Urorectal Septum Malformation Research Articles

Urorectal Septum Malformation Sequence With Retroperitoneal Neuroblastoma: A Case Report of an Unusual Association.

Urorectal septum malformation sequence (URSMS) is an uncommon disease characterized by a failure of the anorectal septum to divide the cloaca and fuse with the cloacal membrane. Complete URSMS is usually lethal in newborn due to severe renal dysfunction and pulmonary hypoplasia. Partial URSMS is compatible with life with a single perineal opening draining a common cloaca with an imperforate anus which amenable to surgical management. Antenatal diagnosis of URSMS is challenging because of multisystem, complex abnormalities involving gastrointestinal, urogenital tract, cardiovascular, and musculoskeletal systems. In this case report, we describe a 15-week male fetus with partial URSMS having a spectrum of multisystem structural anomalies associated with fetal neuroblastoma in retroperitoneal location and adrenal neuroblastoma in situ.

Prenatal ultrasound manifestations of partial urorectal septum malformation sequence from the first trimester to postnatal: a case report

BackgroundUrorectal septum malformation sequence (URSMS) is characterized by incomplete partitioning of the genital, rectal, and urinary tracts, resulting in a severe form of anorectal malformation. The partial URSMS, also known as the persistent cloaca, represents a milder variant where a single perineal opening serves as a passage for the urinary, gastrointestinal, and reproductive tracts.Case presentationWe present a rare case of partial URSMS accompanied by duplicated vagina and uterus, hydronephrosis, ascites, and anal atresia.ConclusionsThis case report describes the sonographic findings at different stages of pregnancy and their changes throughout gestation.

A Spectrum of Congenital Anomalies of the Kidney and Urinary Tract (CAKUT)-Diagnostic Utility of Perinatal Autopsy.

To describe the spectrum of congenital renal anomalies and emphasize the critical role of comprehensive autopsy examination in identifying CAKUT, especially of lower urinary tract malformations correlating with prenatal imaging methods. Retrospective analyses of CAKUT diagnosed at fetal autopsy were analyzed over a 7-y period and correlated with prenatal imaging findings. Among the 255 fetal autopsies, 45 cases were detected with CAKUT. Isolated (27%), syndromic CAKUT (51%), and CAKUT associated with other system anomalies (22%) were found. Hydronephrosis, followed by cystic renal diseases and agenesis were the common renal malformations. The gastrointestinal tract (GIT) was the commonest system associated with CAKUT. Among the syndromic CAKUT, the urorectal septum malformation (URSM) was the most frequent one, followed by VACTER-L, acrorenal syndrome, and OEIS complex. When correlating prenatal USG and autopsy findings, a significant change in final diagnosis was observed in 60% of cases. Extrarenal malformations and syndromic associations of CAKUT predominated over isolated ones. Detection of lower urinary tract anomalies in CAKUT is difficult through antenatal imaging methods if associated with oligohydramnios. In these circumstances, the perinatal autopsy has a significant role in arriving at the final diagnosis which guides the clinician in predicting the recurrence risk and the need for genetic workup.

An Interesting Challenge of Leiomyomatosis in a Suspected Case of Urorectal Septum Malformation Sequence

An Interesting Challenge of Leiomyomatosis in a Suspected Case of Urorectal Septum Malformation Sequence

NAD+ deficiency in human congenital malformations and miscarriage: A new model of pleiotropy.

Pleiotropy is defined as the phenomenon of a single gene locus influencing two or more distinct phenotypic traits. However, nicotinamide adenine dinucleotide (NAD+) deficiency through diet alone can cause multiple or single malformations in mice. Additionally, humans with decreased NAD+ production due to changes in pathway genes display similar malformations. Here, I hypothesize NAD+ deficiency as a pleiotropic mechanism for multiple malformation conditions, including limb‐body wall complex (LBWC), pentalogy of Cantrell (POC), omphalocele‐exstrophy‐imperforate anus‐spinal defects (OEIS) complex, vertebral‐anal‐cardiac‐tracheoesophageal fistula‐renal‐limb (VACTERL) association (hereafter VACTERL), oculoauriculovertebral spectrum (OAVS), Mullerian duct aplasia‐renal anomalies‐cervicothoracic somite dysplasia (MURCS), sirenomelia, and urorectal septum malformation (URSM) sequence, along with miscarriages and other forms of congenital malformation. The term Congenital NAD Deficiency Disorder (CNDD) could be considered for patients with these malformations; however, it is important to emphasize there have been no confirmatory experimental studies in humans to prove this hypothesis. In addition, these multiple malformation conditions should not be considered individual entities for the following reasons: First, there is no uniform consensus of clinical diagnostic criteria and all of them fail to capture cases with partial expression of the phenotype. Second, reports of individuals consistently show overlapping features with other reported conditions in this group. Finally, what is currently defined as VACTERL is what I would refer to as a default label when more striking features such as body wall defects, caudal dysgenesis, or cloacal exstrophy are not present.

Penile hypoplasia associated with anorectal malformation: What should we call this condition?

Background: Urogenital abnormalities are common in patients with anorectal malformations (ARM). The wide spectrum of urogenital abnormalities and ARM sometimes make it difficult to name the conditions simply. Case Presentation: We experienced a case of penile hypoplasia associated with the urethrorectal communication. Conclusion: From the viewpoint of urogenital anomalies, we might call this condition “aphallia variant” or “absent penis spectrum”. On the other hand, from the viewpoint of ARM, we might call this condition “male posterior cloaca” or “partial urorectal septum malformation sequence”. More important than naming them is understanding the clinical conditions precisely.

Urorectal septum malformation sequence with a giant calculus in the colon cyst in an adult

Abstract Introduction: The present article reports urinary and digestive system abnormalities, including retrocaval ureter, anal atresia, and colon duct cyst with duplicate urethra carrying a giant calculus in a 40-year-old man. Patient concerns: A 40-year-old man visited the hospital complaining of acute pain in the right lower abdomen. Diagnosis: Cystoscopy showed that the patient had duplicated urethra and bladder, and pathology showed that the duplicated bladder consisted of colon tissue, which led to the diagnosis of a urorectal septum malformation sequence. Interventions and outcomes: The calculus was removed, and the retrocaval ureter was treated with laparoscopic ureteroureterostomy. We followed up for 3 months after the secondary surgery, and there were no complications. Conclusion: A urorectal septum malformation sequence with a giant calculus in a colon cyst is rare. Hence, clinicians should be aware of the possibility of calculus formation in patients with a urorectal septum malformation sequence.

Common pathogenesis for sirenomelia, OEIS complex, limb-body wall defect, and other malformations of caudal structures.

Decades of clinical, pathological, and epidemiological study and the recent application of advanced microarray and gene sequencing technologies have led to an understanding of the causes and pathogenesis of most recognized patterns of malformation. Still, there remain a number of patterns of malformation whose pathogenesis has not been established. Six such patterns of malformation are sirenomelia, VACTERL association, OEIS complex, limb-body wall defect (LBWD), urorectal septum malformation (URSM) sequence, and MURCS association, all of which predominantly affect caudal structures. On the basis of the overlap of the component malformations, the co-occurrence in individual fetuses, and the findings on fetal examination, a common pathogenesis is proposed for these patterns of malformation. The presence of a single artery in the umbilical cord provides a visible clue to the pathogenesis of all cases of sirenomelia and 30%-50% of cases of VACTERL association, OEIS complex, URSM sequence, and LBWD. The single artery is formed by a coalescence of arteries that supply the yolk sac, arises from the descending aorta high in the abdominal cavity, and redirects blood flow from the developing caudal structures of the embryo to the placenta. This phenomenon during embryogenesis is termed vitelline vascular steal.

Surgical reconstruction of abnormally located penis in urorectal septum malformation sequence: report of a case

Urorectal septum malformation sequence (URSM) is a rare congenital anomaly of caudal end of mesoderm. There is usually a single or no opening in the perineum. An infant with dysmorphic facial features, ambiguous genitalia, meningomyelocele, pes equinovarus, left renal agenesis, severe hydronephrosis of the right kidney, and anuria requiring right ureterocutaneostomy during the neonatal period is reported. Initial physical examination revealed fusion of labioscrotal folds forming a single sac without a raphe, and a single gonad on the left side of the sac, less than 1 mm in size. There was no phallus, urethral opening, or any palpable cavernous body. Karyotype analysis from peripheral blood was 46XY. Chromosomal microarray analysis using Agilent 8X60K platform revealed arr [hg19](1-22)x2,(X,Y)x1. DNA sequence analysis for WT1 gene was normal. During inguinal hernia repair, cavernous bodies were detected in the retroperitoneal space under the hernia sac intraoperatively. Penis was reconstructed using two rotational flaps from the midline skin above the pubic bone to cover the cavernous bodies. This report aims to discuss the clinical features as well as surgical options for reconstruction of an abnormally located penis in an infant with partial URSM. Level of evidence: Level V, therapeutic study.

Congenital perineal lipoma associated with bilateral undescended testes and anorectal malformation

Abstract The trio of perineal soft tissue tumour, anorectal malformation (ARM) and external genitalia abnormality is exceedingly rare. We present a case of a three-month-old infant who presented with bilateral undescended gonads, ARM and perineal mass. Chromosomal study showed a male profile and ultrasound of his groin suggested right intra-abdominal testis, with the left gonad not visualised. He underwent a period of rectal washouts via the perineal fistula before undergoing elective limited posterior sagittal anorectoplasty. He subsequently underwent left single stage orchidopexy, right first stage orchidopexy and excision of the perineal lump at 10 month of age. Histology revealed lobules of adipocytes with intervening fibrous septae with focal areas of myxoid stroma, suggestive of a lipoblastoma. He then underwent second stage right orchidopexy six month later and no recurrence was noted. Only two cases of perineal soft tissue tumour associated with ARM and external genital abnormality were previously reported. It is likely that the large size of the perineal mass contributed to mal-descent of both testes. We postulate that the constellation of anomalies in our patient falls into the category of the urorectal septum malformation sequence.

Rare and Interesting Case of Urorectal Septum Malformation

Rare and Interesting Case of Urorectal Septum Malformation

The embryology of persistent cloaca and urogenital sinus malformations.

Cloacal malformations are characterized by the confluence of the lower urinary tract, the female reproductive tract, and the rectum to create a common channel with a single opening on the perineum. The presence of a cloaca is a normal phase of early human embryological development. Between the 4th and 7th weeks of gestation, the cloaca undergoes subdivision to form the hindgut and urogenital sinus. Failure of this process results in the congenital anomaly termed persistent cloaca (PC). The term urorectal septum malformation sequence (URSMS) is also used to describe this anomaly. The classic description of this process which is still cited in many standard textbooks dates from the 19th century. However, this has been increasingly called into question by the findings of studies using modern scientific methodology. Urogenital sinus anomalies are defined by the confluence of the urethra and vagina to form a common channel of varying length with a single perineal opening. In this condition, the anorectal canal opens separately on the perineum. The presence of a urogenital sinus represents a transient phase of the normal development of the lower genital tract in the female fetus. However, the form of urogenital sinus most commonly encountered in the developed world is a feature of disordered sexual differentiation and does not arise simply from the persistence of the anatomical structure which is a feature of normal fetal development.

Partial urorectal septum malformation sequence with prune belly syndrome and oesophageal atresia with a tracheoesophageal fistula

Abstract The concurrence of Urorectal Septum Malformation (URSM) Sequence and Prune Belly Syndrome are extremely uncommon, with increased rarity with the coexistence of an oesophageal atresia with tracheoesophageal fistula. The URSM is denoted by an absence of perineal/anal orifices together with ambiguous genitalia, urogenital, colorectal and lumbosacral anomalies. A persistent cloaca or a partial URSMS entails a single anal/perineal opening that drains the urethra, vagina and rectum. Prune belly syndrome (PBS) encompasses the triad of urological connective tissue anomalies, absence or weakened abdominal walls, and cryptorchidism. In patients that do not fulfil the complete criteria a term pseudo-prune belly syndrome (PPBS) is used. The Prune belly spectrum is associated with poor prognosis due to pulmonary and renal complications. We discuss a rare case of a neonate with pseudo-prune belly syndrome, partial urorectal septum malformation and oesophageal atresia with tracheoesophageal fistula.

Genome-wide chromatin accessibility and transcriptome profiling show minimal epigenome changes and coordinated transcriptional dysregulation of hedgehog signaling in Danforth's short tail mice.

Danforth's short tail (Sd) mice provide an excellent model for investigating the underlying etiology of human caudal birth defects, which affect 1 in 10000 live births. Sd animals exhibit aberrant axial skeleton, urogenital and gastrointestinal development similar to human caudal malformation syndromes including urorectal septum malformation, caudal regression, vertebral-anal-cardiac-tracheo-esophageal fistula-renal-limb (VACTERL) association and persistent cloaca. Previous studies have shown that the Sd mutation results from an endogenous retroviral (ERV) insertion upstream of the Ptf1a gene resulting in its ectopic expression at E9.5. Though the genetic lesion has been determined, the resulting epigenomic and transcriptomic changes driving the phenotype have not been investigated. Here, we performed ATAC-seq experiments on isolated E9.5 tailbud tissue, which revealed minimal changes in chromatin accessibility in Sd/Sd mutant embryos. Interestingly, chromatin changes were localized to a small interval adjacent to the Sd ERV insertion overlapping a known Ptf1a enhancer region, which is conserved in mice and humans. Furthermore, mRNA-seq experiments revealed increased transcription of Ptf1a target genes and, importantly, downregulation of hedgehog pathway genes. Reduced sonic hedgehog (SHH) signaling was confirmed by in situ hybridization and immunofluorescence suggesting that the Sd phenotype results, in part, from downregulated SHH signaling. Taken together, these data demonstrate substantial transcriptome changes in the Sd mouse, and indicate that the effect of the ERV insertion on Ptf1a expression may be mediated by increased chromatin accessibility at a conserved Ptf1a enhancer. We propose that human caudal dysgenesis disorders may result from dysregulation of hedgehog signaling pathways.

Clinical and risk factor analysis of cloacal defects in the National Birth Defects Prevention Study.

Cloacal exstrophy (CE) and persistent cloaca (PC) (alternatively termed urorectal septum malformation sequence [URSMS]), represent two major cloacal defects (CDs). Clinical characteristics and risk factors often are studied for both defects combined, rather than exploring if these defects have different etiologies. We enumerated clinical features for 47 CE and 54 PC (inclusive of URSMS) cases from the National Birth Defects Prevention Study. Thirty-three CE cases were classified as isolated and 14 as multiple (presence of unassociated major defects); respective totals for PC cases were 26 and 28. We compared selected child and maternal characteristics between 11,829 non-malformed controls and CE and PC cases using chi-square or Fisher's exact tests. Compared to controls, CE and PC cases were statistically more likely (p < 0.05) to be preterm; CE cases were more likely to be multiple births. We conducted logistic regression analysis to estimate odds ratios and 95% confidence intervals for any CD, CE, and PC with selected self-reported maternal prepregnancy and periconceptional (one month prior to 3 months following conception) exposures. In crude and adjusted analyses, we observed significant positive associations for any CD, CE, and PC with use of any fertility medication or assisted reproductive technology procedure. Significant positive associations observed only in crude analyses were any CD with maternal obesity or use of progesterone, any CD and CE with any x-ray, and any CD and PC with use of folate antagonist medications. Our findings provide some of the first insights into potential differing etiologies for CE and PC.

EP12.13: A case of partial urorectal septum malformation sequence with a very small lower abdominal cyst and review of literature

Background: Partial urorectal septum malformation sequence is a rare congenital malformation of urorectal septum dysplasia and failure of the breakdown of th cloacal membrane, is characterised by abnormalities of the ambiguous genitalia, urogenital organs, a single perineal/anal opening that drains a common Cloaca, and absent anus. We report a case of partial urorectal septum malformation sequence, who was suspected on pregnancy ultrasound scan at 24+6 weeks' gestation in our department and confirmed upon delivery. Case presentation: A 19-year-old married woman, Gravida 1 Para 0, presented to antenatal clinic of Cheng Du Women and Children's Central Hospital, Si Chuan province, China, at 24+6 weeks' gestation by dates, when ultrasound examination was performed, showing a very small common cloaca in the lower abdomen, absence of bladder, ambiguous genitalia and imperforate anus. Both mother and clinicians agreed on termination of pregnancy. The mother spontaneously delivered a dead female fetus weighing 1085 grams at 25+4 weeks' gestation after amniotic cavity injection rivanol, who had multiple congenital anomalies including imperforate anus, smooth perineum, absence of normal urethral and vaginal openings, absent bladder, uterus, vagina, and urethra, in combination with a very small common cloaca opening in the perinea and myelomeningocele in the sacral vertebrae. Conclusion: The characteristic features of the URSMS in ultrasonography are relate to the type of the URSMS, not all URSMS along with very dilated cystic regions in the abdomen.

Misdiagnosis of a cloacal exstrophy variant as urorectal septum malformation in a fetus by ultrasound: A case report

Cloacal exstrophy variants are comprised of a wide range of characteristics, of which there are four primary features, including omphalocele, bladder exstrophy, an imperforate anus and spina bifida. The existing literature regarding the differential diagnosis from alternative urinary diseases prenatally are limited. If the bladder is present, defects in the ventral wall may not be visualized with prenatal ultrasound in certain conditions, including oligohydramnios, and differential diagnosis from urorectal septum malformation sequence is a challenge. In order to improve the diagnosis of cloacal exstrophy variants, the present study investigated the misdiagnosis of a cloacal exstrophy variant as a urorectal septum malformation in a fetus by ultrasound and analyzed the reasoning of diagnosis in detail.

A Rare case of Aphallia

. Aphallia (total absence of penis) is an extremely rare abnormality that can be part of the urorectal septum malformation sequence. We are reporting a 40-day-old boy who was referred to our nephrology clinic due to the absence of the penis and urinating through the rectum. He was born to a 17-year-old mother and a 24-year-old father, and was delivered term via normal vaginal delivery. The pregnancy was uncomplicated with no maternal toxin or medication exposure. Both parents were healthy and there was no family history of congenital abnormality. The parents were also unrelated. Physical examination revealed agenesis of the penis, a normal scrotum, and bilateral normally positioned testises. Moreover, the heart, lungs, abdomen, head and neck, and spinal column were all normal on examination. The karyotype was 46XY and the gender was male. Initial ultrasonography one week after birth revealed moderate bilateral hydronephrosis but the last ultrasonography 45 days later revealed only mild fullness of both kidneys. Keywords: Aphallia; Gender; penile agenesis.

Umbilical cyst due to patent urachus in a fetus with complete urorectal septum malformation sequence

Urorectal septum malformation sequence is a sporadic malformation due to failure of septation of primitive cloaca with no anal opening. Umbilical cyst can be associated with chromosomal aneuploidy such as trisomy 18 or trisomy 13. We report on a fetus with complete urorectal septum malformation sequence with an umbilical cyst resulting from a patent urachus and with meconium as its content. This report adds to the variety of the causes of umbilical cyst and the spectrum of consequences of urorectal septal defect.

A Case of Complete Urorectal Septum Malformation Sequence: Successful Vesicoamniotic Shunting for Obstructive Uropathy

Complete urorectal septum malformation (URSM) sequence is a severe malformation affecting the urinary, genital and alimentary tracts. It is highly lethal due to severe renal dysfunction and pulmonary hypoplasia. Here we present a case of complete URSM sequence, where vesicoamniotic shunts were placed during midtrimester for obstructive uropathy. A 29-year-old woman was found to have a fetal abdominal cyst at 10 +6 weeks of gestation. Obstructive uropathy was diagnosed and a vesicoamniotic shunt was placed at 14 +3 and 20 +0 weeks of gestation. Subsequent ultrasound findings were suggestive of URSM sequence. The infant was delivered by cesarean section at 34 +6 weeks of gestation, and complete URSM sequence was diagnosed after birth. Obstetricians should be attentive to the possibility of complete URSM sequence when prominently dilated lower abdominal cyst is detected by ultrasonography. This case is indicative of the usefulness of vesicoamniotic shunting for obstructive uropathy of complete URSM sequence. J Clin Gynecol Obstet. 2014;3(3):117-120 doi : http://dx.doi.org/10.14740/jcgo283w