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Background and Objectives: On a local and national scale, genitourinary malformations (GUMs) are the second most encountered congenital anomaly in children. GUMs are linked to several risk factors, including maternal co-morbidities and insufficient folic acid. They may also be related to maternal health and care during pregnancy. Expanding our knowledge about these factors is necessary for the development of preventative measures, which could reduce GUM incidence. This study evaluated the local youth's understanding and perceptions of genitourinary anomalies. Materials and Methods: This cross-sectional, qualitative, anonymous, questionnaire-based study involved members of the local population, aged 18 years or over. Based on a 5% type I error rate (α = 0.05) and an 80% response rate, a sample size of 481 was determined. The questionnaire was completed by 902 people. The data were analyzed using SPSS version 25 (IBM). Results: Over half (57%) of respondents believed that hormonal therapy during pregnancy could increase GUM risk. Moreover, 46% thought that maternal chronic diseases could be another risk factor, while 43% believed that pregnancy-related conditions, such as pre-eclampsia, increased GUM risk. Women had higher odds of high perception scores than men, according to the univariate and multivariate analyses. Most participants (74%) strongly agreed that proper and ongoing prenatal follow-ups are necessary, 69% agreed that premarital medical check-ups are necessary, and 67% believed that optimal nutrition throughout pregnancy is necessary to reduce GUM risk. Conclusions: The results emphasize the necessity of developing healthcare strategies specifically designed to increase knowledge about GUMs and overcome incorrect community perceptions of risk factors that could also help improve attitudes towards prevention and ultimately reduce the incidence of GUMs. [ABSTRACT FROM AUTHOR]

Introduction: The failure of the normal ascent of the kidney can result in ectopic kidneys (EK) and fusion anomalies. EKs are often accompanied by urological and extrarenal abnormalities. This study aims to provide a comprehensive overview of EKs, associated renal and extrarenal anomalies, and kidney functions among patients with simple and cross ectopic kidneys. Materials and Methods: Clinical records of patients diagnosed with EK admitted to the pediatric nephrology unit between June 2017 and June 2022 were retrospectively evaluated. Results: In this study, 41.20% (n: 61) of patients had crossed ectopic (CE) kidneys. The most common type of crossed ectopia was inferior CE (n:33 56.9%). The most frequent presenting features were an empty renal fossa (7.40%, n: 11). During the first evaluation, 18.91% (n:28) of patients had hydronephrosis, most of which were mild (SFU 1-2). Vesicoureteric reflux (VUR) was evident in 7.4% of patients. The mean DMSA (dimercaptosuccinic acid) uptake was lower in EK (40.37±7.31) compared to orthotopic kidneys. Comparison of simple and CE kidneys showed similar results regarding the presence of hydronephrosis, vesicoureteral reflux (VUR), and differential function of EKs. In both groups, serum creatinine levels and estimated glomerular filtration rate (eGFR) were preserved. Conclusion: Patients with ectopic kidneys often present with renal and extrarenal anomalies. Although hydronephrosis is a common occurrence, it is usually mild and transient, and incidence of vesicoureteral reflux is low. Considering the preservation of renal function in mid-term period, it may be more appropriate to evaluate each patient's need for a complete urological examination on a case-by-case basis. [ABSTRACT FROM AUTHOR]

In adolescent gynaecology clinic, we can encounter conditions that solely occur at this specific time in development and that we otherwise do not come across in other aspects of our working life. Though a patient may present with a 'menstrual disorder', this may well be the first manifestation of an endocrine disease or underlying congenital abnormality. When caring for adolescent gynaecology patients, it is essential we are alert to these possibilities, equipped with the specific knowledge pertaining to this patient group and that we investigate diligently so as not to miss a potentially serious condition. This article comprises key learning points for important adolescent gynaecology conditions including genital tract anomalies such as Mayer-Rokitansky-Kuster-Hauser and OHVIRA (obstructed hemivagina, ipsilateral renal anomalies) syndromes, genetic conditions such as Turner's syndrome, endocrine disorders such as androgen insensitivity and congenital adrenal hyperplasia, as well as abnormal uterine bleeding, primary ovarian insufficiency and polycystic ovarian syndrome. [ABSTRACT FROM AUTHOR]

Background: Annually, 3-8 million infants are born with congenital anomalies worldwide, ranging from 3% to 7% of births in different countries. This study aimed to investigate the nationwide epidemiological features of birth defects in Iran. Methods: This cross-sectional study was conducted in six major regions across Iran. The data sources were the maternity facilities affiliated with regional universities of medical sciences. All children were examined by obstetricians, pediatricians, or midwives at birth, and newborns were followed until discharge from the facility for health status, maturity, and congenital defects. Results: A total of 138,643 births were registered in the maternity facilities across the study regions. Among these newborns, 3,458 cases were diagnosed with congenital anomalies, representing an overall prevalence rate of 249.4 per 10 000 births (95% CI: 241.2-257.8). Genital organ anomalies exhibited the highest rates of defects in the country with 92.7 per 10 000 births (95% CI: 86.4-98.9), followed by limb anomalies at 83.3 per 10 000 births (95% CI: 77.4-89.3). The prevalence of respiratory system, chromosomal, and urinary tract anomalies was less than 10 per 10 000 births. Conclusion: Until a national registry for congenital anomalies is established, this study provides essential data on the magnitude of the health problems caused by congenital anomalies in Iran. The findings would be vital for planning and evaluating antenatal screening for birth defects, particularly for high-risk groups and regions in the country. [ABSTRACT FROM AUTHOR]

Objective: To assess the changes in gene expression of activation- induced cytidine deaminase (AID) in COVID-19 patients and its relationship with the presence of autoantibodies in those ones. Methods: This retrospective study was carried out among COVID-19 patients' serum and peripheral blood mononuclear cells that were archived at the main COVID-19 referral centers in Iran from January to March 2022. The titer of autoantibodies in the serum of healthy and COVID-19 subjects was investigated by serological tests. Then, the AID gene expression in peripheral blood mononuclear cells in two groups was evaluated using the real-time polymerase chain reaction method. Results: 100 patients were included. In total, 8% and 1% of patients had a significant titer of anti-citruhinated protein antibody and antinuclear antibody autoantibodies, respectively, and those suffered from at least one comorbidity. No patient was positive for antiphospholipid autoantibody. Moreover, no significant changes were observed in the titer of autoantibodies between healthy subjects and patients. Furthermore, the increase in the expression of the AID gene was not significant in two groups. Conclusions: The presence of autoantibodies in COVID-19 patients might be linked to the previous underlying disease. [ABSTRACT FROM AUTHOR]

Background: Congenital anomalies of the kidney and urinary tract (CAKUT) represent a frequent cause of pediatric kidney failure. CNVs, as a major class of genomic variations, can also affect miRNA regions. Common CNV corresponding miRNAs (cCNV-miRNAs) are functional variants regulating crucial processes which could affect urinary system development. Thus, we hypothesize that cCNV-miRNAs are associated with CAKUT occurrence and its expressivity. Methods: The extraction and filtering of common CNVs, identified in control samples deposited in publicly available databases gnomAD v2.1 and dbVar, were coupled with mapping of miRNA sequences using UCSC Genome Browser. After verification of the mapped miRNAs using referent miRBase V22.1, prioritization of cCNV-miRNA candidates has been performed using bioinformatic annotation and literature research. Genotyping of miRNA gene copy numbers for MIR9-3, MIR511, and MIR1299, was conducted on 221 CAKUT patients and 192 controls using TaqMan™ technology. Results: We observed significantly different MIR9-3 and MIR1299 gene copy number distribution between CAKUT patients and controls (Chi-square, P = 0.006 and P = 0.0002, respectively), while difference of MIR511 copy number distribution showed nominal significance (Chi-square, P = 0.027). The counts of less and more than two of MIR1299 copy numbers were more frequent within CAKUT patients compared to controls (P = 0.01 and P = 0.008, respectively) and also in cohort of patients with anomalies of the urinary tract compared to controls (P = 0.016 and P = 0.003, respectively). Conclusions: Copy number variations of miRNA genes represent a novel avenue in clarification of the inheritance complexity in CAKUT and provide potential evidence about the association of common genetic variation with CAKUT phenotypes. [ABSTRACT FROM AUTHOR]

Haematuria and proteinuria are common findings on urinalysis in childhood. They usually occur in either children with specific symptoms e.g. macroscopic haematuria or nephrotic syndrome, or in those who have non-specific symptoms (usually when looking to exclude urinary tract infection) and sometimes in asymptomatic children. The majority of children fall into the latter two groups, the finding is temporary and not associated with long term renal disease. If the finding is persistent or patients have specific clinical features then renal abnormalities are more frequent and appropriate investigation is required. This review provides a rationale for an approach that allows reassurance to be given to children and their families in whom the finding is transient and benign, whilst identifying those in whom renal abnormalities are present and treatment required. It describes algorithms for macroscopic haematuria (MaH), asymptomatic microscopic haematuria (MiH) and proteinuria. [ABSTRACT FROM AUTHOR]

Introduction: Toxoplasmosis is a parasitism transmitted by Toxoplasma gondii, part of the TORCH complex, the most prevalent parasitism worldwide. It is asymptomatic in immunocompetent individuals but causes severe infections and developmental abnormalities in pregnant women, mainly affecting the central nervous system and the gastrointestinal system. Methods: In our prospective study, we analyzed cases of recent maternal Toxoplasma infections confirmed by serological testing between 1996 and 2020 at the Department of Obstetrics and Gynecology, Semmelweis University. Amniocentesis, followed by PCR, was performed in cases of recent infection confirmed by serological testing during pregnancy. After birth, a neonatological, microbiological, pediatric neurological and ophthalmological examination and a follow-up was carried out. Results: During the study period, a total of 238 cases of amniotic fluid Toxoplasma PCR testing due to Toxoplasma recent infection were performed. In terms of pregnancies, there were 219 deliveries and seven abortions. Twelve cases had no data available on the outcome of the pregnancy. In total, 133 cases of ultrasound abnormalities were detected during pregnancy, while in 105 cases, no abnormalities were detected on ultrasound examination. During amniocentesis, eight cases of Toxoplasma infection were revealed in amniotic fluid samples by PCR, and in 230 cases, the result was negative. Neonatal follow-up was performed in 139 cases, with no abnormalities during follow-up in 117 cases, and in 22 cases, there was a detectable complication that was likely to be related to Toxoplasma infection. In all 22 cases, amniotic fluid PCR Toxoplasma testing was negative. Conclusions: The most common ultrasound abnormalities involve the nervous system and the gastrointestinal system. In cases of suspicion, it is recommended to perform amniocentesis Toxoplasma PCR testing besides the indirect methods to help the pregnant woman decide whether to carry the pregnancy to term. During follow-up, a multidisciplinary team experienced in pregnancies complicated by toxoplasmosis must carry out the follow-up, care and subsequent development. [ABSTRACT FROM AUTHOR]

Objective: In Uganda, ∼2% of women have had urogenital fistulae. Given that ureteric involvement makes surgical repair more complex, this research was conducted to identify the risk factors for ureteric involvement when evaluating women who have urogenital fistulae to prepare better for surgical planning and counseling. Materials and Methods: This was a retrospective cohort study of women who underwent urogenital fistula repair at Kitovu Mission Hospital in Masaka, Uganda. Results: Of 546 patients with urogenital fistula, 50 (9.2%) had ureteric involvement. Those with ureteric involvement had statistically significantly higher parity (p < 0.0001) and shorter labor duration, compared with patients without ureteric involvement (p = 0.003); and had undergone prior non-fistula operations, compared to patients without ureteric involvement (p = 0.025). Delivery type distribution was significantly different between groups (p = 0.016) with higher rates of cesarean delivery and cesarean hysterectomy in women with ureteric involvement, compared to women without ureteric involvement (73.9% and 13% versus 61.4% and 5.8%). Goh classification of scarring was statistically significant between the groups (p = 0.013). Conclusions: Potential risk factors for ureteric involvement, include higher parity, shorter duration of labor, and history of cesarean or cesarean hysterectomy. There is also a trend toward Goh classification 1aiii. These factors can be used to stratify patients' risk preoperatively and assist surgical planning, especially in resource-limited settings. (J GYNECOL SURG 20XX:000) [ABSTRACT FROM AUTHOR]

Background/Objectives: Congenital anomalies of the kidney and urinary tract (CAKUT) are the main cause of chronic kidney disease (CKD) requiring renal replacement therapy (RRT) in children, being the leading cause (50–70%) of end-stage renal disease (ESRD) in children and young adults. Our study aimed to assess the natural evolution of various antenatally diagnosed renal malformations and to identify potential prognostic factors to guide the therapeutic management of patients with CAKUT. Methods: We conducted a retrospective study on 205 children with CAKUT. For each patient, analyzing their medical records, we established the nadir value of serum creatinine, defined as the lowest creatinine level during the first year of life. We assessed the value of nadir creatinine as a prognostic marker in patients with CAKUT, and using an ROC curve, we also determined a threshold value of nadir creatinine that predicted progression to ESRD. Results: The male-to-female ratio was 2.8 to 1. The mean gestational age at detection was 29.85 weeks (±6.71). A total of 36 patients (17.6%) had impaired renal function, of which 8 (3.9% of the total) progressed to ESRD. The mean nadir creatinine in patients with ESRD was 1.39 mg/dL. A nadir creatinine cut-off of 0.98 mg/dL had high sensitivity and specificity in identifying patients with progression to ESRD, with an AUC of 0.95 and a 95% confidence interval between 0.86 and 1.05 mg/dL. Conclusions: Our results support the value of nadir creatinine in predicting progression to ESRD, consistent with previously published data. [ABSTRACT FROM AUTHOR]

Background: Congenital anomalies of the kidney and urinary tract (CAKUT) represent 20–30% of all birth defects and are often associated with extra-renal malformations. We investigated the frequency of brain/spine malformations and neurological features in children with CAKUT. Methods: We reviewed the clinico-radiological and genetic data of 199 out of 1,165 children with CAKUT evaluated from 2006 to 2023 (99 males, mean age at MRI 6.4 years) who underwent brain and/or spine MRI. Patients were grouped according to the type of CAKUT (CAKUT-K involving the kidney and CAKUT-H involving the inferior urinary tract). Group comparisons were performed using χ2 and Fisher exact tests. Results: Brain/spine malformations were observed in 101/199 subjects (50.7%), 8.6% (101/1165) of our CAKUT population, including midbrain-hindbrain anomalies (40/158, 25.3%), commissural malformations (36/158, 22.7%), malformation of cortical development (23/158, 14.5%), Chiari I anomaly (12/199, 6%), cranio-cervical junction malformations (12/199, 6%), vertebral defects (46/94, 48.9%), caudal regression syndrome (29/94, 30.8%), and other spinal dysraphisms (13/94, 13.8%). Brain/spine malformations were more frequent in the CAKUT-K group (62.4%, p < 0.001). Sixty-two subjects (62/199, 31.2%) had developmental delay/intellectual disability. Neurological examination was abnormal in 40/199 (20.1%). Seizures and/or electroencephalographic anomalies were reported in 28/199 (14%) and behavior problems in 19/199 subjects (9%). Developmental delay/intellectual disability was more frequent in kidney dysplasia (65.2%) and agenesis (40.7%) (p = 0.001). Conclusions: We report a relative high frequency of brain/spine malformations and neurodevelopmental disorders in children with CAKUT who underwent MRI examinations in a tertiary referral center, widening the spectrum of anomalies associated with this condition. [ABSTRACT FROM AUTHOR]

Introduction: Reconstruction of a cloacal defect in a girl is often difficult and complicated.[1] This is most often done either by the sacro-perineal route or through the posterior sagittal route.[2] The procedures may involve total mobilization of the cloaca with or without the creation of a lower vagina with the help of a loop of vascularized bowel.[3] In our approach, such defects can be corrected using the lower anorectum for the creation of a lower vagina and abdominoperineal pull-through of the proximal divided bowel. This method can be used both in short and long common channel cloaca. Materials and Methods: We have used this procedure in one patient of posterior cloaca and four patients of anterior cloaca. These operations were done in patients of 1 year and 6 months to 4 years. Only one patient is waiting for the closure of the colostomy. Results: In all the cases, the urethra, the vagina, and the anus were successfully separated. Conclusion: This operation restores normal pelvic anatomy and physiology with minimal mutilation of the pelvic floor. [ABSTRACT FROM AUTHOR]

Background: The prevalence of Müllerian anomalies (MA) among patients with congenital solitary functioning kidney (SFK) is not well defined. A delay in diagnosis of obstructive MA can increase the risk of poor clinical outcomes. This study describes the prevalence of MA in patients with congenital SFK. Methods: A retrospective review was performed of patients within the Nationwide Children's Hospital system with ICD9 or ICD10 diagnostic codes for congenital SFK defined as either unilateral renal agenesis (URA) or multicystic dysplastic kidney (MCDK) and confirmed by chart review. Patients with complex urogenital pathology were excluded. Renal anomaly, MA, reason for and type of pelvic evaluation, and age of diagnosis of anomalies were evaluated. Results: Congenital SFK occurred in 431 girls due to URA (209) or MCDK (222). Pelvic evaluation, most commonly by ultrasound for evaluation of abdominal pain or dysmenorrhea, occurred in 115 patients leading to MA diagnosis in 60 instances. Among 221 patients ages 10 years and older, 104 underwent pelvic evaluation and 52 were diagnosed with an MA of which 20 were obstructive. Isolated uterine or combined uterine and vaginal anomalies were the most common MA. MA were five-fold more common in patients with URA compared to MCDK. In 75% of patients, the SFK was diagnosed prior to the MA. Conclusions: The prevalence of MA in patients with congenital SFK was 24% among those age 10 years or older, and 38% were obstructive. This justifies routine screening pelvic ultrasound in girls with congenital SFK to improve early diagnosis. [ABSTRACT FROM AUTHOR]

Objective: To evaluate the effect of the mean platelet volume (MPV), on the short-term prognosis and bleeding complications of acute ischemic stroke patients who underwent intravenous tissue plasminogen activator (IV-tPA) treatment. Patients and Methods: Between 01.01.2018 and 01.06.2021, 314 ischemic stroke patients who applied to our clinic with acute neurological deficit were included in the study retrospectively. Alteplase was administered as IV-tPA treatment for 1 hour. MPV value was measured before the treatment and was evaluated as the main parameter. The patients were examined under 4 groups (≤8.8fL, >8.8 - ≤9.9, >9.9-≤10.8, >10.8fL) according to their MPV values, and age, gender, comorbidities, and treatment initiation parameters were standardized by statistical methods. It was compared whether there was a significant difference between the MPV groups in terms of short-term prognosis according to the admission National Institutes of Health Stroke Scale (NIHSS) scores and discharge NIHSS scores and also bleeding complications. Results: A total of 314 patients, 145 women with a mean age of 76.7±13.0, and 169 men with a mean age of 66.3±13.1, were included in the study. 31 patients (9.9%) died before discharge. The mean MPV value was 9.64±1.15fL and the mean NIHSS score was 9.1±4.9 at admission, and the mean NIHSS score was 4.3±4.7 at discharge. When the NIHSS difference between admission and discharge was compared in the 4 groups, it was found that the prognosis was better in Group 3 with MPV >9.9-≤10.8 compared to Groups 1 and 4. (p=0.002; p<0.01). Despite this, it was seen that low or high MPV values could not be considered as a prognostic factor alone in patients who received IV-tPA treatment, since, there was no significant difference between the 3rd group and the 2nd group in terms of NIHSS decrease and the 4th group had a worse prognosis than the 3rd group. There was no statistical significance between MPV groups in terms of hemorrhage complications (p value for intracerebral, gastrointestinal, urogenital hemorrhage complications were 0.540, 0.980, 0.783, respectively). Conclusion: In our study, it was revealed that MPV value, is not an independent risk factor in patients with acute ischemic stroke receiving IV-tPA treatment and cannot be used as a prognostic marker. [ABSTRACT FROM AUTHOR]

Cloacal exstrophy is the most severe congenital anomaly of the exstrophy–epispadias complex and is characterized by gastrointestinal, genitourinary, neurospinal, and musculoskeletal malformations. Individualized surgical reconstruction by a multidisciplinary team is required for these complex patients. Not infrequently, patients need staged surgical procedures throughout childhood and adolescence. Following significant improvements in medical care and surgical reconstructive techniques, nearly all patients with cloacal exstrophy now survive, leading to an increased emphasis on quality of life. Increased attention is given to gender identity and the implications of reconstructive decisions. Long-term sequelae of cloacal exstrophy, including functional continence and sexual dysfunction, are recognized, and many patients require ongoing complex care into adulthood. [ABSTRACT FROM AUTHOR]

Introduction: The uterine cavity is a potential space with limited methods for evaluating its volume, limiting the evaluation of interventions' effectiveness in various uterine conditions. This study aims to objectively measure the uterine cavity volume using sonohysterography coupled with a Foley catheter to provide a normative model of age and parity-related uterine cavity volume. Methods: The research included 35 women (group 1) with a total abdominal hysterectomy and 150 women (group 2) who underwent sonohysterography for various gynecologic indications. Saline infusion sonography was administered to all patients. The most common shape obtained after the saline infusion was taken to measure the uterine cavity's dimensions and volume. The uterine cavity volumes, as measured by sonohysterography, and the volumes of saline injected after the hysterectomy were compared. Results: A significant association exists between uterine cavity volumes measured by sonohysterography and true volumes measured immediately after hysterectomy (p = 0.001). The association between uterine cavity volume measured by sonohysterography and using only a Foley catheter balloon was statistically insignificant (p = 0.13). A statistically significant positive association was observed between the uterine cavity volume and the patient's age and parity (p ⩽ 0.05). Conclusion: Measuring the uterine cavity volume using a paediatric Foley catheter balloon coupled with sonohysterography offers an objective approach to measuring a normal (without gross pathologies) uterus volume. This technique would improve the diagnostic accuracy and the management of women with distinct uterine cavity morphologies. [ABSTRACT FROM AUTHOR]

Background: Reviews on Down syndrome do not or only marginally address the issue of kidney and urogenital tract abnormalities, and lower urinary tract dysfunctions. Hence, we performed a meta-analysis of the literature. Methods: A literature search was undertaken in the Library of Medicine, Web of Science and Excerpta Medica. The search algorithm combined various keywords: (Down syndrome OR trisomy 21 OR mongolism) AND (kidney OR urinary tract OR bladder) AND (malformation OR dysfunction OR anomaly OR abnormality OR size). The Preferred Reporting Items for Systematic Reviews and Meta-Analyses statement was used. Results: Eight case-control studies were retained for the final analysis. Three studies addressed the prevalence of kidney and urogenital tract abnormalities: an increased pooled relative risk of 5.49 (95%-CI: 1.78–16.93) was observed in Down syndrome. Penile malformations, obstructive malformations (including urethral valves), dilated urinary tract system, and kidney hypodysplasia were especially common. Three reports addressed the prevalence of lower urinary tract dysfunction: an increased pooled relative risk of 2.95 (95%-CI: 1.15–7.56) was observed. Finally, an autoptic study and an ultrasound study disclosed a reduced kidney size in Down syndrome. Conclusions: This meta-analysis indicates that abnormalities of the kidney and urogenital tract, lower urinary tract dysfunctions, and a reduced kidney size present with an increased frequency in individuals with Down syndrome. [ABSTRACT FROM AUTHOR]

Background: Congenital anomalies of the kidney and urinary tract (CAKUT) are the most common cause of childhood chronic kidney disease (CKD). We hypothesized that hypertension varies across CAKUT categories and increases the risk of CKD. Methods: This was a retrospective cohort study and included cases with a multicystic dysplastic kidney (MCDK, n = 81), unilateral kidney agenesis (UKA, n = 47), kidney hypoplasia (KH, n = 130), and posterior urethral valves (PUV, n = 75). Hypertension was defined as systolic or diastolic blood pressure ≥ 95th percentile for age, sex and height, and CKD as an estimated glomerular filtration rate < 60 ml/min/1.73 m2, both at 2 consecutive clinic visits at least 3 months apart. Results: Sixty-two (19%) out of 333 cases developed hypertension, with significant difference according to CAKUT type. Patients with smaller kidney size (7.7 vs. 8.3, p = 0.045), kidney anomalies in addition to the primary diagnosis (aCAKUT) (53 vs. 38%, p = 0.03), proteinuria (46 vs. 12%, p < 0.001), and CKD (51 vs. 23%, p < 0.001) were more likely to develop hypertension. When adjusted for kidney size, the diagnoses of PUV (OR 10.9, 95%CI 3.0, 40.5), UKA (OR 6.4, 95%CI 1.6, 24.9) and KH (OR 4.2, 95%CI 1.1, 16.1), and aCAKUT (OR 2.1, 95%CI 1.2, 3.9) were independent risk factors for hypertension. Hypertension increased the risk of developing CKD by twofold (HR 1.9, 95%CI 1.19, 2.94). Conclusion: Hypertension is common in children with CAKUT and increases the risk of CKD. These findings will aid in the development of a standardized clinical pathway for the care of hypertensive children with CAKUT. [ABSTRACT FROM AUTHOR]

Congenital anomalies of the kidney and urinary tract are collectively one of the most commonly diagnosed antenatal conditions. Clinicians have several tools available to diagnose anomalies, including imaging, biomarkers, family history and genetic studies. In certain cases, antenatal interventions such as vesico-amniotic shunting may be considered to improve postnatal outcomes. Congenital kidney anomalies detected antenatally can vary in clinical significance from almost no impact postnatally to significant morbidity and perinatal mortality. Prognosis broadly depends on kidney size, structure and amount of amniotic fluid, alongside genetics and family history, and progression on subsequent scans. It is important to counsel parents appropriately using a parent-focused and personalised approach. The use of a multidisciplinary team should always be considered. [ABSTRACT FROM AUTHOR]

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Background: Phelan-McDermid syndrome (PMS) is a rare genetic disorder caused by SHANK3 pathogenic variants or chromosomal rearrangements affecting the chromosome 22q13 region. Previous research found that kidney disorders, primarily congenital anomalies of the kidney and urinary tract, are common in people with PMS, yet research into candidate genes has been hampered by small study sizes and lack of attention to these problems. Methods: We used a cohort of 357 people from the Phelan-McDermid Syndrome Foundation International Registry to investigate the prevalence of kidney disorders in PMS using a cross-sectional design and to identify 22q13 genes contributing to these disorders. Results: Kidney disorders reported included vesicoureteral reflux (n = 37), hydronephrosis (n = 36), dysplastic kidneys (n = 19), increased kidney size (n = 19), polycystic kidneys (15 cases), and kidney stones (n = 4). Out of 315 subjects with a 22q13 deletion, 101 (32%) had at least one kidney disorder, while only one out of 42 (2%) individuals with a SHANK3 pathogenic variant had a kidney disorder (increased kidney size). We identified two genomic regions that were significantly associated with having a kidney disorder with the peak associations observed near positions approximately 5 Mb and 400 Kb from the telomere. Conclusions: The candidate genes for kidney disorders include FBLN1, WNT7B, UPK3A, CELSR1, and PLXNB2. This study demonstrates the utility of patient registries for uncovering genetic contributions to rare diseases. Future work should focus on functional studies for these genes to assess their potential pathogenic contribution to the different subsets of kidney disorders. [ABSTRACT FROM AUTHOR]

Abdominal emergencies in cancer patients encompass a wide spectrum of oncologic conditions caused directly by malignancies, paraneoplastic syndromes, reactions to the chemotherapy or often represent the first clinical manifestation of an unknown malignancy. Not rarely, clinical symptoms are the tip of an iceberg. In this scenario, the radiologist is asked to exclude the cause responsible for the patient's symptoms, to suggest the best way to manage and to rule out the underlying malignancy. In this article, we discuss some of the most common abdominal oncological emergencies that may be encountered in an emergency department. [ABSTRACT FROM AUTHOR]

Objective The aim of the study is to estimate the association between arcuate uterus and pregnancy outcomes using controls selected from a similarly high-risk cohort. Study Design This is a retrospective cohort study of women with an arcuate uterus cared for by a single maternal–fetal medicine practice from 2005 to 2020. We included all women with a singleton pregnancy ≥20 weeks and diagnosis of arcuate uterus and randomly selected (3:1) patients with a singleton pregnancy and no uterine anomaly from the same practice as controls. Baseline characteristics and pregnancy outcomes were compared between the two groups. Chi-square, Fisher's exact, and independent samples t -test were used for data analysis, as indicated. Results A total of 37 women with an arcuate uterus (55 independent singleton pregnancies) and 165 controls were included. There were no differences in baseline characteristics. Women with an arcuate uterus had a significantly higher rate of spontaneous preterm birth less than 37 weeks (10.9 vs. 3.0%, p = 0.031) and were more likely to require vaginal progesterone (5.5 vs. 0.6%, p = 0.049) and administration of antenatal corticosteroids (16.4 vs. 5.5%, p = 0.020). Arcuate uterus was also associated with lower birthweight (3,028.1 ± 528.0 vs. 3257.2 ± 579.9 g, p = 0.010) and higher incidence of intrauterine fetal growth restriction (20.0 vs. 7.3%, p = 0.008), despite similar starting body mass index (BMI) and weight gain throughout pregnancy. There were no differences in preeclampsia, malpresentation, cesarean delivery, blood transfusion, retained placenta, or morbidly adherent placenta. Conclusion Arcuate uterus is associated with a significantly increased risk of spontaneous preterm birth (<37 weeks), need for vaginal progesterone for short cervix and antenatal corticosteroids, fetal growth restriction, and lower mean birthweight. These findings suggest that arcuate uterus is not just a normal variant of uterine anatomy but rather a risk factor for poor fetal growth, short cervix, and a higher risk pregnancy. Key Points Arcuate uterus is associated with increased risk of preterm birth and fetal growth restriction. Women with arcuate uteri had higher rates of vaginal progesterone use during pregnancy. Arcuate uterus should be treated as a true finding rather than a normal anatomical variant. [ABSTRACT FROM AUTHOR]

A neonate born of third-degree consanguineous marriage presented on day 12 of life with congestive cardiac failure. A male sibling died at 3 months of age, cause of which was not known. He was treated with decongestive measures and multiple inotropes. 2D Echocardiogram revealed severe Left ventricular dysfunction with prominent trabeculations and deep recesses in the left ventricle suggestive of Left ventricular non-compaction. He was also found to have horse-shoe kidney. Considering the presence of cardiac left ventricular non compaction, horse-shoe kidney and family history of neonatal death and pregnancy loss clinical exome sequencing was done. It detected a homozygous missense variant in exon 6 of the AGK gene suggestive of Senger's syndrome. Baby was on regular follow-up and was thriving well on diuretics, sacubitril-valsartan and weekly levosimendan infusions. At 8 months of age, cardiac transplantation was successfully done and baby has been doing well posttransplantation. LVNC in children is rare with an estimated incidence of 0.11 per 100,000, the highest incidence being during infancy. Senger's syndrome is autosomal recessive in inheritance. Senger's syndrome associated with Left ventricular non compaction has been reported only once in literature so far. Renal manifestations in the form of horse shoe kidney like in our index baby has not been reported previously with Senger's syndrome. [ABSTRACT FROM AUTHOR]

Aim: The concept of regaining childbearing ability via uterus transplantation (UTx) motivates many infertile women to pursue giving birth to their own children. This article provides insight into maternal and neonatal outcomes of the procedure globally and facilitates quality of care in related medical fields. Methods: The authors searched ISI Web of Science, MEDLINE, non‐PubMed‐indexed journals, and common search engines to identify peer‐review publications and unpublished sources in scientific reference databases. Results: The feasibility of the procedure has been proven with 46 healthy children in 88 procedures so far. Success relies upon dedicated teamwork involving transplantation surgery, obstetrics and reproductive medicine, neonatology, pediatrics, psychology, and bioethics. However, challenges exist owing to donor, recipient, and fetus. Fetal growth in genetically foreign uterine allograft with altered feto‐maternal interface and vascular anatomy, immunosuppressive exposure, lack of graft innervation leading to "unable‐to‐feel" uterine contractions and conception via assisted reproductive technology create notable risks during pregnancy. Significant portion of women are complicated by at least one or more obstetric problems. Preeclampsia, gestational hypertension and diabetes mellitus, elevated kidney indices, and preterm delivery are common complications. Conclusions: UTx has short‐ and long‐term satisfying outcome. Advancements in the post‐transplant management would undoubtedly lead this experimental procedure into mainstream clinical practice in the near future. However, both women and children of UTx need special consideration due to prematurity‐related neonatal problems and the long‐term effects of transplant pregnancy. Notable health risks for the recipient and fetus should be discussed with potential candidates for UTx. [ABSTRACT FROM AUTHOR]

The article discusses müllerian duct anomalies (MDAs), a spectrum of congenital disorders in the müllerian ducts which are the early embryologic structures that develop into the uterus, cervix, upper vagina and fallopian tubes. Topics discussed include the epidemiology of MDAs, the classification system for MDAs, and imaging technologies for detecting MDAs including hysterosalpingography, sonography and magnetic resonance imaging.

Recent advances in surgical technology and innovative techniques have revolutionized surgical gynecology, including transcervical hysteroscopic procedures. Surgical lasers (Nd-Yag, Argon, diode, and CO2 lasers) have been promoted to remove a variety of gynecological pathologies. For hysteroscopic surgery, the diode laser represents the most versatile and feasible innovation, with simultaneous cut and coagulate action, providing improved hemostasis compared with CO2 laser. The newest diode laser devices exhibit increased power and a dual wavelength, to work precisely with reduced thermal dispersion and minimal damage to surrounding tissues. Their efficacy and safety have been validated both in the hospitals as well as in the office setting. Updated evidence reports that several hysteroscopic procedures, including endometrial polypectomies, myomectomies and metroplasties can be successfully performed with a diode laser. Therefore, this review aimed to give a deeper understanding of the role of laser energy in gynecology and subsequently in hysteroscopy in order to safely incorporate this technology into clinical practice. [ABSTRACT FROM AUTHOR]

Objectives: Single umbilical artery (SUA) is considered the most common abnormality of the umbilical artery. The objective of the study was to evaluate the perinatal prognosis of fetuses with SUA and to describe the associated malformations. The significance of the study is represented by examining whether our findings are in correlation with data already described. Methods: We performed a prospective cohort study on singleton pregnancies complicated with SUA. The study population was composed of women with singleton pregnancies who were examined at the Department of Obstetrics and Gynecology of the Târgu Mures County Emergency Clinical Hospital between 2012 and 2021. Results: The incidence of SUA in the study population was 0.48%. C-section was performed in 40 cases with SUA and in 5258 cases with no SUA (RR:1.56, P<0.05.) From the total number of 2249 premature deliveries, 23 newborns were diagnosed with SUA (RR:2.12, P<0.05.) From the total number of 869 deliveries with low birth weight (LBW) newborns, 13 were associated with SUA (RR: 3.12, P<0.05.) There were 206 pregnancies noted with antenatal fetal demise after 24 weeks of gestation, and only 2 of them were with SUA (RR:2.01, P>0.05.) Fetal and neonatal malformations were described in 290 cases, and 28 were associated with SUA (R:21.96, P<0.05.) In 57 of 85 cases (67.05%), we found iSUA, and 28 newborns (32.95%) had minor, major, or other associated pathologies. We found two cases of trisomy 18 and one case with trisomy 13 associated with SUA. Investigating the malformations associated with SUA, the most common were cardiac and great vessels malformations (12), followed by limb malformations (8), urogenital malformations (7), digestive tract malformations (7), central nervous system malformations (4), and in one case we found cleft palate. Conclusions: Perinatal prognosis regarding SUA is significantly poorer than in cases without this pathology. One-third of fetuses with SUA were associated with fetal anomalies. The most common pathologies associated with SUA were cardiovascular, limb, urogenital, and digestive system malformations. Our data are similar to those described in other studies; therefore, we conclude, we can implement the general recommendations in our region regarding counselling patients. [ABSTRACT FROM AUTHOR]

Diphallia (penile duplication) is a rare congenital malformation with an incidence of about 1 per 5–6 million newborns. The severity of diphallia varies from a small accessory penile-like tissue to complete true penile duplication with other deformities, usually involving the urogenital, gastrointestinal, and musculoskeletal systems. Pseudodiphallia, as a rare kind of diphallia, is characterized by a small accessory penile-like tissue without a normal penile anatomy structure. A 5.5-year-old male child was brought to the pediatric surgery outpatient department by the parents with complaint of difficulty in retracting the prepucial foreskin and the presence of some growth near the glans. There were no other complaints in specific. Clinical examination revealed foreskin retractable with difficulty and small conical lump smaller than the original glans approximately size ~1 cm diameter at the base attached horizontally at the left side of the original glans at the coronal sulcus and visible incomplete clefting in between the 2 glans visible from the aerial view. After approval from anesthetist, the patient was operated under general anesthesia by excision of pseudodiphallia. Urethral catheterization and circumcision of the penis after taking informed parental consent. Postoperatively, the period was uneventful. The patient responded well to the symptomatic treatment and was orally allowed on the same day evening. Urinary catheter was removed on 5th postoperative day. The patient was discharged on oral symptomatic medication and was advice for follow-up. [ABSTRACT FROM AUTHOR]

The article presents the case study of 26-month-old girl with rapid growth, clitoromegaly, and abnormal laboratory findings. Topics include biochemical profile did not indicate congenital adrenal hyperplasia (CAH) and that an endocrine referral was not needed; and physical examination revealed complete posterior labial fusion, a prominent clitoris, and a urogenital sinus.

Acquired rectourethral fistula (RUF) is a rare but major complication of posterior urethral valve ablation. We present a case of a 1-year-old boy managed in a staged manner by completion of posterior urethral valves ablation, colostomy, RUF division through anterior sagittal transanorectal approach, and stoma closure. The child is continent for urine and feces. [ABSTRACT FROM AUTHOR]

The article focuses on the under-screening and under-treatment of patients with sexually transmitted infections (STIs). It reports that insurance claims data revealed low rates of STI testing and treatment, particularly in cases of pelvic inflammatory disease (PID). It emphasizes improved clinician communication and sexual history discussions to improve prevention efforts and raises concerns about STI surveillance and funding implications.

Background: Robot-assisted pyeloplasty is widely used in pediatric surgery because of its well-known advantages over open or laparoscopic surgery. The aim is to explore our experience and evaluate the achievements we have made. Methods: We evaluated patients undergoing robotic pyeloplasty from January 2016 to November 2021, including those who presented with a ureteropelvic junction obstruction associated with other anomalies of the kidney. The parameters examined were: age, weight, associated renal malformations, conversion rate, operative time, and intra- and postoperative complications. Results: Of 39 patients, 7 (20%) were included, of whom 5 (71%) were male and 2 (29%) were female. The mean age at surgery was 84 months (range 36–180 months), and the mean weight at surgery was 24.4 kg (range 11–40 kg). In five (71%) patients the ureteropelvic junction obstruction (UPJO) was left-sided and in two (29%) it was right-sided. In four (57%) cases, UPJO was associated with a horseshoe kidney, right-sided in one (25%) patient, and left-sided in the other three (75%). A 180° rotation of the kidney was present in one (14%) patient. Nephrolithiasis was present in two (29%) patients. The mean operative time was 160 min (range 140–240 min). The average bladder catheter dwell time was 1 day (range 2–3 days), while the average abdominal drainage dwell time was 2 days (range 2–4 days). The mean hospitalization time was 4 days (range 3–9 days). On average, after 45 days (range 30–65) the JJ ureteral stent was removed cystoscopically. No intraoperative complications were reported, while one case of persistent macrohematuria with anemia requiring blood transfusion occurred postoperatively. Conclusions: Ureteropelvic junction obstruction might be associated with other congenital urinary tract anomalies such as a duplicated collecting system, horseshoe kidney, or pelvic kidney. These kinds of malformations can complicate surgery and require more attention and accuracy from the surgeon. Our experience shows that, with regards to the robotic learning curve required for pyeloplasty, the treatment of the ureteropelvic junction in these situations does not present insurmountable difficulties nor is burdened by complications. The application of robot-assisted surgery in pediatric urology makes difficult pyeloplasties easier. [ABSTRACT FROM AUTHOR]

Females spend a third to half of their life in menopause, and the number of US females in menopause is growing. A high percentage of postmenopausal females experience bothersome, sometimes debilitating genitourinary symptoms, which can affect quality of life. The genitourinary syndrome of menopause (GSM) describes the condition previously referred to as vulvovaginal atrophy, atrophic vaginitis, or urogenital atrophy. Of concern, many patients with symptoms of GSM have never been asked about nor have they initiated conversations about these concerns with a healthcare provider. This article addresses the need to improve screening, identification, and patient-centered management in primary care of females with GSM. [ABSTRACT FROM AUTHOR]

Primary buried (BP) penis is describes as a small penis caused by a penile ligaments anomaly; it is unclear if a primary BP could reach a normal length. We selected 49 patients treated at our institution between 2015 and 2020 in order to post-operatively evaluate the SPL after one year. SPL was evaluated according to the PH Tanner staging system for pre-pubertal patients according to age-normalized values. A micropenis was detected if the SPL was below 2.5 SD. A normal SPL was found in thirty-two patients, eighteen were in PH Stage 1, four were in PH Stage 2, six were in PH Stage 3, and four were in PH Stage 5. Seventeen patients showed a reduced SPL; in seven of these (four in PH Stage 4 and three in PH Stage 5), their SPL was <2.5 ST. The difference in micropenis prevalence between the pre-pubertal and post-pubertal patients was significant (p = 0.038). A primary BP grows normally during the pre-pubertal period, where patients frequently showed a normal SPL, but it seems to be unable to reach a normal length in the higher PH stages, where the SPL is used to detect a micropenis. We suggest that a primary BP should be considered not as a simple defect of the penile ligaments and surrounding tissues, but as an incomplete manifestation of a micropenis due to a growth slowdown of the organ in late puberty. [ABSTRACT FROM AUTHOR]

Isolated urogenital sinus is a rare anomaly. These cases may have high confluence which adds complexity to surgical correction. There are controversies regarding timing and techniques of management. We present a case report on managing such a case in an infant with bladder outlet obstruction and pyocolpos. [ABSTRACT FROM AUTHOR]

The bilateral duplex system is extremely uncommon, and only a few cases have been documented in the literature. It may manifest as a bifid renal pelvis and partial or complete ureteric duplication, with or without ectopic insertion of the ureter. An ectopic ureter is more problematic when there is significant vesicoureteral reflux, incontinence, and/or blockage. The optimal course of treatment is considered to be ureteral reimplantation rather than heminephrectomy. We describe the management strategy for a case of bilateral duplex kidneys with bilateral ectopic ureters in a growing female child. [ABSTRACT FROM AUTHOR]

Background: Severe congenital anomalies of the kidney and urinary tract (CAKUT) progress to infantile kidney failure with replacement therapy (KFRT). Although prompt and precise prediction of kidney outcomes is important, early predictive factors for its progression remain incompletely defined. Methods: This retrospective cohort study included patients with CAKUT treated at 12 centers between 2009 and 2020. Patients with a maximum serum creatinine level ≤ 1.0 mg/dL during the first 3 days, patients who died of respiratory failure during the neonatal period, patients who progressed to KFRT within the first 3 days, and patients lacking sufficient data were excluded. Results: Of 2187 patients with CAKUT, 92 were finally analyzed. Twenty-five patients (27%) progressed to KFRT and 24 (26%) had stage 3–5 chronic kidney disease without replacement therapy during the median observation period of 52.0 (interquartile range, 22.0–87.8) months. Among these, 22 (24%) progressed to infantile KFRT. The kidney survival rate during the infantile period was significantly lower in patients with a maximum serum creatinine level during the first 3 days (Cr-day3-max) ≥ 2.5 mg/dL (21.8%) compared with those with a Cr-day3-max < 2.5 mg/dL (95.2%) (log-rank, P < 0.001). Multivariate analysis demonstrated Cr-day3-max (P < 0.001) and oligohydramnios (P = 0.025) were associated with higher risk of infantile KFRT. Eighty-two patients (89%) were alive at the last follow-up. Conclusions: Neonatal kidney function, including Cr-day3-max, was associated with kidney outcomes in patients with severe CAKUT. Aggressive therapy for severe CAKUT may have good long-term life outcomes through infantile dialysis and kidney transplantation. [ABSTRACT FROM AUTHOR]

Background: Congenital abdominal wall defects might be associated with other anomalies, such as atresia in gastroschisis and cardiac anomalies in omphalocele patients. However, in the current literature, an overview of these additional anomalies and potential patient-specific risk factors is missing. Therefore, we aimed to assess the prevalence of associated anomalies and their patient-specific risk factors in patients with gastroschisis and omphalocele. Methods: A mono-center retrospective cohort study between 1997 and 2023 was performed. Outcomes were the presence of any additional anomalies. Risk factors were analyzed via logistic regression analysis. Results: In total, 122 patients were included, of whom 82 (67.2%) had gastroschisis, and 40 (32.8%) had omphalocele. Additional anomalies were identified in 26 gastroschisis patients (31.7%) and in 27 omphalocele patients (67.5%). In patients with gastroschisis, intestinal anomalies were most identified (n = 13, 15.9%), whereas, in patients with omphalocele, cardiac anomalies were most identified (n = 15, 37.5%). Logistic regression showed that cardiac anomalies were associated with complex gastroschisis (OR: 8.5; CI-95%: 1.4–49.5). Conclusions: In patients with gastroschisis and omphalocele, intestinal and cardiac anomalies were most identified, respectively. Cardiac anomalies were found to be a risk factor for patients with complex gastroschisis. Therefore, regardless of the type of gastroschisis and/or omphalocele, postnatal cardiac screening remains important. [ABSTRACT FROM AUTHOR]

The article looks at some of the issues examined in the case of severe acute kidney injury and complex catheterization in a six-month-old female infant. Topics covered include the reasons for difficult catheterization in the clinical situation, the differential diagnosis of hydronephrosis in infants, and the causes of hyponatremia and hyperkalemia in the infant.

Abnormalities in cellular differentiation during embryo-fetal period may lead to various malformations of the spine. Caudal regression syndrome (CRS) is a group of defects with premature growth/development termination of the vertebral column. CRS can be divided into three types: sirenomelia, complete absence of the sacrum and partial absence of the sacrum. Genitourinary and gastrointestinal anomalies are common, with neurogenic bladder and bowel incontinence. Treatment of patients with CRS is complex and multidisciplinary and should be comprehensive. The most common orthopedic problems are: spinal deformity (kyphosis and scoliosis), spinopelvic instability and lower limbs deformities. [ABSTRACT FROM AUTHOR]

Scrotum shows multiple congenital anomalies which could be explained by embryological abnormalities in migration of labioscrotal swelling. Our case was a neonate who had an accessory scrotum in the pubic area at delivery which is a rare position. Ultrasound scan and voiding cystourethrography showed adequate capacity, shouldering and smooth outline with insignificant mild residual urine of bladder, and dilated posterior urethra. Magnetic resonance imaging revealed a pubic accessory scrotum with thickened skin and subcutaneous tissue with no detectable internal contents or pelvic connection; however, pelvicalyceal system was dilated suggesting pelviureteric junction obstruction. Excision of accessory scrotum was discussed with parents but they refused. Ultrasound follow-up of the associated congenital hydronephrosis revealed improvement of hydronephosis. [ABSTRACT FROM AUTHOR]

Women frequently suffer from urinary incontinence due to atrophic changes in the urogenital tract. Recommended conservative treatment includes evaluation of pelvic-floor strength and the functional use of pelvic-floor-muscle (PFM) training. Following the PRISMA 2020 guidelines, a search was conducted in the electronic databases PubMed, Web of Science, and Scopus for articles with at least one group performing PFM exercises in post-menopausal women with urinary incontinence. Eight articles were included, and each study had at least one group of PFM exercise-based intervention alone or combined. The volume or duration, frequency, and number of sessions were heterogeneous. All the studies reported significant differences in favor of PFM exercise in strength, quality of life, and/or severity of urinary incontinence. PFM exercise is a highly recommended intervention to treat urinary incontinence in postmenopausal women. However, more research is needed to establish specific factors such as dose–response relationships and to standardize methods for measuring effects. [ABSTRACT FROM AUTHOR]

Background: Zinner syndrome (ZS), the association of congenital seminal vesicle cyst (SVC) and ipsilateral kidney anomalies, is rarely diagnosed in childhood. This study aimed to assess presentation, imaging findings, management, and outcome of pediatric ZS. Methods: Sixteen children with ZS were diagnosed and managed at our hospital from 2003 to 2021. We reviewed the medical records to collect data on initial symptoms, results of imaging studies, complications, operation, and follow-up. Results: Ultrasound was used in all 16 cases as initial diagnostic tool. Fourteen patients were asymptomatic at diagnosis: these were transferred from obstetricians or pediatricians for evaluation of the prenatally or postnatally detected ultrasonic kidney anomalies. SVCs were incidentally noted on ultrasonography. The other two cases initially presented with urinary tract infection (UTI). Kidney anomalies included multicystic dysplastic kidney in 3 and kidney agenesis in 13 patients. Eleven (68.7%) patients had ipsilateral ectopic ureters entering SVC. Four (36.4%) patients had a reflux from urethra into SVC (urethro-cystic reflux) on voiding cystourethrography. Ten (62.5%) patients remained asymptomatic over a mean of 58 months (range, 7–216 months), two patients developed lower urinary tract dysfunction, and five patients had UTIs. Two boys needed SVC removal, and SVC had disappeared in two patients after 2.5–4 years of follow-up. Conclusions: Unilateral kidney hypodysplasia with ectopic ureter inserting into the ipsilateral SVC is a characteristic sign for diagnosis of ZS. In our case series, ZS was mainly asymptomatic. Urethro-cystic reflux was associated with UTIs in young infants. SVC removal was rarely required. A higher resolution version of the Graphical abstract is available as Supplementary information [ABSTRACT FROM AUTHOR]

Aim: Posterior cloacal malformations (PCMs) are distinguished from classical cloacal malformations by the posterior location of the common opening in the perineum. We aim to describe our experience of management of these rare and complex malformations. Methods: This study was a retrospective chart review of all patients with PCM who underwent treatment at Kalawati Saran Children's Hospital (KSCH), New Delhi, and Sanjay Gandhi Postgraduate Institute of Medical Sciences (SGPGIMS), Lucknow, between 2013 and 2021. Individual anatomical variations and their impact on the clinical presentation, management, and final outcome (cosmesis and function) were recorded and analyzed. Results: During the study period, four girls with a median age of 2 (range: 0–5) years presented to us with PCM. Three patients were referred to KSCH as ambiguous genitalia whereas one patient was born at SGPGIMS with an antenatal diagnosis of "urorectal septal defect." On examination, three patients had the urogenital sinus (UGS) opening immediately anterior to the normally located anal opening (2 orifices), whereas one had a single orifice at the normal location of the anus with the UGS opening in the anterior rectal wall. Associated anomalies included: (a) hydrocolpos (n = 3), which was managed by a tube vaginostomy; (b) urethral duplication with dorsal atretic urethra (n = 3); (c) uterine didelphys (n = 1); (d) bilateral grade 5 vesicoureteric reflux (n = 1); and (e) vaginal calculus (n = 1). Total urogenital mobilization (anterior sagittal approach) with feminizing genitoplasty was performed for patients with UGS and normal anus (n = 3). In the patient with a single opening at the normal location of the anus, posterior sagittal ano-recto-urethro-vaginoplasty was performed. At a median follow-up of 24 months, three patients are continent for urine and stool, whereas one patient is yet to be toilet trained. Conclusions: PCMs are unusual complex malformations that necessitate meticulous clinical examination, detailed diagnostic workup, and multistaged surgical management. Management should be tailored as per each individual patient's anatomy and clinical presentation for an optimal outcome. [ABSTRACT FROM AUTHOR]

Accessory scrotum is defined as extra scrotal tissue in the vicinity of the anatomically located normal scrotum. We report a case of 4-day full-term male neonate with a unilateral accessory scrotum. We have discussed clinical presentations and associated anomalies of an accessory scrotum thus guiding its evaluation and treatment. [ABSTRACT FROM AUTHOR]