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Hypospadias is one of the most common penile congenital anomalies, which often requires a surgical approach. After the hypospadias is repaired, urethral fistula can occur in around 20% of patients. In this study, we used platelet-rich plasma (PRP) to reduce the urethral fistula and other post-operative complications after hypospadias repair. Only patients with primary mid-penile hypospadias were included study. Patients with forms other than mid-penile hypospadias and cases with previous hypospadias surgery were excluded from the study. A total of 40 hypospadias patients were included in this study. These patients were divided into groups A and B with 20 patients in each group. Hypospadias repair was performed with the Snodgrass TIPU technique on both groups. PRP was used with group A, and PRP was not use with group B. These two groups were compared in terms of early and long-term post-operative complications. Both early and long-term post-operative UCF, urethral stenosis and post-operative infection rates were lower in the group using PRP, group A. PRP has the potential to prevent post-operative complications occurring after hypospadias repair, particularly post-operative infection.

Extended Summary Background Preputioplasty as a part of hypospadias repair restores the normal appearance of phallus, which is especially important in distal and mid penile hypospadias. However possibility of its inherent complications such as iatrogenic phimosis or preputial breakdown are the cause of controversy and reluctance regarding this procedure.This study evaluates the results of preputial reconstruction with TIP urethroplasty in distal and mid penile hypospadias repair and analyses if preputioplasty may be offered to these patients. Materials & methods In this prospective observational study, 48 cases of distal and mid penile hypospadias underwent TIP urethroplasty and preputioplasty and results were assessed at 2 weeks, 3 months and 6 months. Major complications included preputial dehiscence, tight prepuce (iatrogenic phimosis) and minor complications included ventral tethering, persistent dorsal whorls and redundant prepuce. Data was analysed with Microsoft Excel spreadsheet where descriptive statistics were obtained. Results Preputioplasty was performed in 48 children with a mean age of 5.1 years. Preputioplasty dehiscence was seen in three (6%) patients, which gave an appearance of irregular prepuce on 6 m follow up. Two patients (4%) were confirmed to have preputial tightness at 3 months but this resolved conservatively in one patient and only one patient (2%) required circumcision for a tight prepuce. Minor complications included ventral tethering, persistence of dorsal whorls and redundant prepuce. Ventral tethering was present in 3 patients (6.25%). Redundant prepuce was observed in 2 patients (4.16%). Additionally, unsightly dorsal whorls were found to be persistent in 2 children (4.16%). None of these patients opted for circumcision. The rest of the children had a cosmetically and functionally normal prepuce. Two patients (4%) developed urethrocutaneous fistula at 3 months’ follow-up. Conclusion Preputial reconstruction is feasible with a good cosmetic outcome and minimal complications in patients of distal and mid penile hypospadias undergoing TIP urethroplasty. Mild preputial tightness evolves over time and resolves with conservative measures. In patients with very prominent dorsal whorls and underlying bulky tissues the preputioplasty does not appear to be of satisfactory cosmesis. To help the patient and parents take a well informed decision, it would be useful to explain all possible major and minor foreskin complications, and their rectification. Summary table Major complications • Preputial dehiscence, irregular preputial hood 3 (6.25%) • Preputial tightness requiring circumcision 1 (2.08%) Minor complications • Ventral tethering 3/48 (6.25%) • Redundant prepuce 2/48 (4.16%) • Persistent dorsal whorls 2/48 (4.16%) Urethral complications •Urethrocutaneous fistula 2 (4.16%)

Two siblings, one male and one female, ages 6 and 13 yr old, have similar clinical features of global developmental delay, multiple congenital anomalies affecting the cardiac, genitourinary, and skeletal systems, and abnormal eye movements. Whole-genome sequencing revealed a homozygous splice variant (NM_014462.3:c.231+4A>C) in LSM1 that segregated with the phenotype in the family. LSM1 has a role in pre-mRNA splicing and degradation. Expression studies revealed absence of expression of the canonical isoform in the affected individuals. The Lsm1 knockout mice have a partially overlapping phenotype that affects the brain, heart, and eye. To our knowledge, LSM1 has not been associated with any human disorder; however, the tissue expression pattern, gene constraint, and the similarity of the phenotype in our patients and the knockout mice models suggest it has a role in the development of multiple organ systems in humans.

Genetic studies grounded on monogenic paradigms have accelerated both gene discovery and molecular diagnosis. At the same time, complex genomic rearrangements are also appreciated as potent drivers of disease pathology. Here, we report two male siblings with a dysmorphic face, ambiguous genitalia, intellectual disability, and speech delay. Through quad-based whole-exome sequencing and concomitant molecular cytogenetic testing, we identified two copy-number variants (CNVs) in both affected individuals likely arising from a balanced translocation: a 13.5-Mb duplication on Chromosome 16 (16q23.1 → 16qter) and a 7.7-Mb deletion on Chromosome 5 (5p15.31 → 5pter), as well as a hemizygous missense variant in CXorf36 (also known as DIA1R). The 5p terminal deletion has been associated previously with speech delay, whereas craniofacial dysmorphia and genital/urinary anomalies have been reported in patients with a terminal duplication of 16q. However, dosage changes in either genomic region alone could not account for the overall clinical presentation in our family; functional testing of CXorf36 in zebrafish did not induce defects in neurogenesis or the craniofacial skeleton. Notably, literature and database analysis revealed a similar dosage disruption in two siblings with extensive phenotypic overlap with our patients. Taken together, our data suggest that dosage perturbation of genes within the two chromosomal regions likely drives the syndromic manifestations of our patients and highlight how multiple genetic lesions can contribute to complex clinical pathologies.

Background: Hypospadias is common congenital condition. First attempted hypospadias surgery was done during first century A.D. Since then more than 300 techniques have been explained in the surgery for Hypospadias. The goal of surgery is focused on functional and cosmetic outcomes. In 1994 Snodgrass popularized the technique of urethral plate incision, tubularization and secondary dorsal healing for hypospadias repair. Aim of the study was to evaluate the short term outcomes of Snodgrass urethroplasty.Methods: This was a retrospective study conducted by the department of Pediatric Surgery, Kempegowda Institute of medical sciences (KIMS) hospital, Bangalore from 2014 to 2017. Children with mid penile and distal hypospadias who had undergone Snodgrass urethroplasty were enrolled in the study. Children with previous surgery were excluded. The demographic data, duration of surgery, post operative requirement of anticholinergics, duration of catheterization and post operative stay were tabulated. Children were followed up for duration of 6 months to 3 years. Post operative complications were tabulated. Results: 40 children were included in the study. Age ranges of children were between 9 months to 14 years. In most of the children hypospadias was diagnosed at birth. The mean duration of surgery was 97.25 minutes. The mean duration of hospitalization was12.2 day. The overall complications rate was 20%. The most common complication was urethrocutaneous fistula. Out of the 40 children included in the study 4(10%) children required resurgery (urethrocutaneous fistula closure).Conclusions: Snodgrass urethroplasty is a simple and effective technique. It is easy to learn and can be applied as a single stage procedure. The most common complications are urethrocutaneous fistula and meatal stenosis.

Background One in 4500 children is born with ambiguous genitalia, milder phenotypes occur in one in 300 newborns. Conventional time-consuming hormonal and genetic work-up provides a genetic diagnosis in around 20-40% of 46,XY cases with ambiguous genitalia. All others remain without a definitive diagnosis. The investigation of milder cases, as suggested by recent reports remains controversial. Methods Integrated clinical, hormonal and genetic screening was performed in a sequential series of 46, XY children, sex-assigned male, who were referred to our pediatric endocrine service for atypical genitalia (2007–2013). Results A consecutive cohort of undervirilized 46,XY children with external masculinization score (EMS) 2–12, was extensively investigated. In four patients, a clinical diagnosis of Kallmann syndrome or Mowat-Wilson syndrome was made and genetically supported in 2/3 and 1/1 cases respectively. Hormonal data were suggestive of a (dihydro)testosterone biosynthesis disorder in four cases, however no HSD17B3 or SRD5A2 mutations were found. Array-CGH revealed a causal structural variation in 2/6 syndromic patients. In addition, three novel NR5A1 mutations were found in non-syndromic patients. Interestingly, one mutation was present in a fertile male, underlining the inter- and intrafamilial phenotypic variability of NR5A1-associated phenotypes. No AR, SRY or WT1 mutations were identified. Conclusion Overall, a genetic diagnosis could be established in 19% of non-syndromic and 33% of syndromic cases. There is no difference in diagnostic yield between patients with more or less pronounced phenotypes, as expressed by the external masculinisation score (EMS). The clinical utility of array-CGH is high in syndromic cases. Finally, a sequential gene-by-gene approach is time-consuming, expensive and inefficient. Given the low yield and high expense of Sanger sequencing, we anticipate that massively parallel sequencing of gene panels and whole exome sequencing hold promise for genetic diagnosis of 46,XY DSD boys with an undervirilized phenotype. Electronic supplementary material The online version of this article (doi:10.1186/s13023-014-0209-2) contains supplementary material, which is available to authorized users.

Objectives and Methods : 252 hypospadias operations were performed at our department from 1985 to 1990. We conducted 173 primary repairs and 79 reoperations. In distal hypospadias (n = 98), we used the meatoplasty and granuloplasty procedure as well as the Mathieu technique. In penile hypospadias (n = 40), a tubularized dorsal preputial flap (Duckett procedure) was performed. Proximal and scrotal hypospadias (n = 23) were operated using a combination of Duckett's tube and the Thiersch-Duplay procedure. Results : We saw a 15% complication rate in distal hypospadias, 36% in penile hypospadias, and 27% in proximal hypospadias. Conclusion : The Mathieu technique gave a complication rate of 35.5% in our hands, and so it was replaced by the island onlay flap technique as described by Duckett.

Between 1983 and 1993, 41 patients underwent a first-stage Belt-Fuqua operation for penile hypospadias repair and 39 completed the second stage. Minor complications were observed after the first stage. The primary success rate following the second stage was 82%. Major complications noted after the second stage consisted mainly of fistula formation. The surgical technique is described and alternative methods are discussed.

Objective: The objective of this study was to describe a modification for skin closure combined with tubularized incised plate (TIP) urethroplasty in the repair of proximal and mid-penile hypospadias.Patients and methods: The study included 47 patients with nondistal hypospadias who underwent a primary TIP procedure from September 2007 to May 2010. Meatal position was mid-shaft ( n = 20), penoscrotal ( n = 20), and scrotal ( n = 7). The patients in the study were divided into two groups according to a modification in the technique of skin closure, which involved incising the prepuce vertically into two halves, then harvesting the dartos flap for covering the repair from one half, leaving the other preputial half to reconstruct the ventral skin without compromising its blood supply.Results: In the standard procedure ( n = 19 patients), complications included glanular dehiscence (10.5%), glanular fistula (5%), urethrocutaneous fistula (10.5%), and skin complications (21%). In the modified procedure ( n = 28 patients), complications included glanular dehiscence (7%) and glanular fistula (3.6%), but no skin complications or urethrocutaneous fistulae occurred.Conclusion: The modified Byars’ flaps is a useful alternative for skin closure during proximal and mid-shaft TIP urethroplasty, with fewer complications and acceptable cosmetic outcome.

Introduction: This study was designed to evaluate the supportive role of spongioplasty during tubularized incised plate (TIP) urethroplasty repair of hypospadias. Methods: All non–toilet trained children who underwent TIP repair for primary hypospadias by 1 surgeon over a 30-month period were included in our study. The divergent spongiosa was mobilized off the corpora cavernosa and was rotated toward the midline to wrap the neourethra. A dartos flap was used to cover the neourethra. The neourethra was calibrated immediately after surgery in all patients. A urethral stent was left in place only when difficult calibration was encountered. Complications and cosmetic appearance were documented at last follow-up. Results: Thirty-two consecutive patients with a mean age of 18 (standard deviation [SD] 6) months were included in the study. The defects were distal and mid-shaft in 26 patients (81.3%) and proximal-shaft in 6 (18.8%). No intraoperative catheterization difficulties were encountered and all repairs were nonstented. Antibiotics and anticholinergics were not required. Mean follow-up was 9 (SD 6) months. Urinary extravasation developed in 1 patient (3.1%) on the second postoperative day. A urethral catheter was easily inserted and left indwelling for 5 days. One patient presented 6 days postoperatively with suspected voiding difficulty. Urethral calibration was easily performed excluding any mechanical obstruction. There were no urinary fistulae and reoperation was not required. An excellent cosmetic appearance was achieved in all patients. Conclusion: TIP urethroplasty is a versatile operation that can be performed in almost all cases of penile hypospadias. A nonstented technique for hypospadias repair simplifies postoperative care and obviates the need for antibiotics and anticholinergics. We believe that spongioplasty provides good support to the neourethra and the hypoplastic distal urethra that may facilitate catheterization in the immediate and early postoperative periods, if required. Future controlled study is warranted to further evaluate the role of spongioplasty.

Hypospadias (a urethral orifice located along the ventral side of the penis) and cryptorchidism (failure of the testes to descend into the scrotal sacs) are the 2 most common congenital malformations in males, affecting 0.3%–0.7% and 2%–4%, respectively, at birth. To study the association of CAG/GGN trinucleotide repeats in the androgen receptor gene with cryptorchidism and hypospadias in an Iranian population, we performed a case-control study of 76 cryptorchid and 92 hypospadiac (divided into subgroups of glanular, penile, and penoscrotal hypospadias) Iranian males. The length of the CAG/GGN repeat segment was evaluated by using polymerase chain reaction (PCR) sequencing in exon 1 and PCR—single-strand conformation polymorphism (PCR-SSCP) in exons 2–8. There were no significant differences in CAG lengths between the cases and controls, but GGN numbers were found to be significantly higher (median, 24 vs 22) among both subjects with penile hypospadias (P = .018) and those with a history of cryptorchidism (P = .001) compared with controls. In addition, the GGN numbers among subjects with penile hypospadias were significantly different compared with the 2 other subgroups of hypospadias (P = .001). We were able to identify 12 different CAG alleles and 8 different GGN alleles in the cryptorchid group. Although further studies are needed to elucidate the possible role of specific CAG/GGC combinations as a susceptible factor, our data suggested the possible association between polyglycin tract polymorphism in androgen receptor gene and cryptorchidism.

Purpose: We report our experience using the preputial island flap technique (Scuderi procedure) to correct penile hypospadias.Materials and Methods: A total of 152 patients underwent repair between 1982 and 2004. Nine patients (6%) had proximal hypospadias, 46 (30%) had mid penile hypospadias and 97 (64%) had distal hypospadias. A total of 146 patients (96%) had not previously undergone surgical treatment, while 6 (4%) had undergone surgery.Results: After the primary repair 3 patients had fistula and 10 had mild stenosis. The immediate success rate was 91.4% (139 of 152 patients), which later increased to 98% (149 of 152) after nonsurgical treatment of the stenoses.Conclusions: Preputial island flap urethroplasty is a versatile operation that corrects hypospadias and is particularly indicated if there is associated severe penile curvature, with a low complication rate and superior cosmetic results.

Although sufficient androgen receptor (AR) function is crucial for normal male sexual differentiation, single-point mutations in the AR gene are infrequent in the two most common male congenital malformations, hypospadias and cryptorchidism. Because polymorphic CAG and GGN segments regulate AR function, we investigated whether there was any association between these polymorphisms and mentioned malformations. Genotyping was performed by direct sequencing of DNA from patients diagnosed with hypospadias (n 51) and cryptorchidism (n 23) and controls (n 210). The subjects with hypospadias were divided into subgroups of glanular, penile, and penoscrotal hypospadias. Median GGN lengths were significantly higher (24 vs. 23) among both subjects with cryptorchidism, compared with controls (P 0.001), and those with penile hypospadias, compared with either controls (P 0.003) or glanular and penoscrotal hypospadias combined (P 0.018). The frequency of cases with GGN 24 or more vs. GGN 23, differed significantly among those with cryptorchidism (65/35%), compared with controls (31/54%) (P 0.012), and among subjects with penile hypospadias (69/31%), compared with either controls (P 0.035) or glanular or penoscrotal hypospadias combined (32/55%) (P 0.056). There were no significant differences in CAG lengths between the cases and controls. Our findings indicate an association between GGN length and the risk of cryptorchidism and penile hypospadias, both conditions considered consequences of low androgenicity. (J Clin Endocrinol Metab 89: 5105–5109, 2004)

We report the follow-up of 47 patients with penile hypospadias who were treated by the Scuderi procedure between 1988 and 1998 at Sahlgrenska University Hospital, Goteborg, Sweden. Forty of the patients (85%) had had no previous operations, while the remaining seven had had meatotomy with chordectomy only, or an unsuccessful Dennis-Browne procedure. Hypospadias was distal in 35 (74%), mediopenile in 8 (17%), and proximal in 4 (9%); 21 (45%) showed signs of curvature. After a Scuderi urethroplasty one patient developed a fistula (2%) and 4 developed mild stenosis. The early success rate was therefore 42/47 (89%) and this later increased to 46/47 (98%) after non-surgical treatment of the stenoses. The results support the use of the Scuderi procedure for correction of primary and secondary penile hypospadias with a low complication rate.

Tubularized incised plate urethroplasty was performed to repair 20 distal and 5 mid-penile hypospadias cases. In distal hypospadias repair meatal stenosis occurred in 1 patient and urethral fistula in another. The overall complication rate in this group was thus 10%. Among midpenile hypospadias cases meatal stenosis was observed in 1 (20%) patient. As a conclusion, tubularized incised plate urethroplasty was found to be a successful method for treating distal hypospadias and encouraging results were obtained in mid-penile hypospadias cases, Copyright (C) 2000 S. Karger AG, Basel.

In this article, one-stage repair of complicated cases of penile hypospadias when there is no penile skin available for safe reconstruction is described. An island of the most median hairless part of the scrotal skin around the median raphe was used as a skin flap based on its scrotal septal pedicle with an extended and free arc of rotation for repair of distant urethral defects. The bilaterally stretched, most median area of scrotal skin is almost hairless. This well-vascularized flap was used in reconstruction of 18 patients with recurrent, complicated, proximal, and distal penile hypospadias from January 1989 through July 1993. Of these, 17 patients were post pubertal and 1 was prepubertal. A maximum of 5 years and a minimum of 8 months follow-up showed no hair growth problems. Complications were sacculation of the reconstructed urethra in 1 patient, meatal stenosis in 1 patient, and urethral fistula in 1 patient. Technique refinements and encouraging results as well as complications are discussed.

This report discusses the clinical findings on two patients with 45,X/46,XY mosaicism, two boys presented with penile hypospadias and cryptorchidism. A dysgenetic ovary and a testis were found in one boy, and a dysgenetic ovary in the other. Both patients can be considered to be true hermaphrodites on the basis of histology and clinical and hormonal observations. 45,X/46,XY mosaics have a wide range of phenotypic appearances and their gonadal morphology can also show great differences. However, the incidence of true hermaphroditism in individuals with 45,X/46,XY mosaicism is low and the reports in the literature rare. It is likely that males with 45,X/46,XY who suffer only mild maldevelopment of the external genitalia will not be recognized. In all patients with penoscrotal hypospadias and cryptorchidism with 45,X/46,XY mosaicism, the possibility of true hermaphroditism should be considered.

Summary The onlay island flap urethroplasty was originally used to repair anterior hypospadias without chordee and was later used to repair penile hypospadias with a well developed urethral plate exhibiting little or no chordee after release of skin tethering. It is possible to treat all cases of penile hypospadias even with severe chordee by releasing the chordee without dividing the urethral plate and by reconstructing the urethra with an onlay island flap.

Background: Numerous ingenious methods have been described to repair hypospadias with variable results. The anterior urethral advancement technique reported by Chang[1] to repair distal hypospadias has shown encouraging results. We have reevaluated this technique with some modifications to improve its results.Materials and Methods: This study was done on 72 patients, 19 cases with glanular hypospadias, 20 cases with coronal hypospadias, 22 cases of subcoronal hypospadias,and 11 cases with anterior penile hypospadias in the period between September 1999 and October 2003. The patients′ age ranged from two years to twenty five years (median age 5.6) years. All the patients were operated using Chang′s technique with our modifications. Results: There were no major complications in any of our patients, no postoperative fistulae or urethral stricture. Three patients had meatal stenosis and preputial edema occurred in 83.3% in non-circumcised patients.Conclusion: Modifications of the anterior advancement technique has produced excellent Results. It is easy to do and learn and also offers good cosmetic and functional results.

A technique of hypospadias repair is detailed which combines the most desirable features of the methods of Byars and Cloutier. In 100 consecutive repairs performed personally the occurrence of fistulas was only 5 per cent.

During the years 1980–1985, 80 children with penile hypospadias underwent repair using a slight modification of the van der Meulen technique. All the children had mid or distal shaft hypospadias excluding those with glandular or penoglandular position. All patients except 10 had chordee which necessitated a release at a previous operation. Two children had previously unsuccessful repairs by the Denis Browne technique. The overall hospitalization was at the mean of 4.6 days per child. In 10 children (12.5%) some complications occurred, of which 3 (3.75%) had fistula and in six (7.5%) meatal or neo-urethral strictures developed. In a small number of patients there was some degree of torsion, mostly temporary, and in no case did it cause any functional disturbance.

Mid-shaft penile hypospadias was found in an otherwise normal adult male rhesus monkey. Histological examination of the penis supports the conclusion that the condition was congenital and not due to trauma.

A new method of one-stage surgical correction of distal to penoscrotal hypospadias is described. The chordee is released by skin lysis alone and urethroplasty is done by the flip-flap technique while the globular glans is rerolled over the new urethra, all in one stage. The complication rate was minimal (15 per cent), and acceptable in the 40 patients who underwent this modified one-stage King-Hoffman urethroplasty.

Distal penile hypospadias was repaired in 59 boys with a modification of the Mathieu technique. Since a watertight urethroplasty is performed without overlying suture lines, catheter drainage and urinary diversion may not be necessary and they were not used in any patient. Penile nerve block and a small dressing allowed for postoperative mobilization. An excellent cosmetic and functional result was achieved with few complications, even in boys who had had prior unsatisfactory repairs. Because the children are ambulatory postoperatively and tolerate voiding through the repair, this procedure often is performed on an outpatient basis.

A new one-stage procedure for repair of penile hypospadias is presented. Seventeen cases have been performed with minimum complications. The steps of the procedure are described.

Even forms of penile hypospadias (grade 2) are often characterized by an insufficient rise of plasma testosterone in the HCG test, indicating subnormal testosterone levels during embryonic life as a possible cause of the anomaly (Figs. 2 and 3).

Publisher Summary This chapter discusses the results of fibroblast studies carried out for clinical androgen insensitivity. The findings of greatest significance to emerge from these studies were the following: (1) a significant subgroup of patients with penile hypospadias showed evidence of abnormal nuclear localization of androgen with normal androgen receptor levels; (2) in testicular feminization, there were structural fibroblast protein abnormalities that can be visualized using the technique of two-dimensional gel electrophoresis. The first finding may be of considerable clinical importance in that hypospadias is a common congenital malformation and one in which no cause can usually be found. The observations made were based on relatively small numbers of patients. More extensive surveys are required to determine the prevalence of the nuclear binding defect more precisely. The second finding is significant because it points to a new direction from which to approach the investigation of androgen insensitivity disorders.

A surgical technique for correction of hypospadias with chordee in one stage is described. This technique which brings the ectopic meatus up to the tip of the glans was successfully applied in 3 cases of penoscrotal and in 8 cases of penile hypospadias.

Summary It is advisable to describe hypospadias according to the site of the hypospadias orifice as well as the amount of chordee present. In 75% of our cases the hypospadiac orifice is at the coronal sulcus or thedistal penile shaft, and chordee may be absent or minimal. This chordee is often due to skin insufficiency on the ventral penile shaft. In such instances, the chordee may be released by skin mobilization alone and the skin deficit repaired by transposition of the unrolled dorsal hood to the ventral aspect of the penis. Thus, the ventral penile skin may be used to bring the meatus to the coronal sulcus in a one-stage urethroplasty in which a skin graft or a long flap with a dubious blood supply becomes unnecessary. The addition of a glandular urethroplasty provides a good cosmetic result. Complications are uncommon. The common traumatic penile hypospadias complicating circumcision in Nigeria can be adequately repaired using the Denis Browne technique.

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