Anomalies Of Urogenital Tract Research Articles

Cystoscopic-guided scissor transection of intramural ectopic ureters as a novel alternate minimally invasive treatment option to laser ablation in female dogs: 8 cases (2011–2020)

To evaluate the safety and efficacy of cystoscopic-guided scissor transection of ectopic ureters (CST-EU) in female dogs. 8 incontinent female dogs with intramural ectopic ureters. For this retrospective case series, data were collected from medical records of dogs that underwent CST-EU to relocate the ectopic ureteral orifice to an anatomically normal trigonal location between June 2011 and December 2020. Outcome after hospital discharge was determined using owner telephone questionnaires. Ectopic ureters were bilateral in 4 of the 8 dogs, and all dogs had other urogenital tract anomalies. Owner questionnaire follow-up was available for 7 dogs, and results indicated 6 dogs had improved urinary continence immediately following the procedure. At the last follow-up (44 to 3,384 days after CST-EU), 3 of the 7 dogs were completely continent with CST-EU alone, 3 others became continent or were markedly improved with the addition of medications for urethral sphincter mechanism incompetence, and 1 required ureteroneocystostomy, colposuspension, and an artificial urethral sphincter to become fully continent. Owners of 5 of the 7 dogs reported that they considered the outcome of CST-EU as good to excellent, and all owners reported that they would consider having CST-EU performed again should they have another incontinent dog. Complications were minor, and only 3 dogs showed transient lower urinary tract signs after CST-EU. Results indicated CST-EU could provide a safe, effective, minimally invasive alternative in the absence of laser technology for the treatment of intramural ectopic ureters in female dogs.

Congenital Urogenital Tract Anomalies are Associated with a Higher Rate of Radiologic Interpretation Error

Objective: Congenital Urogenital Tract Anomalies (CUTA) are complex and proper diagnosis is important for competent patient care. We set out to investigate whether there is an increased rate of radiologic image interpretation error in patients with CUTA. Methods: We utilized a case-control study design to compare each CUTA case (n=30) with 6 age-matched controls (n=180). We evaluated electronic medical records obtained from EPIC of patients who were referred to our tertiary care center for a higher level of care. We compared imaging results from MRI, CT, and US to intraoperative findings to look for any discrepancies in four key anatomical areas (vagina, uterus, ovaries, and urologic-kidney/ureter/bladder). Error was determined using a standardized scoring system for adjudicating imaging discrepancies in each anatomic area. Results: Cases and controls were similar across all demographic variables except for weight, (controls had a higher BMI). The rate of radiologic interpretation error was higher in patients with congenital urogenital tract anomalies when compared to age-matched controls (OR=51.65; 95% CI (6.39, 417.42)). Conclusion: CUTA are associated with a high rate of radiologic interpretation error. Although radiologic scans are helpful in the work up of CUTA, imaging results may not be definitively diagnostic.

A retrospective analysis of congenital anomalies in congenital hypothyroidism.

Objectives We evaluated the spectrum of diseases accompanying congenital hypothyroidism (CH) in the United Arab Emirates and compared them with internationally studied patterns. Methods The presented retrospective cross-sectional study took place in two government tertiary care centres. In total, 204 patients with a confirmed diagnosis of CH and a minimum period of follow-up of 1 year were included. Patients with Down syndrome, infants born at <35weeks of gestation, and babies with TORCH (Toxoplasma gondii, Other viruses [HIV, measles, etc.], Rubella, Cytomegalovirus, and Herpes simplex) infections were subsequently excluded from the study. Results Of the subjects with CH, 39% had associated extrathyroidal anomalies (ETAs); among these, 25% had a single anomaly. A significant proportion of Arab males were affected by CH as compared to other ethnic groups. Dyshormonogenesis was the commonest aetiological cause (55%) of CH. Males with an ectopic lingual thyroid gland had significant ETAs as compared to females of the same cohort. The most common ETAs were congenital heart disease (16%), followed by urogenital tract anomalies (14%). Conclusions Detection of a high rate and variability of ETAs associated with CH necessitates the formulation of a structured screening programme including appropriate clinical, laboratory, and imaging tools to detect ETAs at an earlier stage.

Familial Currarino Syndrome

Abstract A four-day-old girl was transferred to a tertiary pediatric center with bilious aspirates and abdominal distension. Examination found a previously unsuspected anorectal malformation with a perineal fistula. Radiography revealed a scimitar sacrum and ultrasound a tethered cord, sacrococcygeal dysplasia and bilateral hydroureteronephrosis. Magnetic resonance imaging detected a presacral mass measuring 3.5cm. The features of anorectal malformation, sacral defect and presacral mass suggested Currarino Syndrome, also associated with spinal cord and urogenital tract anomalies. The patient's mother, maternal aunt and two maternal cousins also had Currarino syndrome, with genetic testing confirming a pathological variant in the MNX1 gene. The patient was managed with resection of the presacral mass and concurrent posterior sagittal anorectoplasty. Histopathology diagnosed a mature teratoma with immature elements. As there is a risk of 1 in 2 children of patients with Currarino syndrome being affected, careful clinical examination and appropriate imaging should be performed at birth.

First experience: management of Prune Belly syndrome in Harapan Kita Women and Children’s Hospital

Prune belly is a rare congenital syndrome, consisting of congenital abdominal wall musculature absence, urogenital tract anomalies, and cryptorchidism in male patient. The incidence of this syndrome is 1 in 35,000 to 1 in 50,000 live births and rarely occurs in females (3-5%). One step operation of ureteral re-implantation, orchidopexy, and abdominoplasty is one option of treatment in managing this condition. This was our first experience, involving a multidisciplinary approach. A 30 year old Asian Woman G4P3A0 at 33-34 weeks of gestation was referred to the Urology Department with a fetal ultrasound showing bilateral hydronephrosis and undescended testis. Prune Belly was first suspected when abnormal abdominal circumference was noted by the obstetrician while doing a fetomaternal ultrasound at the 19 weeks gestation. No intervention was undertaken during gestation. The baby delivered spontaneously at 38 weeks gestation. Testes were impalpable and the abdominal contour was suggestive of Prune Belly. CT urography showed bilateral hydronephrosis and hydroureter. Micturating cysto-urethrography showed bilateral vesicoureteral reflux while renogram showing a cortical defect. Serial follow-ip ultrasounds were done showing bilateral hydroureter with 4th grade bilateral hydronephrosis. By the age of 2 the patient underwent one step operation of ureteral reimplantation, orchidopexy, and abdominoplasty. After the operation, the patient recovered with good function and cosmetic result. Prune belly is a rare and complex congenital syndrome. From our experience at Harapan Kita Women and Children’s Hospital, one step operation involving multidisciplinary approach of ureteral re-implantation, orchidopexy, and abdominoplasty has shown a good result. Further follow up is needed to evaluate either this choice of treatment could improve patient outcome.

The use of fetal MRI for renal and urogenital tract anomalies.

Fetal anomalies are detected in approximately 2% of all fetuses and, among these, genitourinary tract abnormalities account for 30% to 50% of all structural anomalies present at birth. Although ultrasound remains the first line diagnostic modality, fetal MRI provides important additional structural and functional information, especially with the development of faster sequences and the use of functional sequences. The added value of MRI-based imaging is three-fold: (a) improvement of diagnostic accuracy by adequate morphological examination, (b) detection of additional anomalies, and (c) in addition, MRI has the potential to provide information regarding renal function. In this review, we describe the role of fetal MRI in the anatomical evaluation of renal and urogenital tract anomalies, and we also touch upon the contribution of functional MRI to the diagnostic workup of these conditions.

Clinicopathological Study of Congenital Anomalies in Urogenital Tract in Infants and Children

Background: Congenital abnormalities and malformations are more frequent in the urinary tract than in any other system of the body. The present study was conducted to evaluate incidence of congenital anomalies in urogenital tract in infants and children. Subjects and Methods: The present study was conducted on 55 cases age ranged 6 months to 8 years of congenital anomalies of urogenital tract which were admitted in department of Pediatric surgery ward of Kamla Nehru hospital, Bhopal during 1 year period. Type of anamoly was also recorded. In all patients, thorough clinical examination was performed. USG was done in all cases to confirm the cases. Results: Out of 1500 pediatric admissions, 56 (3.6%) had anomalies in urinary tract. In males, maximum lesions were hyposposdias seen in 13 followed by VUR & PUV in 12 patients and phimosis in 6 and 1 case of diphallia was found. In females, maximum lesions were congenital hydronephnosis, pelvic kidney, horse shoe kidney, ectopic ureter and ectopia vesicae seen in 1 patient each. Increased frequency of micturition was seen in 16, urine through ureter opening was seen in 12, dribbling of urine in 15 and suprapubic swelling was observed in 8 cases. USG revealed congenital hydronephnosis in 2, PUJ obstruction in 2, pelvic kidney in 2, ectopia vesicae in 2, ureterocele in 2. Conclusion: Authors found that maximum cases were of Hyposposdias followed by VUR & PUV and phimosis.

A large retrospective review of persistent proteinuria in children.

Proteinuria is a common finding in children. It may be due to a benign cause, but it can also represent early renal injury. Of children with persistent proteinuria noted in mass urine screening programs, 35% have a urine protein level greater than 100mg/dl and many of them are associated with many underlying renal diseases. The aim of this study was to identify the etiology and prognosis of persistent proteinuria in children. We collected data on urine protein from January 2011 to December 2016 in a tertiary medical center. During this 6-year period, 37,645 children received urinalysis, and 2.3% were found to have persistent proteinuria. We reviewed their medical charts for clinical diagnoses and renal function. According to the level of persistent proteinuria, we divided the children into three groups (mild, moderate, and severe). Most clinical diagnoses in the mild persistent proteinuria group were not readily identifiable. In the moderate and severe groups, acute kidney injury was the leading cause of significant proteinuria, followed by systemic lupus erythematosus, steroid-sensitive nephrotic syndrome, and congenital urogenital tract anomalies. There were significant differences in the rate of chronic renal insufficiency among the three groups. Prematurity with extremely low birth weight was also a major factor associated with pediatric chronic renal insufficiency. Assessing persistent proteinuria in children is important due to the diverse range of associated diseases or mortality.

Double inferior vena cava with L-type crossed fused renal ectopia: A rare case report

Duplication of the inferior vena cava (IVC), a rare anomaly reported to occur in 0.2-3% of the population and is known to be associated with various urogenital tract anomalies such as horseshoe kidneys, crossed fused ectopia and circum-aortic renal collar, retroaortic left renal vein and cloacal exstrophy. Inferior vena cava anomalies are rare, Some of such variations have significant clinical, surgical and radiological implications related to other cardiovascular anomalies and in some cases associated with venous thrombosis of lower limbs, particularly in young adults due to the inappropriate venous return increases the pressure, leading to blood stasis in lower extremities and development of varices. Left-sided IVC may cause misdiagnosis with para-aortic lymph node enalargement, and may cause difficulties in the transjugular approach for IVC filter implantation. So, these anomalies should be recognized carefully.

The Herlyn-Werner-Wunderlich Syndrome – A Case Report with Radiological Review

SummaryBackgroundHWW syndrome is a very rare congenital anomaly of urogenital tract involving Mullerian ducts and mesonephric ducts. It is characterised by a triad of symptoms - uterus didelphys, obstructed hemivagina and ipsilateral renal agenesis. It can be classified based on a completely or incompletely obstructed hemivagina. It presents soon after menarche or shows delayed presentation depending on the type. It can exhibit acute pelvic pain shortly after menarche and may show non-specific and variable symptoms with resultant delay in diagnosis. The most common presentation is pain and dysmenorrhea, and pain and abdominal mass in the lower abdomen secondary to haematocolpos and/or haematometra.Case ReportPresentation of a clinical case of a 13-year-old patient with HWW syndrome presenting with regular menses, dysmenorrhea and painful lump in hypogastric region on the left side of midline. We described the role of imaging modalities in diagnosis of the Herlyn-Werner-Wunderlich syndrome with a review of literature. USG and MRI showed left renal agenesis with compensatory hypertrophy of the right kidney, uterus didelphys with haematometra and haematocervix in the left uterus with evidence of blood in a dilated retort-shaped left fallopian tube and a normal right uterus. The unique feature of our case is haematometra and haematocervix with cervical and vaginal atresia found on the left side (classification 1.2) with associated left renal agenesis.ConclusionsHWW syndrome can present early or late, depending on the type. In patients with uterine and vaginal abnormalities, a work-up for associated renal anomalies should be performed. Early intervention is needed to reduce the risk of endometriosis and infertility.

Circumcision: Is it worth it for 21st-century Australian boys?

Circumcision: Is it worth it for 21st-century Australian boys?

Clinical practice

Renal candidiasis is an increasingly common condition affecting predominantly premature infants receiving neonatal intensive care or term infants with urogenital tract anomalies. Multiple risk factors are usually present. Although rare, some infants develop an obstructive uropathy due to fungal balls, and this requires prompt detection and intervention to preserve kidney function. The management of obstructive renal bezoars is challenging and not well summarised in the past. This is mainly due to scarce literature confined to case reports or case series only. This review clarifies various definitions used in relation to renal candidiasis and identifies infants particularly at risk of obstruction. Clinical presentation, diagnosis and the role of imaging are discussed. A summary of the recent literature is provided to outline the range of existing treatment options available with published drug dosages and mode of delivery used. No single approach is successful in all cases and clinicians need to be aware of the different options available: apart from adequate urinary drainage and use of systemic +/- local antifungal agents, additional treatment with fibrinolytic agents and/or endoscopic or open surgical removal may be required. A new simplified algorithm for use in management is proposed. We hope this review will help clinicians in their management of patients presenting with this complex and challenging diagnosis.

A mutation screen in patients with Kabuki syndrome

Kabuki syndrome (KS) is one of the classical, clinically well-known multiple anomalies/mental retardation syndromes, mainly characterized by a very distinctive facial appearance in combination with additional clinical signs such as developmental delay, short stature, persistent fingerpads, and urogenital tract anomalies. In our study, we sequenced all 54 coding exons of the recently identified MLL2 gene in 34 patients with Kabuki syndrome. We identified 18 distinct mutations in 19 patients, 11 of 12 tested de novo. Mutations were located all over the gene and included three nonsense mutations, two splice-site mutations, six small deletions or insertions, and seven missense mutations. We compared frequencies of clinical symptoms in MLL2 mutation carriers versus non-carriers. MLL2 mutation carriers significantly more often presented with short stature and renal anomalies (p=0.026 and 0.031, respectively), and in addition, MLL2 carriers obviously showed more frequently a typical facial gestalt (17/19) compared with non-carriers (9/15), although this result was not statistically significant (p=0.1). Mutation-negative patients were subsequently tested for mutations in ten functional candidate genes (e.g. MLL, ASC2, ASH2L, and WDR5), but no convincing causative mutations could be found. Our results indicate that MLL2 is the major gene for Kabuki syndrome with a wide spectrum of de novo mutations and strongly suggest further genetic heterogeneity.

Prenatal ultrasonographic diagnosis of urethral atresia

Urethral atresia is one of the rare congenital anomaly of urogenital tract. In this case report, uretheral atresia diagnosed antenatally by ultrasonography (USG) at 24-25 weeks of gestation is presented. USG findings were confirmed by postmortem examination of the fetus. Key words: Lower urinary tract obstruction, posterior urethral valves, ultrasonography, urethral atresia, DOI: 10.3126/joim.v31i3.3001 Journal of Institute of Medicine, December, 2009; 31(3) 61-62

Identification of a 2244 base pair interstitial deletion within the human ESR1 gene in the Spanish population

Background:The ESR1 AGATA haplotype is composed of five markers located within introns 5 and 6 of the human oestrogen receptor 1 (ESR1) gene. This haplotype has been studied in several...

Management of infrarenal duplicated inferior vena cava during living related kidney transplantation

Congenital anomalies of the inferior vena cava (IVC) arerelatively rare pathologies, usually with an asymptomaticcourse.During open donor nephrectomy, we incidentallyfound two left infrarenal duplicated IVCs (Fig. 1):In the first case, left infrarenal IVC was sacrificed. Leftkidney was harvested with a normal length renal vein(Fig. 2a). The recipient had uneventful post-op course.Only mild edema was seen in his donor, around pelvisgirdle and proximal left thigh, persisting for 2 weeks.In second donor, we divided left renal vein more prox-imally with an acceptable short renal vein to preserve thecontinuity of left IVC (Fig. 2b). Both donor and recipienthad good renal function and no surgical complication onfollow-ups was seen.DiscussionCongenital anomalies of IVC are usually diagnosed bychance during surgery. From bioptic material their inci-dence has been estimated to be 2–3% [1]. The frequencyof accidental intraoperative finding in different series var-ies between 0.2% and 0.6%. Caval duplication and a leftpositioned vena cava are the most common incidentalanomalies [2]. They are known to be associated with var-ious urogenital tract anomalies such as horseshoe kidneysand circum-aortic renal collar [3,4].Nowadays, in many transplant centers, helical CT angi-ography and MR angiography have replaced conventionalangiography. They give a better view of the renal paren-chyma and the computer reconstruction shows the arter-ial anatomy as well. Ureteric and renal anomalies are alsoseen well with these methods; the accuracy is 95% andthey are quicker and cheaper [5].Up to now, few cases with complete duplication ofIVC have been reported to be found during live donornephrectomy (LDN) [6,7]. In previous literature, onlyone case with infrarenal duplicated IVC was found thatwas managed as the first case in this report [8]. They didnot mention any complication in post-op course. How-ever, as we mentioned earlier, due to ligation of left IVC,our first case suffered from edema. In complete duplica-ted IVC, usually each kidney drains to the ipsilateral IVCand nephrectomy has no effect on limb drainage. How-ever, infrarenal duplicated IVC is totally different, as ipsi-lateral limb drains partially or totally to renal vein andligation of this vein compromises drainage of limb, atleast early in post-op. So, it seems reasonable to take thesecond surgical technique.We advise to perform imaging technique in LDN. Ifthe donor has duplicated IVC, it is essential to carefullyconduct advance imaging techniques to investigate otherpossible anomalies and blood flow of the renal vein.Although it is preferred to use kidney with longer renalvein, the graft must be carefully selected so it is not dis-advantageous to the donor.Hamid Reza Davari, Seyed Ali Malek-Hosseini,Heshmatollah Salahi, Ali Bahador, Saman Nikeghbalian,

The Environment and Male Fertility: Recent Research on Emerging Chemicals and Semen Quality

Scientific and public concern about the potential risk of environmental chemicals to male reproductive health has been heightened by reports of downward trends in semen quality, as well as increased rates of developmental urogenital tract anomalies and testicular cancer. Of particular concern is whether some contemporary-use environmental chemicals alter semen quality. Specific toxicants of interest include phthalates and pesticides, as well as polychlorinated biphenyls (PCBs). The human data on the relationship of semen quality with phthalate and pesticide exposure are limited and do not currently allow for a definitive conclusion on whether adult exposure, at background environmental levels, alters semen quality. However, the epidemiologic data support an inverse association of PCBs with reduced semen quality, specifically reduced sperm motility. The associations found were generally consistent across studies despite a range of PCB levels. In addition to the chemicals discussed, there are additional classes of chemicals that require further study on their relation with human semen quality.

Cocaine and the kidney: A synthesis of pathophysiologic and clinical perspectives

Cocaine abuse has reached epidemic proportions in the United States, and several forms of renal disease have been associated with this widespread use. The hemodynamic actions of cocaine, as well as its effects on matrix synthesis, glomerular inflammation, and glomerulosclerosis, may contribute to renal injury. Cocaine abuse has been associated with various forms of acute renal failure and acid-base and/or electrolyte disorders and may also have a role in the progression of chronic renal failure to end-stage renal disease. In utero exposure to cocaine has been associated with urogenital tract anomalies. Medical management of a hypertensive emergency caused by acute cocaine toxicity requires a multisystem approach, with close monitoring of cardiac, neurological, and renal functions.

Uterus-like Mass of the Small Intestine

A 12-year-old girl with multiple lower-intestinal and urogenital tract anomalies and a past history of sacrococcygeal teratoma had an intramural mass of the ileum discovered as an incidental finding at surgery. The predominant mass had the features of the uterine fundus and two smaller contiguous nodules resembled the fallopian tube. A normal uterus and ovaries were observed at surgery. Somewhat similar lesions have been reported in the past in the ovary, ileum, scrotum, and possibly the bladder. Neither the metaplastic nor malformational theories are entirely satisfactory, yet they can be stated for most examples of heterotopias or choristomas.

Massive fetal ascites, urethral atresia, and cytomegalic inclusion disease.

Massive fetal ascites is unusual and, while having diverse mechanisms, is most frequently due to obstructive uropathy. A rare form of urinary tract obstruction, complete urethral atresia with complex urogenital tract anomalies, is anatomically documented in the following case report. In addition, concurrent cytomegalic inclusion disease, also rarely associated with fetal ascites, was present. Unlike the present case, some more common forms of neonatal urinary tract obstruction are amenable to surgical relief. For this reason, the level of obstruction is clinically important.