Evaluation of chromosomal abnormalities in the postnatal cohort: A single-center study on 14,242 patients.

BACKGROUND AND AIM: Chromosomal analysis is a laboratory technique used to examine the chromosomes of an individual, offering insights into chromosome numbers, structures, and arrangements to diagnose and comprehend genetic diseases. This retrospective study provides a comprehensive understanding of the distribution by indications in a large cohort of 14,242 patients and the frequency of chromosomal abnormalities in different clinical populations. METHOD: The study examined various indications for karyotype evaluation, with recurrent pregnancy loss being the most common indication, followed by intellectual disability, dysmorphic features, congenital anomalies, and developmental delay. RESULTS: The overall chromosomal abnormality rate was found to be 5.4%, with numerical abnormalities accounting for the majority of cases (61.7%). Trisomies, particularly trisomy 21, were the most frequent numerical abnormalities. In terms of structural abnormalities, inversions and translocations were the most commonly identified. The rates of chromosomal anomalies varied in specific indications such as amenorrhea, disorders of sex development, and Turner syndrome. The study also highlighted significant differences between males and females in the presence of chromosomal abnormalities across certain indications. Males exhibited a higher incidence of chromosomal abnormalities in cases of Down syndrome and infertility, whereas females showed higher abnormalities in terms of recurrent pregnancy loss. CONCLUSION: While this study provides valuable insights into the frequency and distribution of chromosomal abnormalities, it has limitations, including its retrospective design and reliance on data from a single medical genetics department. Nevertheless, the findings emphasize the importance of karyotype analysis in diagnosing chromosomal disorders and providing appropriate management, while also pointing to potential gender-related variations in chromosomal abnormalities that warrant further investigation.

Which children are at risk of developing overactive bladder in early adulthood even if lower urinary tract symptoms improve during childhood?

OBJECTIVES: To evaluate more comprehensively the presence of an association between childhood lower urinary tract symptoms and development of adulthood overactive bladder, to determine the group at most risk of overactive bladder in adulthood, and to assess its effects on daily life. METHODS: A total of 264 patients who were followed up for lower urinary tract symptoms in childhood between 2000 and 2005 were included in this retrospective, cohort study. After a median period of 20 years, these patients with a median current age of 29 (27-35) years were re-evaluated and divided into two groups: those currently with overactive bladder (n = 102, 23.0%), and those without overactive bladder (n = 162, 36.5%). In addition, 180 age-matched overactive bladder patients without a history of childhood lower urinary tract symptoms (n = 180, 40.5%) were included. The primary endpoint was to determine which children are at higher risk of adulthood overactive bladder. The secondary endpoint was to evaluate the effect of history of childhood lower urinary tract symptoms on quality of life in adulthood. The eight-item Overactive Bladder questionnaire, the Pittsburgh Sleep Quality Index, and the Short-Form 36-item Health Survey were administered to all participants. Voiding Dysfunction Symptom Score was evaluated according to childhood medical records. RESULTS: Overactive bladder in adulthood was observed in 38.6% of patients recovering from childhood lower urinary tract symptoms. They had worse overactive bladder symptom scores and quality of life than those without childhood lower urinary tract symptoms (P < 0.001). Voiding Dysfunction Symptom Score ≥13 (odds ratio 2.54), daytime incontinence (odds ratio 2.01), holding maneuvers (odds ratio 1.82), nocturnal enuresis (odds ratio 1.75) in the pediatric period, and recovery age from all these symptoms of ≥12 years (odds ratio 1.95) were the most unfavorable determinants of development of adulthood overactive bladder. CONCLUSIONS: Our findings show that children with the above characteristics are at risk of developing overactive bladder later in their lives even if their symptoms improve in childhood.

Clinical practice in vesicoureteral reflux with respect to EAU guidelines: A multicenter study.

PURPOSE: We designed a multicenter, retrospective study to investigate the current trends in initial management of reflux with respect to European Association of Urology (EAU) Guidelines in Urology clinics of our country. MATERIALS AND METHODS: The study group consisted of 1988 renal units (RU) of 1345 patients treated surgically due to vesicoureteral reflux (VUR) (between years 2003 and 2017) in nine different institutions. Patients were divided into two groups according to time of initial treatment and also grouped according to risk factors by "EAU guidelines on VUR." RESULTS: In this series, 1426 RUs were treated initially conservatively and 562 RUs were initially treated with surgery. In initially surgically treated group, success rates of surgery decreased significantly in low and moderate risk groups after 2013 (P = .046, P = .0001, respectively), while success rates were not significantly different in high risk group (P = .46). While 26.6% of patients in low risk group were initially surgically treated before 2013, this rate has increased to 34.6% after 2013, but the difference was not statistically significant (P = .096). However, performing surgery as the initial treatment approach increased significantly in both moderate and high risk groups (P = .000 and P = .0001, respectively) after 2013. Overall success rates of endoscopic treatments and ureteroneocystostomy (UNC) operations were 65% and 92.9% before 2013 and 60% and 78.5% after 2013, respectively. Thus, the overall success rate for surgery was 72.6%. There was significant difference between success rates of UNC operations before and after 2013 (P = .000), while the difference was not significant in the injection group (P = .076). CONCLUSION: Current trends in management of reflux in our country do not yet follow the EAU guidelines on VUR in low and moderate risk groups despite these reliable and accepted guidelines were expected to influence our daily approach.

The effect of cardiovascular morbidity on clinical response provided by tadalafil in patients with erectile dysfunction.

We aimed to investigate the association between erectile dysfunction and severity of cardiovascular morbidity and to assess clinical responses to tadalafil of patients in different cardiovascular risk groups. Between November 2019 and August 2020, a total of 258 male patients aged 45-70 years with ED were included. They were divided into three groups according to the Framingham risk score: low-risk (n: 86, 33.3%), intermediate-risk (n: 103, 39.9%) and high-risk (n: 69, 26.8%). At admission, all domains of the International Index of Erectile Function score were worse in high-risk group compared to other risk groups (p < .001). After a 12-week follow-up, a more significant improvement was observed in all domains of erectile function in all risk groups, but high-risk group had lower sexual scores (p < .001). The lowest rate for complete responsiveness to tadalafil was observed in the high-risk group (37.7%). The rate of failure in complete responsiveness was found to be 4.127 times greater with higher Framingham score and 3.102 times greater with higher erectile dysfunction severity at admission. Our preliminary findings show that more severe sexual disorders are observed in high-risk patients with cardiovascular morbidity. Individualised treatment may be important in high-risk group since they may benefit less from tadalafil, and failure in complete responsiveness can be more common in this group.

A Rare Cause of Male Infertility: 45,X/46,XY Mosaicism.

OBJECTIVE: To present the clinical, chromosomal, and endocrinological features of 8 infertile male cases with the 45,X/46,XY karyotype who were admitted to our infertility clinic. MATERIALS AND METHODS: The records of cases who were admitted to our infertility clinic between 1999 and 2015 were investigated. Eight cases with 45,X/46,XY were detected. The clinical, endocrinological, and chromosomal assessments were analyzed. Each patient's height, weight, body mass index, testicular volume, endocrine hormone levels, follow-up period semen analysis, testicular biopsy reports, and karyotype analysis were evaluated retrospectively. RESULTS: Some cases had a short stature, but often their phenotypes were normal. Seven of the cases had normal testosterone levels and all cases, except one, had elevated gonadotropin levels. All cases were azoospermic and testicular biopsy showed Sertoli cell-only syndrome. Peripheral blood karyotype revealed 45,X/46,XY mosaicism in all cases. Metaphase counts and percentages were different. CONCLUSIONS: Individuals with 45,X/46,XY mosaicism that have a normal male phenotype form make up a rare subgroup of the 45,X/46,XY karyotype. These individuals usually present with infertility and were diagnosed based on the results of the karyotype analysis during azoo or severe oligospermia evaluation.

Ten cases with 46,XX testicular disorder of sex development: single center experience.

OBJECTIVE: To present clinical, chromosomal and hormonal features of ten cases with SRY-positive 46,XX testicular disorder of sex development who were admitted to our infertility clinic. CASES AND METHODS: Records of the cases who were admitted to our infertility clinic between 2004 and 2015 were investigated. Ten 46,XX testicular disorder of sex development cases were detected. Clinical, hormonal and chromosomal assessments were analized. RESULTS: Mean age at diagnosis was 30.4, mean body height was 166.9cm. Hormonal data indicated that the patients had a higher FSH, LH levels, lower TT level and normal E2, PRL levels. Karyotype analysis of all patients confirmed 46,XX karyotype, and FISH analysis showed that SRY gene was positive and translocated to Xp. The AZFa, AZFb and AZFc regions were absent in 8 cases. In one case AZFb and AZFc incomplete deletion and normal AZFa region was present. In the other one all AZF regions were present. CONCLUSION: Gonadal development disorders such as SRY-positive 46,XX testicular disorder of sex development can be diagnosed in infertility clinics during infertility workup. Although these cases had no chance of bearing a child, they should be protected from negative effects of testosterone deficiency by replacement therapies.

Metaplastic Conditions in The Bladder in Patient with Epidermolysis Bullosa.

Epidermolysis bullosa is a rare inherited muco-cutaneous disorder that sometimes presentes with genitourinary involvement. Herein we report the case of an 11-year-old girl with a history of junctional epidermolysis bullosa who was admitted with urological symptoms. On cystoscopy, suspected bullous bladder lesions were observed. Mesonephroid, intestinal and squamous metaplasia is reported here for the first time.

Factors effecting the success of retrograde intrarenal surgery in pediatric patients with renal stones: The experience of two tertiary centres with 368 renal units.

INTRODUCTION AND OBJECTIVES: Currently, in the field of pediatric urology, the primary aim of surgical approaches for the treatment of renal stone disease is to provide a stoneless state through minimally invasive methods, and to prevent the damage that such stones may cause in the urinary system and stone recurrence. The aim of this study was to evaluate the efficacy and safety of RIRS and the factors affecting its success in the surgical treatment of renal stones in pediatric patients. METHODS: Data from 357 pediatric and 368 renal units were collected retrospectively. The recorded parameters were age, gender, location and burden of the stone, and presence of postoperative residual stones. RESULTS: The stone location was the upper pole in 28 (7.6 %) patients, the middle pole in 44 (12 %), the pelvis in 98 (26.6 %), the lower pole in 139 (37.8 %), and multiple locations in 59 (16 %) patients. A stoneless state was achieved in 277 (75.3 %) units, while 91 units (24.7 %) had residual stones at the end of the first month. In the multivariate analysis, the development of residual stones was found to be significantly associated with age (odds ratio [OR], 1.123; p = 0.012) and stone location (OR, 3.142; p = 0.018). DISCUSSION: RIRS is an endourological procedure with a high success rate in the achievement of a stoneless state in both pediatric and adult age groups, with an 82-100 % success rate reported in various studies. A full stoneless state was achieved in 277 (75.3 %) units after the initial RIRS in the present study, and full stone clearance was achieved in 304 units after the second RIRS session, with a success rate of 82.6 %. A limitation of our study is that it was not performed by a single surgeon, and stone samples could not be taken from all patients for stone analysis. CONCLUSION: RIRS has also been associated with a high success rate in the endoscopic treatment of renal stones and is an efficient and safe method with a minimal rate of complications, especially in the pediatric age group.

Mobility and Sporting Activity After Renal Trauma: A Survey Regarding Best Clinical Practice During the Recovery Stage.

OBJECTIVE: To evaluate strategies that are followed after pediatric renal trauma during the recovery stage, with an emphasis on mobility and involvement in subsequent sporting activities. Renal trauma is the most common urogenital trauma in children. The American Association for the Surgery of Trauma (AAST) scale is most commonly used to stratify the severity of injury. There is no consensus in the existing literature with respect to the recovery stage following renal trauma. METHODS: A survey was constructed by the European Association of Urology (EAU) - Young Academic Urologists (YAU) Pediatric Urology Working Group and then made digitally available on SurveyMonkey. The survey consists of 15 questions exploring relevant factors and timing to start again with mobility and activity. RESULTS: In total 153 people responded, of whom 107 completed the entire survey. The presence of pain and severity of trauma were acknowledged as most important factors to commence mobilization, whereas presence of hematuria was identified as an additional factor for sporting activity. Regardless of severity of trauma a minimum of 90% of respondents recommend return to noncontact sports within 12weeks. For contact sports, a minimum of 33% of respondents advised >12weeks minimum before starting again. A small number of respondents would never allow sporting activities again. CONCLUSION: The time to allow sporting activity shows high variation among the respondents, some even restricting sporting activities completely. This survey highlights the need for a standardized protocol based on multicenter follow-up data.

Has robot-assisted pyeloplasty reached outcome parity with laparoscopic pyeloplasty in children <15 kg? A Paediatric YAU international multi-center study.

INTRODUCTION: Ureteropelvic Junction Obstruction (UPJO), is a major cause of pathological hydronephrosis in children. Minimally invasive surgery (MIS), including laparoscopic pyeloplasty (LP) and robot-assisted laparoscopic pyeloplasty (RALP), has gained popularity due to its known advantages. LP faces technical difficulties and a steep learning curve. RALP has overcome these limitations, making it safer and more effective for children. The study aims to assess the safety and effectiveness of LP and RALP in infants weighing ≤15 kg. MATERIALS AND METHODS: This is a retrospective analysis (2010-2022). The study included pediatric patients who had a confirmed diagnosis of UPJO and weighed ≤15 kg. The patients were divided into two groups: LP and RALP. The study evaluated preoperative, intraoperative, perioperative, and follow-up data, including complications. Success was defined as no worsening of hydronephrosis on postoperative ultrasound in the first year of follow-up. RESULTS: The total patients were 94: 42 in the LP group, and 52 in the RALP group. The median age at the intervention was 17.5 months (LAP group) versus 29 months (RALP group) (p = 0.01). The median weight at the time of intervention was 9.5 Kg (LP group), and 11.6 Kg (RALP group) (p = 0.44). The median operative time was significantly longer in the LP group: 245 min versus 125.5 min in the RALP group (p = 0.001). The median length of hospitalization was comparable: 4.3 days (LP group) and 3.5 days (RALP group) (p = 0.42). No intraoperative complications were reported in either group. There were no statistically significant differences regarding postoperative complications. During follow-up, all patients remained asymptomatic, with no episodes of urinary tract infection or abdominal pain, and none of them had a recurrence of UPJ obstruction. Consequently, the two techniques are equally effective and safe in the short term. DISCUSSION: Both procedures offer excellent outcomes with comparable postoperative complications. LOS was similar for both groups, with no intraoperative complications or conversions, and a non-significant increase in postoperative complications. A notable finding was the significant difference in operation times between the procedures, emphasizing the importance of reduced surgical time in pediatric patients for minimizing anesthetic and intubation durations. CONCLUSION: For the absence of intra- and postoperative complications and recurrences, RALP is as effective as LP in pyeloplasty in children weighing 15 kg or less. This finding reinforces the idea that RALP can be safely executed, benefiting from its advanced technology and the learning curve, for patients of any age regarding pyeloplasty for UPJO.

Undescended testis: A roundtable discussion based on clinical scenarios - Part 1.

Undescended testis (UDT, cryptorchidism) is the most common congenital anomaly of the genital tract. Despite its high incidence, the management of UDT varies between specialties (urology, pediatric surgery, pediatric urology, pediatric endocrinology). Therefore, as the European Association of Urology - Young Academic Urologists Pediatric Urology Working Group, we requested experts around the world to express their own personal approaches against various case scenarios of UDT in order to explore their individual reasoning. We intended to broaden the perspectives of our colleagues who deal with the treatment of this frequent genital malformation.

A multi-institutional European comparative study of open versus robotic-assisted laparoscopic ureteral reimplantation in children with high grade (IV-V) vesicoureteral reflux.

INTRODUCTION: Traditionally, open ureteral reimplantation (OUR) has been the standard treatment for primary vesicoureteral reflux (VUR) requiring reimplantation. Robotic-assisted laparoscopic ureteral reimplantation (RALUR) is gaining popularity and high success rates have been reported. OBJECTIVE: In this multi-institutional study, we aimed to compare the perioperative and postoperative outcomes of OUR and RALUR for high-grade (IV + V) VUR in children. STUDY DESIGN: A retrospective evaluation was performed collecting data from 135 children (0-18 years) who underwent high grade VUR surgical correction at nine European institutions between 01/01/2009 and 01/12/2020, involving either open or robotic approaches. Institutional review board approval was obtained. Patients with lower grades of VUR (≤III), previous history of open or endoscopic ureteral surgery, neurogenic bladder, or refluxing megaureter in need of ureteral tapering were excluded. Pre-, peri- and post-operative data were statistically compared. RESULTS: Overall, 135 children who underwent either OUR (n = 68), or RALUR (n = 67) were included, and their clinic and demographic features were collected. The mean age of the open group was 11 months (interquartile range [IQR] 9.9-16.6 months), in the RALUR group it was 59 months (IQR 29-78mo) (p < 0.01); the open cohort had a weight of 11 kg (IQR 9.9-16.6 kg) while the RALUR group had 19 kg (IQR 13-25 kg) (p < 0.01). No significant differences were found for intraoperative (1.5 % vs 7.5 %, p = 0.09) or for postoperative complication rates (7.4 % vs 9 %, p = 0.15). Favorable outcomes were reported in the RALUR group: shorter time to stooling (1 vs 2 days), fewer indwelling urethral catheter days (1 vs 5 days), perioperative drain insertion time (1 vs 5 days) and a shorter length of hospital stay (2 vs 5 days) (p < 0.01). The success rate was 94.0 % and 98.5 % in the open and RALUR groups, respectively. The long-term clinical success rates from both groups was comparable:42 vs 23 months for open and RALUR, respectively. DISCUSSION: This study reported a large multicentric experience focusing on high grade VUR. Furthermore, this study compares favorably to OUR in a safety analysis. There was also a trend towards higher success rates with RALUR utilizing an extravesical approach which has not been previously reported. CONCLUSION: RALUR is an efficacious and safe platform to use during ureteral reimplantation for high grade VUR. The overall peri-operative and post-operative complication rates are at least equivalent to OUR, but it is associated with a faster functional recovery and time to discharge. Medium to long term success rates are also equivalent to OUR.