An epidemiologic study of penoscrotal transposition by maternal characteristics using data from the Texas birth defects registry.

BACKGROUND: Penoscrotal transposition (PST) is an uncommon urogenital malformation in which the penis is mal-positioned to be inferior to the scrotum. The purpose of this study was to explore PST risk by maternal characteristics and to describe co-occurring congenital abnormalities in the Texas Birth Defects Registry (TBDR). METHODS: We conducted a population-based descriptive study examining occurrence of PST in the TBDR between 1999 and 2019. The primary outcome variable was PST diagnosis during infancy. Descriptive variables included maternal age, education, and race/ethnicity. Prevalence ratios (PRs) were calculated within each maternal variable category using Poisson regression. Counts and percentages of cases with select co-occurring congenital abnormalities were also calculated. RESULTS: Overall, 251 infants had PST, providing a prevalence of 0.61/10,000 live male births (95% CI: 0.53-0.68). PST prevalence was significantly lower among infants of mothers who had lower educational attainment (high school), who were younger (<25 vs. 25-34), and who were Hispanic (vs. non-Hispanic White) and was significantly higher among older mothers (35+ vs. 25-39). Hypospadias was the most common co-occurring genitourinary anomaly, affecting close to 70% of cases. CONCLUSIONS: To our knowledge, this is the first investigation exploring the prevalence of PST in a population-based birth defects registry. Our findings help to understand the risk for PST among select maternal demographic characteristics and may assist in generating hypotheses about the underlying etiology of this condition for future work.

Evaluation of tunica vaginalis flap-covering combined with modified Glenn-Anderson in one-stage repair of proximal hypospadias with incomplete penoscrotal transposition.

Objective: To explore a novel repair method for proximal hypospadias with incomplete penoscrotal transposition in children and evaluate its safety and outcomes. Methods: A retrospective analysis of clinical data was conducted for 86 children with severe proximal hypospadias with incomplete penoscrotal transposition who were hospitalized in our department between June 2018 and February 2021. In total, 42 patients (Group A) underwent repair following a one-stage method in which tunica vaginalis flap-covering was combined with a modified Glenn-Anderson procedure, while 44 patients (Group B) underwent a two-step repair consisting of tunica vaginalis flap-covering using the Duplay technique and the modified Glenn-Anderson procedure. The two groups were compared on operation time, length of postoperative hospital stay, postoperative complications, and associated costs. Results: All operations were successful in both groups. No statistical difference was observed between the two groups in incidence of stenosis of the urinary meatus (2.38% vs. 4.54%, P = 0.279), urethral stricture (2.38% vs. 2.27%, P = 0.948), urinary fistula (7.14% vs. 6.82%, P = 0.907), or urinary infection (7.14% vs. 4.55%, P = 0.309). Additionally, there was no statistical difference between the groups in operation time (63.21 ± 5.20 vs. 62.07 ± 4.47 min, P = 0.059), postoperative off-bed time (7.02 ± 1.32 vs. 6.84 ± 1.20 days, P = 0.456), or duration of hospitalization (10.55 ± 1.15 vs. 10.15 ± 1.45 days, P = 0.092). However, Group B patients underwent an additional second-stage operation, incurring extra costs. Three months after surgery, Group A were judged more positively on the PPPS (specifically receiving higher scores on shaft skin and general appearance) by both the parents (shaft skin: 2.10 ± 0.82 vs. 1.93 ± 0.62, P = 0.024; general appearance: 2.16 ± 0.91 vs. 1.93 ± 0.72, P = 0.042) and the surgeon (shaft skin: 2.42 ± 0.70 vs. 2.25 ± 0.58, P = 0.025; general appearance: 2.38 ± 0.69 vs. 2.29 ± 0.51, P = 0.041). In most cases, the parents and surgeon were satisfied with the appearance of the genitals after one-stage repair. Conclusion: The advantages of the novel repair technique include use of a single-stage operation, producing a better appearance at a lower cost. The tunica vaginalis flap-covering method is not only demonstrated to be safe and effective, but it is also a simpler method than the conventional operation.

Cloaca-Like Anomalies in the Male: A Report on Two Cases.

"Cloaca" is a term used to describe an anomaly in the female where a single orifice is located in the perineum draining both urogenital and gastrointestinal tracts. Few reports used the same term "cloaca" to describe the counterpart anomaly in the male. We present two "male" cases of anorectal anomalies associated with significant penile deformity (caudally displaced penis) that were managed during the period between January 2010 and September 2021. Characteristically, both cases had a single "central" perineal orifice. The latter was located anterior to the predestined site of the normal anus and just beneath a caudally positioned hypospadiac phallus. The caudal displacement of the penis was strikingly obvious by the presence of severe form of penoscrotal transposition. Both cases were associated with a perineal swelling (hamartoma) just beside the central perineal orifice. The urethra was very short (like that in the female), besides the single perineal orifice, which makes the presentation very similar to cloacal anomalies.

[Effectiveness of penis up transfer method for penoscrotal transposition in children].

Objective: To investigate the effectiveness of penile up transfer method in the treatment of penoscrotal transposition (PST) in children. Methods: A clinical data of 46 children with PST admitted between January 2015 and March 2021 and met selective criteria was retrospectively analyzed. The M-shaped scrotal flap method was adopted in 21 cases (group A), and the penile up transfer method was adopted in 25 cases (group B). There was no significant difference in age and PST typing between the two groups ( t=0.491, P=0.626; χ 2=0.710, P=0.790). The operation time and postoperative complications of the two groups were recorded and compared, and the correction effect of PST was evaluated. Results: All operations were successfully completed, and no urethral injury occurred during operation. The operation time was significantly less in group B than in group A [(70.36±9.76) minutes vs. (96.62±13.18) minutes; t=7.553, P=0.000]. All children were followed up 6-33 months (mean, 13.2 months). There were 5 cases (23.8%) of skin necrosis and 6 cases (28.6%) of scar hyperplasia in group A, and 1 case (4.0%) of skin necrosis and 1 case (4.0%) of scar hyperplasia in group B. The incidence of complication was significantly lower in group B than in group A ( χ 2=3.949, P=0.047; χ 2=5.341, P=0.021). In the evaluation of PST correction at 6 months after operation, there were 15 cases of complete correction and 6 cases of incomplete correction in group A, 24 cases of complete correction and 1 case of incomplete correction in group B, and the difference was significant ( χ 2=5.341, P=0.021). Conclusion: The penis up transfer method is not only easy to correct PST, but also can correct scrotal separation at the same time, with fewer postoperative complications and satisfactory correction effect of penile scrotal appearance.

True partial diphallia with associated penoscrotal transposition of two hemi-scrotums.

Diphallia or duplication of penis is extremely rare condition with a reported incidence of 1 in 5-6 million live births. Approximately around 100 cases of diphallia have been described in literature, each case have a unique presentation from associated anomalies. Clinically these patients can be classified into complete (true diphallia) or partial duplication. In true diphallia, each penis has 2 corpora cavernosa and 1 corpus spongiosum. If the duplicate penis is smaller or rudimentary with complete structure, it is described as true partial diphallia. The term bifid phallus is used if there is only one corpus cavernosum in each penis. Due to low incidence and varied presentation, not much is known about the underlying pathophysiology, management options, and outcomes. Here, we report a case of partial diphallia with associated penoscrotal transposition of 2 hemi-scrotums.

Prenatal diagnosis of complete penoscrotal transposition with normal scrotum: Two case reports and review of the literature.

Complete penoscrotal transposition is an extremely rare congenital anomaly and is usually associated with other urinary system abnormalities. Prenatal diagnosis is feasible by demonstrating perineal anatomy and its relation with scrotum and phallus. We describe two prenatal cases presenting with oligohydramniosis and megacystis due to lower urinary tract obstruction. Postnatal diagnosis was confirmed in both cases. Considering the dismal perinatal outcome, an accurate prenatal diagnosis is required for counseling the parents and preparing for postnatal care.

Ectopias of the kidney, urinary tract organs, and male genitalia.

The most frequent anomaly of the urogenital tract is a simple renal ectopia with one organ lying in the pelvis. Crossed renal ectopia is a less common condition in which the ectopic kidney is located on the opposite side of the midline from the ureteral insertion in the urinary bladder. The cause of both types of renal ectopia is the arrest or failure of the kidney ascent from the pelvic to the lumbar position. Whereas an accelerated ascent leads to a subdiaphragmal or intrathoracic ectopic position, an ectopic ureter can be defined as one that does not drain into the trigonum vesicae. The ectopic orificium can be located situated in the bladder neck and urethra as well as somewhere in the genital area.Exstrophy of the urinary bladder is not a complete ectopia. Because the abdominal wall and the anterior part of the bladder wall are lacking, the bladder mucosa grows directly into the skin. The complex exstrophy of the bladder and intestine corresponds to a cloacal exstrophy, in which the bladder is split in two halves on either side of the gut portion. Testicular ectopia refers to the location of the testis in a position outside of its normal course of descent.Prostatic ectopia does not refer to the wrong location of the entire organ, but to a scattered group of prostate glands, which are mostly found in the submucosal part of the urinary bladder or proximal urethra. Other described locations are the intestinal wall, anus, pericolic fat tissue, spleen, seminal vesicle, testis, and cervix uteri.The associated ectopic penis, scrotum, and penoscrotal transposition are the least common and probably the absolutely most unknown malformations of the male genitalia. The ectopic penis and scrotum are located in the perineum, whereas in the transposition the penis lies above the scrotum.

[Ectopias of the kidney, urinary tract organs, and male genitalia. German version.] / Ektopien der Niere, Harnwege und männlichen Geschlechtsorgane.

The most frequent anomaly of the urogenital tract is a simple renal ectopia with one organ lying in the pelvis. Crossed renal ectopia is a less common condition in which the ectopic kidney is located on the opposite side of the midline from the ureteral insertion in the urinary bladder. The cause of both types of renal ectopia is the arrest or failure of the kidney ascent from the pelvic to the lumbar position. Whereas an accelerated ascent leads to a subdiaphragmal or intrathoracic ectopic position, an ectopic ureter can be defined as one that does not drain into the trigonum vesicae. The ectopic orificium can be located situated in the bladder neck and urethra as well as somewhere in the genital area.Exstrophy of the urinary bladder is not a complete ectopia. Because the abdominal wall and the anterior part of the bladder wall are lacking, the bladder mucosa grows directly into the skin. The complex exstrophy of the bladder and intestine corresponds to a cloacal exstrophy, in which the bladder is split in two halves on either side of the gut portion. Testicular ectopia refers to the location of the testis in a position outside of its normal course of descent.Prostatic ectopia does not refer to the wrong location of the entire organ, but to a scattered group of prostate glands, which are mostly found in the submucosal part of the urinary bladder or proximal urethra. Other described locations are the intestinal wall, anus, pericolic fat tissue, spleen, seminal vesicle, testis, and cervix uteri.The associated ectopic penis, scrotum, and penoscrotal transposition are the least common and probably the absolutely most unknown malformations of the male genitalia. The ectopic penis and scrotum are located in the perineum, whereas in the transposition the penis lies above the scrotum.

The application of penile base staggered flap in the operation of severe hypospadias with penoscrotal transposition / 中华整形外科杂志

Objective@#To explore the application of penile base staggered flap in the operation of severe hypospadias with penoscrotal transposition.@*Methods@#Twenty-three cases with severe hypospadias with penoscrotal transposition were corrected by urethroplasty and staggered flap plasty in our department from May 2013 to June 2016. After urethroplasty, the skin at the junction of the penile base and scrotum was transversely cut by 1.5-2.0 cm, and then sutured with Z-plasty to reconstruct the angle of the penis and scrotum.@*Results@#After the operation, infection and cracking at the suture of the staggered flap occurred in one child and was cured after dressing change and symptomatic treatment. Two cases suffered from urine leakage at the suture of the staggered flap. One of the cases realized self-healing and the other received a repair operation for urinary fistula. Three children suffered coronary sulcus fistula and was cured by urethroplasty. All the patients were followed up from 10 to 30 months with normal penis scrotal position and satisfactory appearance.@*Conclusions@#The application of penile base staggered flap can be used for severe hypospadias in one stage with penoscrotal transposition surgery. It is a simple and satisfactory method for the treatment of hypospadias with penoscrotal transposition.

Prenatal ultrasonographic diagnosis and differential diagnosis of fetal penoscrotal transposition / 中华医学超声杂志（电子版）

Objective To study the ultrasonographic features and differential diagnosis of fetal penoscrotal transposition.Two dimensional and three dimensional ultrasound were applied in the diagnosis of fetal penoscrotal transpositionto improve the detection rate. Methods Twenty cases of suspected penile scrotal transposition of the fetus in Shengjing Hospital affiliated to China Medical University fromJanuary 2015 to February 2017were included in present study. The ultrasound findings, fetal chromosome examination and clinical follow-up outcome were retrospectively summarized. Results Among the 20 suspected cases of penile scrotal transposition, 17 cases were diagnosed correctly. All the 17 cases were partial type of penile scrotal transposition. In the remaining 3 cases, 2 caseswere hermaphroditism with the karyotype of 46-XX, and the other 1 case was confirmed as normal female fetusesby clinical follow-up after birth. The ″tulip″signwas the typical ultrasonographic features offetal penoscrotal transposition. Conclusion 2D combined with 3D ultraosound is useful in diagnosis and differential diagnosis of fetal penile scrotal transposition.

A 13-year-old boy with a 7q36.1q36.3 deletion with additional findings.

Relatively little is known about 7q terminal deletion contiguous gene deletion syndrome. The deleted region includes more than 40 OMIM genes. We here report on a 13-year-old boy with 7q terminal deletion syndrome, a 6.89-Mb sized deletion on 7q36.1q36.3, identified by oligonucleotide array comparative genomic hybridization (CGH). He showed microform holoprosencephaly with microcephaly, distinctive facial features, severe intellectual disabilities, behavior problems, seizures, short stature, penoscrotal transposition, and ulnar ray deficiency. To date, no case of penoscrotal transposition or ulnar ray deficiency has been reported in 7q terminal syndrome. The majority of our patient presentations were attributed to dosage expression of the SHH gene with contributions from deleted genes within 7q.

When hormone defects cannot explain it: malformative disorders of sex development.

The birth of a baby with malformations of the genitalia urges medical action. Even in cases where the condition is not life-threatening, the identification of the external genitalia as male or female is emotionally essential for the family, and genital malformations represent one of the most stressful situations around a newborn. The female or male configuration of the genitalia normally evolves during fetal life according to the genetic, gonadal, and hormonal sex. Disorders of sex development occur when male hormone (androgens and anti-Müllerian hormone) secretion or action is insufficient in the 46,XY fetus or when there is an androgen excess in the 46,XX fetus. However, sex hormone defects during fetal development cannot explain all congenital malformations of the reproductive tract. This review is focused on those congenital conditions in which gonadal function and sex hormone target organ sensitivity are normal and, therefore, not responsible for the genital malformation. Furthermore, because the reproductive and urinary systems share many common pathways in embryo-fetal development, conditions associating urogenital malformations are discussed.

Duplicación rectal extrofiada asociada a malformación anorrectal y transposición pene-escrotal con hipospadias perineal: Reporte de un caso clínico / Exstrophy of rectal duplication associated with anorectal malformation and penoscrotal transposition with perineal hypospadias: A case report

Se presenta el caso de un paciente masculino quien requirió tratamiento por agenesia anorrectal con fístula rectouretral y transposición pene-escrotal con hipospadias perineal, acompañados de una masa perineal. La tumoración perineal se encontró íntimamente adherida y en continuidad al recto, lo que la hace compatible con una duplicación rectal extrofiada. La reconstrucción quirúrgica de la anomalía se realizó en etapas hasta lograr resultados funcionales y estéticos aceptables.

We present the case of a male patient who required treaatment due to anorectal agenesis with recto urethral fistula and penoscrotal transposition with perineal hypospadias, associated with a perineal tumor. The perineal tumor was found strongly adhered and contiguous to the rectum which makes it compatible with an exstrophy of rectal duplication. Surgical reconstruction of the birth defect was performed in stages until acceptable biological function and esthetic results were obtained.

Complete penoscrotal transposition: A three-stage procedure.

Complete penoscrotal transposition (CPST) with an intact scrotum is a rare anomaly in which the scrotum is located cephalic to the penis. It is the most severe degree of malformation of a spectrum of abnormalities in scrotal development. There are few cases reported in the literature, and there are few descriptions of the technique for correction and results. We describe a new case of CPST and its sequential correction.

Transposição penescrotal / Penoscrotal transposition

Transposição de pênis e escroto no ser humano é uma rara anomalia da genitália externa, caracterizada pela má posição do pênis em relação ao escroto, podendo ser na forma incompleta (parcial) ou completa. Frequentemente a transposição de pênis está associada a anomalias do genital (hipospadia, uretra curta), sistema renal, esquelético, gastrointestinal, cardiovascular e, ocasionalmente, a síndrome de regressão caudal. A reconstrução da transposição penescrotal, com prioridade a correção do ?chordee?, deverá produzir resultados satisfatórios, em termos estético e funcional, desde que o escroto e o pênis sejam colocados em suas posições anatômicas verdadeiras, evitando assim efeitos psicogênicos adversos.

Perineal lipoma associated with penoscrotal transposition in a neonate.

A neonate with perineal lipoma associated with penoscrotal transposition and bifid scrotum is reported.

A Case of del(13)(q22) with Multiple Major Congenital Anomalies, Imperforate Anus and Penoscrotal Transposition

"13q-"syndrome is known to have widely variable manifestations, including retinoblastoma, mental and growth retardation, malformation of brain and heart, anal atresia, and anomalies of the face and limbs. Here we report a case of del(13)(q22) with multiple major congenital anomalies for the first time in Korea. The patient was born at 36+4 weeks of pregnancy by caesarian section. Birth weight was 1490g. On examination the following features were noted: - imperforate anus, ambiguous genitalia (bifid scrotum, penoscrotal transposition, hypospadia), syndactyly of toes, absence of thumbs, abnormal facies (dolichocephaly, telecanthus, large low set ears, saddle nose, high arched palate, micrognathia). Neurocranial ultrasonography showed atrophy of the corpus callosum and multiple calcifications. He died at 14 days. Post-mortem autopsy findings showed cholestasis and fatty metamorphosis of liver, abnormal lobulation (Rt:2, Lt:1) and lymphangiectasis of the lung, VSD, ASD, PDA of heart, and acute tubular necrosis of kidney. Cytogenetic studies was confirmed to 46,XY,del(13) (q22) by Giemsa banded chromosomes from peripheral blood lymphocytes.

Correction of penoscrotal transposition: buttonhole technique

Transposition of the penis was performed in 13 patients, in that 11 patients were repaired hypospadias first. A suprapubic buttonhole is created in an anatomically correct of location for the penis. The shaft skin is mobilized. The penis is then passed through a tunnel of subcutaneous tissue, delivered into this buttonhole. All 13 patients have had an excellent cosmetic outcome. There have been no cases of vascular compromise to the shaft or scrotal skin. Because of simplicity and superior be used in all cases of penoscrotal transposition.

Surgical Outcome of Proximal Hypospadias with Penoscrotal Transposition / 대한비뇨기과학회지

PURPOSE: Penoscrotal transposition is found in cases with severe form of hypospadias. In those cases, severe chordee generally coexists and a long length of urethra may be necessary for its correction. We evaluated the clinical outcome of surgical repairs for 12 patients of proximal hypospadias with penoscrotal transposition. MATERIALS AND METHODS: Out of 12 cases, there were 2 with penoscrotal type, 7 with scrotal type and 3 with perineal type hypospadias. All cases had moderate to severe chordee. Five cases were treated with one-stage repair and seven cases with multi-stage repair. We analysed operative methods, postoperative complications and those managements between the cases of one-stage and multi-stage repairs. RESULTS: For one-stage repair, we used transverse preputial island flap method in 3 cases and urethroplasty using scrotal skin flap in 2 cases. For multi-stage repair, we performed Thiersh-Duplay urethroplasty in 2 cases, bladder mucosal graft in 2 cases and Belt-Fugua urethroplasty in 3 cases. Correction of penoscrotal transposition was performed successfully in all cases. In all cases, a paucity of skin was the most difficult problem. The overall complication rate was 50.0%. In cases treated with one-stage repair, there were two cases with urethrocutaneous fistulas. However, in cases treated with multi-stage repair, there were four cases with complications such as urethral strictures, urethrocutaneous fistulas with or without large skin defect. Overall the complications in cases with multi-stage repair were more severe than those in cases with one-stage repair. CONCLUSIONS: Our experience suggests that multi-stage operation may be not superior to one-stage operation in cases with proximal hypospadias associated with penoscrotal transposition. Thus we recommand one-stage repair in those cases despite a paucity of foreskin.