Robot-Assisted Laparoscopic Ureterocalicostomy in the Setting of Ureteropelvic Junction Obstruction: A Multi-Institutional Cohort.

PURPOSE: Recurrent ureteropelvic junction obstruction (UPJO) after failed pyeloplasty is a complex surgical dilemma. The robot-assisted laparoscopic ureterocalicostomy (RALUC) is a potential surgical approach, but widespread adoption is limited due to the perceived technical challenge of the procedure. We present a multi-institutional pediatric cohort undergoing RALUC for recurrent or complex UPJO, and hypothesize that the procedure is reproducible, safe and efficacious. MATERIALS AND METHODS: A 3-center multi-institutional collaboration was initiated and medical records of children undergoing RALUC between 2012 and 2020 were retrospectively reviewed. The details on baseline demographics, perioperative characteristics and postoperative outcomes were aggregated. RESULTS: During the study period 24 patients, 7 (29%) females and 17 (71%) males, were identified. Of the patients 21 (86%) had a history of previous pyeloplasty prior to RALUC, of whom 5 (24%) had 2 prior failed ipsilateral pyeloplasties. The reason for performing RALUC was short ureter in 3 (13%), intrarenal pelvis in 5 (21%) and extensive scarring at the ureteropelvic junction locus in 16 (67%) patients. The median age of patients at time of surgery was 5.1 years (IQR: 1.9, 14.7). Of the patients 9 (38%) had percutaneous nephrostomy prior to surgery; if percutaneous nephrostomy tubes were placed for relief of obstruction, an antegrade contrast study was done postoperatively to confirm resolution of obstruction. No 30-day Clavien-Dindo Grade III-V complications were noted. During the median followup of 16.1 months (IQR: 6, 47.5), 22 (92%) had improved symptoms and hydronephrosis with no further intervention; 2 (8%) patients underwent endoscopic interventions after RALUC and both ultimately underwent nephrectomy. CONCLUSIONS: This multi-institutional cohort demonstrates that RALUC is a safe and efficacious salvage option for failed pyeloplasty or complex anatomy with an acceptable success profile, especially in cases of extensive scarring at the UPJO or an intrarenal pelvis.

Kidney failure in Bardet-Biedl syndrome.

The aim of this study was to explore kidney failure (KF) in Bardet-Biedl syndrome (BBS), focusing on high-risk gene variants, demographics, and morbidity. We employed the Clinical Registry Investigating BBS (CRIBBS) to identify 44 (7.2%) individuals with KF out of 607 subjects. Molecularly confirmed BBS was identified in 37 KF subjects and 364 CRIBBS registrants. KF was concomitant with recessive causal variants in 12 genes, with BBS10 the most predominant causal gene (26.6%), while disease penetrance was highest in SDCCAG8 (100%). Two truncating variants were present in 67.6% of KF cases. KF incidence was increased in genes not belonging to the BBSome or chaperonin-like genes (p < 0.001), including TTC21B, a new candidate BBS gene. Median age of KF was 12.5 years, with the vast majority of KF occurring by 30 years (86.3%). Females were disproportionately affected (77.3%). Diverse uropathies were identified, but were not more common in the KF group (p = 0.672). Kidney failure was evident in 11 of 15 (73.3%) deaths outside infancy. We conclude that KF poses a significant risk for premature morbidity in BBS. Risk factors for KF include female sex, truncating variants, and genes other than BBSome/chaperonin-like genes highlighting the value of comprehensive genetic investigation.

A de novo heterozygous HOXA11 variant in a patient with mesomelic dysplasia with urogenital abnormalities.

Mesomelic dysplasias are a genetically and clinically heterogeneous group of diseases with more than 10 types defined. This article presents an 18-year-old female patient with normal intelligence and a multisystem phenotype including disproportionate short stature, scoliosis, mesomelic limb shortening, radial bowing, short fourth to fifth metacarpals and metatarsals, fusions in the carpal/tarsal bones, operated pes equinovarus, primary amenorrhea, uterine hypoplasia, vesicoureteral reflux, and chronic kidney disease. Whole-exome sequencing revealed a de novo heterozygous c.881T>G (p.Met294Arg) variant in HOXA11 (NM_005523.6) gene. The variant was located in the homeodomain of HOXA11 and predicted to alter DNA-binding ability of the protein. In silico analyses indicated that the variant could promote the alterations in the protein-protein interaction. The possible functional effect of the variant was supposed as dominant-negative. Hoxa11-mutant mice have been reported to exhibit homeotic transformations in the thoracic and sacral vertebrae, zeugopodal phenotype in forelimb and hindlimb, and urogenital abnormalities. Although mice models were reported as mesomelic dysplasia and urogenital abnormalities (MDUGA), this phenotype has not yet been reported in humans. This was the first case with MDUGA putatively related to a de novo variant in HOXA11.

Diverse clinical manifestations and intrafamilial variability due to an inherited recurrent MYRF variant.

MYRF monoallelic variants have been described in syndromic forms characterized by cardiac-urogenital syndrome and isolated nanophthalmos with/without minor systemic manifestations. We describe a large family with a paternally inherited pathogenic variant in MYRF that manifested as congenital diaphragmatic hernia (CDH), cardiac and urogenital abnormalities, and/or nanophthalmos with significant intrafamilial variability.

Introduction of a modified single stage reconstruction technique of male penopubic epispadias.

OBJECTIVE: To represent the long-term outcomes of our modified single-stage technique for the reconstruction of isolated penopubic epispadias in male patients. PATIENTS AND METHODS: Data from 113 patients were obtained from bladder-exstrophy-epispadias database of our tertiary center. A total of seven boys with isolated penopubic epispadias with no prior history of surgery and any other anomaly underwent our modified surgical approach from February 1997 to September 2019. The mean ± SD age at surgery was 6.5 ± 2.4 years. Volitional voiding status and cosmetic appearance were evaluated at each follow-up interval. Postoperative follow-up was performed at quarterly intervals in the first year and once a year in subsequent years. RESULTS: The mean ± SD of follow-up was 8.5 ± 6 years. All boys who were incontinent achieved urinary control and the ability of normal transurethral micturition following the surgery. Four boys became completely dry, and the other three attained social dryness. Postoperative mean (SD) bladder capacity was significantly increased from 54.5 (11) to 124 (40.0) within 6 months, and to 194 (47.5) at 18 months after surgery. Dorsal curvature has been resolved in all cases, and no postoperative complications were noted except for surgical site infection in one patient treated with antibiotics and bilateral vesicourethral reflux resolved after injection of bulking agents. Four patients had normal erectile function and ejaculation, while the others have not reached puberty yet. Moreover, none of the patients developed urethrocutaneous fistula, stricture, or penile ischemia. CONCLUSION: The present findings suggest the safety and effectiveness of the combination of single-stage urethro-genitoplasty, bladder neck plication, and fat pad pedicled flap in management of boys with isolated penopubic epispadias that can lead to the achievement of urinary control, acceptable sexual function, and cosmetically satisfactory genitalia. Minimal morbidity, low complication rate, and promising outcomes are essential factors, supporting the notion of introducing this technique as a valid option for management of this entity.

Predicting factors of clinically significant urological anomalies after initial urinary tract infection among 2- to 24-month-old children.

AIM: To find more effective criteria to identify clinically significant urological anomalies after initial urinary tract infection among children. METHODS: Children aged 2-24 months with an initial urinary tract infection were consecutively recruited in a Japanese hospital from 2013 to 2019. Voiding cystourethrography, 99mTc dimercaptosuccinic acid scan and ultrasound were intended to perform for all cases. Clinically significant urological anomalies were defined as high-grade vesicoureteral reflux, obstructive and abnormal urinary tract lesions, need for surgical intervention, renal hypoplasia and scarring. Using classification and regression tree analysis, we sought the associated factors. We developed new criteria with these factors, retrospectively applied them to the original data, and calculated the sensitivity and specificity. RESULTS: One hundred sixty-seven patients were eligible, and 39 had clinically significant urological anomalies. Classification and regression tree analysis showed that the associated factors were non-E. coli infections, serum creatinine levels and ultrasound abnormalities. When the gold standards were performed on children with non-E. coli infections or serum creatinine levels ≥0.21 mg/dl, sensitivity and specificity were 0.82 and 0.68, respectively. CONCLUSION: The criteria including non-E. coli infections and high-normal or higher serum creatinine levels may efficiently predict clinically significant urological anomalies after initial urinary tract infections.

Comparing predictive values of carbohydrate antigen 19-9, neutrophil gelatinase-associated lipocalin, and kidney injury molecule-1 in 161 patients with ureteropelvic junction obstruction.

BACKGROUND: To evaluate and compare the efficacy of urinary carbohydrate antigen 19-9 (CA19-9), neutrophil gelatinase-associated lipocalin (NGAL), and kidney injury molecule-1 (KIM-1) biomarkers as predictive factors to determine the surgery requirement in patients with ureteropelvic junction obstruction. METHODS: We obtained urine samples from 161 patients at diagnosis and evaluated their levels of the three biomarkers. The patients were under observation for 2 years; subsequently, they were divided into two groups based on their requirement of pyeloplasty. We determined the correlation between the urinary concentration of the biomarkers and surgical interventions, as well as the kidney function deterioration and sonography outcomes. RESULTS: The non-surgery group included 60 male and 22 female patients with mean age of 21 months. The surgery group comprised 58 boys and 21 girls with mean age of 26.9 months with no significant difference of age and gender between the two groups. The outcomes were indicative of higher efficacy of CA19-9 level with a sensitivity and specificity of 84.2% and 73.2% at the cutoff point of 59.09 U/ml. Also, a significant negative correlation was detected between the kidney function and the concentrations of CA19-9 and NGAL. CONCLUSIONS: Our evaluations demonstrate the higher efficacy of CA19-9 to predict the requirement of surgical intervention in comparison with the other biomarkers, as well as a significant correlation between kidney function deterioration and urinary CA19-9 and NGAL. The outcomes of this investigation could pave the way for more extensive clinical application of these urinary biomarkers, besides future research determining the association between markers and kidney fibrosis.

Recurrent formation of haematocolpos in a young girl with multiple congenital anomalies of the urogenital tract.

An 11-year-old girl, a known case of left crossed fused renal ectopia and sacral hypoplasia presented to the gynaecological OPD in Karachi, Pakistan, in February 2019 with complaints of abdominal pain. On examination, she was found to have a septum covering her vaginal orifice. She was subsequently diagnosed with haematocolpos secondary to imperforate hymen. Incision and drainage was done. However, despite surgical management, she continued to have recurrent formation of haematocolpos for the next two months secondary to multiple complete and partial transverse vaginal septa and post-operative formation of adhesions. Definitive management was done with ultrasound guided needle puncture and drainage, followed by post-operative tampon use to maintain patency.

Urogenital Abnormalities in Adenosine Deaminase Deficiency.

BACKGROUND: Improved survival in ADA-SCID patients is revealing new aspects of the systemic disorder. Although increasing numbers of reports describe the systemic manifestations of adenosine deaminase deficiency, currently there are no studies in the literature evaluating genital development and pubertal progress in these patients. METHODS: We collected retrospective data on urogenital system and pubertal development of 86 ADA-SCID patients followed in the period 2000-2017 at the Great Ormond Street Hospital (UK) and 5 centers in Italy. In particular, we recorded clinical history and visits, and routine blood tests and ultrasound scans were performed as part of patients' follow-up. RESULTS AND DISCUSSION: We found a higher frequency of congenital and acquired undescended testes compared with healthy children (congenital, 22% in our sample, 0.5-4% described in healthy children; acquired, 16% in our sample, 1-3% in healthy children), mostly requiring orchidopexy. No urogenital abnormalities were noted in females. Spontaneous pubertal development occurred in the majority of female and male patients with a few cases of precocious or delayed puberty; no patient presented high FSH values. Neither ADA-SCID nor treatment performed (PEG-ADA, BMT, or GT) affected pubertal development or gonadic function. CONCLUSION: In summary, this report describes a high prevalence of cryptorchidism in a cohort of male ADA-SCID patients which could represent an additional systemic manifestation of ADA-SCID. Considering the impact urogenital and pubertal abnormalities can have on patients' quality of life, we feel it is essential to include urogenital evaluation in ADA-SCID patients to detect any abnormalities, initiate early treatment, and prevent long-term complications.

Urogenital and pelvic complications in the Ehlers-Danlos syndromes and associated hypermobility spectrum disorders: A scoping review.

The Ehlers-Danlos syndromes (EDS) and associated hypermobility spectrum disorders (HSD) are a heterogenous group of connective tissue disorders associated with significant morbidity. The urogenital aspects of these disorders are understudied and there is little guidance on the prevalence, types, or outcomes of urogenital complications in EDS/HSD. Our objective was to perform a scoping review to characterize and synthesize the literature reporting urogenital and pelvic complications in EDS/HSD patients. We performed a systematic search of three databases (Medline, CINAHL, Embase) to January 2019. English language, full-text articles reporting on urogenital or pelvic complications in EDS/HSD were included. A total of 105 studies were included (62 case reports/series, 43 observational) involving patients with hypermobile (23%), vascular (20%), classical (12%) EDS, and HSD (24%). Some studies looked at multiple subtypes (11%) or did not report subtype (33%). Reported complications included urinary (41%), gynecological (36%), obstetrical (25%), renal (9%), and men's health problems (7%), with some studies reporting on multiple areas. Urinary and gynecological complications were most prevalent in patients with HSD, while a broad range of complications were reported in EDS. While further research is required, results suggest a higher index of suspicion for urogenital problems is probably warranted in this population.

GREB1L variants in familial and sporadic hereditary urogenital adysplasia and Mayer-Rokitansky-Kuster-Hauser syndrome.

Congenital uterine anomalies (CUA) may have major impacts on the health and social well-being of affected individuals. Their expressivity is variable, with the most severe end of the spectrum being the absence of any fully or unilaterally developed uterus (aplastic uterus), which is a major feature in Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH). So far, etiologies of CUA remain largely unknown. As reports of familial occurrences argue for strong genetic contributors in some cases, we performed whole exome sequencing in nine multiplex families with recurrence of uterine and kidney malformations, a condition called hereditary urogenital adysplasia. Heterozygous likely causative variants in the gene GREB1L were identified in four of these families, confirming GREB1L as an important gene for proper uterine and kidney development. The apparent mode of inheritance was autosomal dominant with incomplete penetrance. The four families included fetuses with uterovaginal aplasia and bilateral renal agenesis, highlighting the importance to investigate GREB1L in such phenotypes. Subsequent sequencing of the gene in a cohort of 68 individuals with MRKH syndrome or uterine malformation (mostly sporadic cases) identified six additional variants of unknown significance. We therefore conclude that heterozygous GREB1L variants contribute to MRKH syndrome and this probably requires additional genetic or environmental factors for full penetrance.

Best ultrasound parameter for prediction of adverse renal function outcome after pyeloplasty.

OBJECTIVE: To evaluate the clinical value of preoperative ultrasound parameters for post-pyeloplasty outcomes in pediatric patients with ureteropelvic junction obstruction. METHODS: The medical records of 187 pediatric and adolescent patients who underwent pyeloplasty as a result of ureteropelvic junction obstruction between 2010 and 2016 were retrospectively reviewed. The severity of hydronephrosis was measured by the Society for Fetal Urology grade, anteroposterior pelvic diameter, urinary tract dilation, hydronephrosis index, and the hydronephrosis area to renal parenchyma ratio at 3, 6 and 12 months. Adverse renal function outcome was defined as ≥10% decrease in postoperative differential renal function compared with preoperative values. RESULTS: Of the 187 patients, preoperative hydronephrosis was categorized as Society for Fetal Urology grade 3 in 26 patients (13.9%) and grade 4 in 161 patients (86.1%). No surgical failures, defined as requirement of repeat surgery or deterioration of hydronephrosis grade, were noted. The mean changes in Society for Fetal Urology grade, anteroposterior pelvic diameter, urinary tract dilation and hydronephrosis area to renal parenchyma ratio showed similar trends of recovery during the follow-up period. In total, 19 patients (10.2%) showed >10% decrease in differential renal function during follow up (mean 42 months). Multivariate logistic regression analysis showed that the hydronephrosis area-to-renal parenchyma ratio was the only significant prognostic factor for adverse renal function outcome (hazard ratio 1.806, 95% confidence interval 1.210-2.859, P = 0.005). Receiver operating characteristic analysis showed that the hydronephrosis area-to-renal parenchyma ratio was the most significant predictive value (area under the curve 0.711, 95% confidence interval 0.618-0.804, P = 0.006). CONCLUSIONS: Pediatric patients with high hydronephrosis area-to-renal parenchyma ratio values before surgery are more likely to show renal function decline after pyeloplasty.

[Clinical study on perinatal outcomes of 80 cases with unicornuate uterus pregnancy].

Objective: To analyze the perinatal outcomes of unicornuate uterus pregnancy. Methods: The clinical data of patients with unicornuate uterus pregnancy who delivered between January 2009 and December 2018 in Women's Hospital, School of Medicine, Zhejiang University, were reviewed retrospectively. Live birth was defined as the delivery of a baby after at least 28 weeks gestational age. Ninety-eight patients were diagnosed as unicornuate uterus, while 4 cases of stillbirth and 4 cases of twin pregnancy and 10 cases of incomplete data were excluded, and 80 patients with unicornuate uterus were included in the observation group. By matching the age, gestational age and delivery mode, 160 patients were randomly selected as the control group. The perinatal outcomes such as delivery mode, cesarean section indication sequence, postpartum hemorrhage, vaginal delivery time, newborn birth weight and Apgar score were analyzed retrospectively. Results: In the unicornuate uterus group, there were 10 cases of vaginal delivery and 70 cases of cesarean section, among which the primary indication of premature cesarean section and full-term cesarean section was abnormal fetal position, accounting for 7/18 and 50.0% (26/52), respectively. While in the control group, there were 20 cases of vagianl delivery and 140 cases of cesarean section, among which the main indications of premature cesarean section were placenta previa, intrahepatic cholestasis during pregnancy and scar uterus, accounting for 19.4% (7/36), and the primary indication of full-term cesarean section was abnormal fetal position, accounting for 23.1% (24/104). The postpartum hemorrhage of the vaginal delivery in the unicornuate uterus group and the control group was (319±161) and (261±152) ml, respectively, and the postpartum hemorrhage of the cesarean section delivery was (257±106) and (272±123) ml, respectively. There were no significant differences between the two groups statistically (all P>0.05). The time of the first stage of labor was (502±386) and (465±296) minutes in the unicornuate uterus group and the control group, and the time of the second stage was (74±73) and (47±30) minutes, respectively. There were no significant differences between the two groups statistically (all P>0.05). The neonatal birth weight in the unicornuate uterus group and the control group was (3 018±548) and (3 080±562) g, respectively, and there was no significant difference between the two groups statistically (P=0.42). According to preterm birth and different pre-pregnancy body mass index, the neonatal birth weight of the two groups were compared, and the differences were not statistically significant (all P>0.05). One-minute Apgar score of premature in the unicornuate uterus group and the control group were 10 (9.25-10) and 10 (10-10), 5-minute Apgar score were 10 (10-10) and 10 (10-10), respectively. One-minute Apgar score of full-term in the unicornuate uterus group and the control group were 10 (10-10) and 10 (10-10), 5-minute Apgar score were 10 (10-10) and 10 (10-10), respectively. There were no statistically significant differences between the two groups, respectively (all P>0.05). Conclusions: The patients with unicornuate uterus could give birth vaginally in the absence of other operation indications. The perinatal outcome of women with unicornuate uterus is similar to that of women with non-uterine abnormalities. It is found that the abnormal fetal position with unicornuate uterus is the main reason for cesarean section.

[Morbidity of congenital heart disease in children with anorectal malformations and related treatment].

OBJECTIVE: To investigate the morbidity of congenital heart defects(CHDs) in children with anorectal malformation, and to summarize appropriate treatment. METHODS: The clinical data and echocardiographic findings of 155 children with congenital anorectal malformations from the Third Affiliated Hospital of Zhengzhou University during January 2016 and October 2019 were reviewed. According to the surgical findings of anorectal malformations, the patients were categorized as the high/intermediate group and the low group; the CHDs were classified as minor CHDs and major CHDs. Multiple logistic regression was used to analyze the correlation of wingspread classification, and extracardiac malformations with the severity of CHDs. RESULTS: Out of 155 children with anorectal malformations, 47 (30.3%) had different types of cardiac structural malformations, including 18 cases of minor CHDs (11.6%) and 29 cases of major CHDs (18.7%). Sixty children (38.7%) had extracardiac malformations, of which 38 cases (24.5%) had a single extracardiac malformation, 15 cases (9.7%) had multiple extracardiac malformations, 6 had trisomy 21 syndrome, and 1 had VATER syndrome. Multivariate logistic regression analysis showed that wingspread classification of anorectal malformation and extracardiac disorders were independent risk factors for major CHDs. The probability of major CHDs in children with high/intermediate anorectal malformation was 4.709 times higher than that with low anorectal malformation (OR=4.709, 95% CI: 1.651-13.432, P<0.01). The probability of major CHDs was 3.85 times higher for increasing each additional grade of extracardiac malformations(without, with single, or multiple malformations) (OR=3.850, 95% CI: 2.065-7.175, P<0.01). According to the presence and severity of CHDs, children with anorectal malformations were classified into three categories: without CHDs, with minor CHDs and with major CHDs, for differential treatment and management. Anorectal malformations would be treated and managed in children without CHDs and with minor CHDs following the original plan; however, children with minor CHDs may require cardiac follow-up after surgery. In children with major CHDs, the personalization tactics were developed based on the principle of emergency first. There were increased perioperative infection rate (P<0.05), longer hospital days (P<0.01), reduced cure rate (P<0.05) and increased mortality (P<0.05) in children with major, compared with those without CHDs and minor CHDs. CONCLUSIONS: The morbidity of major CHDs is higher in severe cases with high/intermediate anorectal malformation and acute cases without fistula or with obstructed fistula and cases with multiple congenital disorders. Echocardiography can define the type and severity of CHDs, which are useful to develop the optimal diagnosis and treatment plan for children with anorectal malformation.

Kidney Disease in African American Children: Biological and Nonbiological Disparities.

Pediatric-onset chronic kidney disease (CKD) is as relevant to adults as it is to children. Congenital anomalies of the kidney and urinary tract may have a significant impact on health from birth or during childhood or may not manifest until adulthood. Many acquired kidney diseases start to appear in late childhood and adolescence. The propensity for more rapid progression of CKD to end-stage kidney disease in adults of African ancestry, as well as disparities in access to kidney transplantation and allograft longevity, have been well documented for decades. Similar disparate patterns are seen in children, and we now know that there are a range of biological and nonbiological risk factors for the development and progression of CKD in people of African descent that are pertinent to CKD in children. In some cases, it is unclear whether there are effective potential interventions, whereas in other situations, there are opportunities to improve outcomes.

Association of pesticide exposure with human congenital abnormalities.

Human pesticide exposure can occur both occupationally and environmentally during manufacture and after the application of indoor and outdoor pesticides, as well as through consumption via residues in food and water. There is evidence from experimental studies that numerous pesticides, either in isolation or in combination, act as endocrine disruptors, neurodevelopmental toxicants, immunotoxicants, and carcinogens. We reviewed the international literature on this subject for the years between 1990 and 2017. The studies were considered in this review through MEDLINE and WHO resources. Out of the n = 1817 studies identified, n = 94 were reviewed because they fulfilled criteria of validity and addressed associations of interest. Epidemiological studies have provided limited evidence linking pre- and post-natal exposure to pesticides with cancers in childhood, neurological deficits, fetal death, intrauterine growth restriction, preterm birth, and congenital abnormalities (CAs). In this review, the potential association between pesticide exposure and the appearance of some human CAs (including among others musculoskeletal abnormalities; neural tube defects; urogenital and cardiovascular abnormalities) was investigated. A trend towards a positive association between environmental or occupational exposure to some pesticides and some CAs was detected, but this association remains to be substantiated. Main limitations of the review include inadequate exposure assessment and limited sample size. Adequately powered studies with precise exposure assessments such as biomonitoring, are warranted to clarify with certainty the potential association between pesticide exposure and human CAs.

[Ectopic tissue of the female genital tract]. / Ektopes Gewebe des weiblichen Genitaltraktes.

Ectopias of female genital tissues are a common event in routine pathology. Mostly they derive from paramesonephric tissues displaced during embryonal development or later. However, gonadal-, mesonephric-, or mesothelial-derived tissues may also appear in unusual localizations in and outside the female genital tract. They may be the source of benign and malignant tumors or tumor-like lesions. This review aims to provide an overview of possible tissue ectopias and to improve the developmental understanding of tumorous diseases of the female genital tract. Ectopias of primarily extragenital tissues in the female genital tract are also reviewed.

Spectrum, management and outcomes of structural and functional uropathies in children attending a tertiary care center in Karachi; Pakistan.

Causes and outcomes of children diagnosed with hydronephrosis in resource-limited countries with a low utilization of antenatal ultrasonography remain unexplored. We performed a retrospective, crosssectional study of all paediatric patients diagnosed with hydronephrosis and managed at a tertiary care center in Karachi, Pakistan between 2005 and 2010. Data relating to demographics, clinical features, etiologies and treatment modalities were systematically collected. Of a total of 234 cases (74.4% male), 83 (35.5%) and 42 (17.9%) were neonates and infants respectively. Congenital urinary tract pathologies were noted in 192(72.2%) patients, of which only 96(50%) had undergone foetal ultrasonography and 77(40.1%) first presented after the age of 1 year. At a median follow-up of 4 years, 24(12.5%) of these patients had evidence of renal dysfunction. Worse urologic outcomes in this study were most likely attributable to delayed diagnosis of congenital urinary tract abnormalities.

[Homozygous 5T alleles, clinical presentation and genetic analysis within a family with congenital bilateral absence of the vas deferens].

Objective: To study the cystic fibrosis transmembrane regulator(CFTR) genotypes and genetic characteristics of a Chinese family with Congenital bilateral absence of vas deferens(CBAVD). Methods: Two 33/29-years-old brothers presented with CBAVD-caused obstructive azoospermia were diagnosed on the basis of scrotal palpation, analysis of semen and ultrasound tests. We extracted their genomic DNA as well as their healthy parents' from the peripheral blood leukocytes. To identify CFTR mutations, each of the 27 exons of the CFTR gene and their flanking splice sites sequences were amplified by polymerase chain reaction(PCR) and subsequently studied with Sanger sequencing. Mutations/variations were identified and compared with the control sequence searched in the NCBI database. Results: Homozygous 5T mutation at the splicing site ahead of exon 10 of the CFTR gene was identified in both brothers in association with 13TG and 12TG alleles(13TG-5T/12TG-5T), one of those was inherited from the mother(13TG-5T/11TG-7T), the other was from the father(12TG-5T/12TG-7T). All of the results above had been excluded the presence of other mutations. Genetic study of this family supports that homozygous 5T mutation is associated with CBAVD. Individuals with homozygous 5T alleles are 20 times more possible to transmit this deleterious variant to the next generation than general population. Conclusions: This family we analysed agrees with the previous conclusion that 5T allele is a deleterious and heritable mutation which could cause CBAVD. Considering better genetic counseling, CFTR gene detection and Preimplantation genetic diagnosis(PGD) are suggested for CBAVD couples who seek for reproductive assistance.

Sonographic diagnosis of splenogonadal fusion in a 2-year-old boy.

Splenogonadal fusion (SGF) is a rare congenital abnormality. It is typically identified during orchiectomy for a suspected testicular tumor or during orchiopexy. We describe the sonographic findings in a case of SGF that could help with correct diagnosis preoperatively. © 2016 Wiley Periodicals, Inc. J Clin Ultrasound 45:179-182, 2017.