying connective tissue. We found no histological evidence of fibrous cords historically considered responsible for chordee. References 1 : The correction of hypospadias: a review. Urol Surv1958; 8: 2. Google Scholar 2 : Basic instructions for hypospadias repair. In: . Philadelphia: W. B. Saunders Co.1994: 551. Google Scholar 3 : History of external genital surgery. In: . Boston: Little, Brown and Co.1973: 3. Google Scholar 4 : Controversies in hypospadias surgery: the urethral plate. Dial Pedi Urol1996; vol. 19. No. 8. Google Scholar 5 : A critique on the repair of hypospadias. Surgery1952; 31: 885. Google Scholar 6 : Changing concepts of hypospadias curvature lead to more onlay island flap procedures. J Urol1994; 151: 191. Link, Google Scholar 7 : Microscopic studies of curvature-causing structures in hypospadias. Scand J Plast Reconstr Surg1980; 14: 249. Google Scholar 8 : The congenital anomalies of the lower urinary tract. Br J Urol1956; 28: 118. Google Scholar 9 : Etiologic considerations in penoscrotal hypospadias repair. J Urol1978; 120: 229. Link, Google Scholar 10 : Anatomical studies of hypospadias. J Urol1998; 160: 1108. Link, Google Scholar 11 : The origin and fate of the urethral plate in man. J Anat1954; 88: 413. Google Scholar 12 : Embryogenesis of chordee. J Urol1975; 114: 769. Link, Google Scholar From the Division of Pediatric Urology, Children’s Medical Center, Dallas, Texas, and Department of Pediatric Pathology and Division of Pediatric Urology, Seattle Children’s Hospital and Regional Medical Center, Seattle, Washington© 2000 by American Urological Association, Inc.FiguresReferencesRelatedDetailsCited BySpinoit A, Van Praet C, Groen L, Van Laecke E, Praet M and Hoebeke P (2018) Congenital Penile Pathology is Associated with Abnormal Development of the Dartos Muscle: A Prospective Study of Primary Penile Surgery at a Tertiary Referral CenterJournal of Urology, VOL. 193, NO. 5, (1620-1624), Online publication date: 1-May-2015.Snodgrass W and Prieto J (2009) Straightening Ventral Curvature While Preserving the Urethral Plate in Proximal Hypospadias RepairJournal of Urology, VOL. 182, NO. 4S, (1720-1725), Online publication date: 1-Oct-2009.Snodgrass W (2018) A Farewell to ChordeeJournal of Urology, VOL. 178, NO. 3, (753-754), Online publication date: 1-Sep-2007.XU J, LI S, LI Y, LI Q, LIU L and WANG Y (2018) LENGTHENING URETHRAL PLATE WITH INNER PREPUTIAL SKIN GRAFTS: A MODIFICATION OF THE ONLAY TECHNIQUEJournal of Urology, VOL. 173, NO. 1, (202-203), Online publication date: 1-Jan-2005.JAYANTHI V (2018) The Modified Snodgrass Hypospadias Repair: Reducing the Risk of Fistula and Meatal StenosisJournal of Urology, VOL. 170, NO. 4 Part 2, (1603-1605), Online publication date: 1-Oct-2003.Palmer L, Palmer J, Franco I, Friedman S, Kolligian M, Gill B and Levitt S (2018) The “Long Snodgrass”: Applying the Tubularized Incised Plate Urethroplasty to Penoscrotal Hypospadias in 1-stage Or 2-stage RepairsJournal of Urology, VOL. 168, NO. 4 Part 2, (1748-1750), Online publication date: 1-Oct-2002.VELA D, MÉNDEZ R, SOMOZA M, LIRAS J and PAIS E (2018) LENGTHENING THE URETHRAL PLATE WITH A DOUBLE FLAP TECHNIQUE: A NEW PROCEDURE FOR CORRECTION OF PRIMARY HYPOSPADIAS WITH CHORDEEJournal of Urology, VOL. 167, NO. 1, (306-308), Online publication date: 1-Jan-2002. Volume 164Issue 3 Part 2September 2000Page: 988-990 Advertisement Copyright & Permissions© 2000 by American Urological Association, Inc.KeywordsurethrahypospadiashistologypenisMetricsAuthor Information WARREN SNODGRASS More articles by this author KATHLEEN PATTERSON More articles by this author J. CHADWICK PLAIRE More articles by this author RICHARD GRADY More articles by this author MICHAEL E. MITCHELL More articles by this author Expand All Advertisement PDF DownloadLoading ...

A new one-stage technique for repair of penoscrotal hypospadias

A new one-stage technique for repair of penoscrotal hypospadias