Bladder duplication in a patient with a persistent urogenital sinus: Case report and systematic review of the literature.

Bladder duplication (BD) is a rare malformation that is often associated to other anomalies. We report a newborn diagnosed with BD in the sagittal plane, associated to persistent urogenital sinus (UGS), given the opening of the vagina immediately below the bladder neck. It is the fourth time this association is reported. Surgical repair was made: both bladders were joined, the common channel was left as urethra and the vagina was descended with a vaginoplasty with an intestinal segment. She also presented an anterior anus, that required posterior mobilization. The patient is currently 3 years old with good sphincter control.

Long-term outcome of pediatric renal transplantation with donors younger than 6 years.

BACKGROUND: Renal transplantation is currently the best treatment option for patients with end-stage renal disease. However, the use of kidneys from donors under 6 years of age as a possibility to increase the organ pool in pediatric recipients remains a controversial matter. We aimed to investigate whether donor age is associated to the long-term functionality of the renal graft. Likewise, we analyzed the adaptation of the graft to the ascending functional requirements in the pediatric patient. METHODS: Retrospective study of the results obtained in pediatric recipients transplanted with grafts from donors between 3 and 6 years of age, comparing them with those of grafts from donors older than 6 years. Among the variables compared are cumulative graft survival, renal size, need for antiproteinuric therapy, GFR, incidence of rejection, pyelonephritis, renal failure and surgical or tumor complications. RESULTS: A total of 43 transplants were performed with donors aged 3-6 years, and 42 transplants with donors older than 6 years. Cumulative graft survival at 5 years was 81% for the younger donor group compared to 98% for the older donor group (p < .05). At 8 years, cumulative graft survival for donors <6 years was 74%. As for the mean estimated graft survival, it was 11.52 years for the younger donor group and 14.51 years for older donors. During follow-up, the younger donor group presented greater renal enlargement and need for antiproteinuric therapy. The older donors group had a higher GFR during the first year of follow-up, which then equalized in both groups. There were no statistically significant differences in the incidence of acute or chronic rejection, acute pyelonephritis, acute renal failure or surgical or tumor complications. CONCLUSIONS: Renal transplants of grafts equal to or less than 6 years old have good short-term and acceptable long-term results in pediatric patients.

Anatomical Variations of the External Genitalia in Posterior Cloaca: Clinical Consequences of Misdiagnosis-A Systematic Review of the Literature and the ARM-Net Consortium Experience.

PURPOSE: All types of cloacal malformations may be associated with anatomic variations of the external genitalia, including hypoplasia of the labia minora and enlarged clitoris; these variations could be even higher in posterior cloacas (PCs). If a careful physical examination is not performed, patients may be misdiagnosed with ambiguous genitalia (AG), leading to subsequent unnecessary testing, surgeries, or even wrong gender assignment. The aim was to analyze data of patients with PC within the ARM-Net registry, focusing on the description of the genitalia, gender assignment, and its consequences. Additionally, we investigated the presence of AG diagnosis in utero or at birth in patients with PC in the literature. METHODS: The ARM-Net registry was scanned for PC cases and data on diagnosis were collected. A systematic literature search was conducted using the PubMed, EMbase, and Web-of-Science databases. Descriptive statistics was used to report data. RESULTS: Nine patients with PC were identified in the ARM-Net registry. Five patients (55%) were diagnosed with AG, two (22%) were assigned as males and only two patients were correctly assigned as females and diagnosed with PC with respective variations of external genitalia. All patients diagnosed with AG had extensive blood testing including karyotype and hormonal studies. One of the patients who was diagnosed as a male, had surgery for pelvic cystic mass removal, which ultimately led to unaware salpingo-oophorectomy, hysterectomy, and vaginectomy. In the literature we identified 60 patients, 14 (23%) with AG, 1 with clitorolabial transposition and 1 with undeveloped vulva and vagina; 4 patients had normal anatomy. In 40 (67%) patients the anatomy of genitalia was not mentioned. CONCLUSION: Patients with PC are at high risk of being diagnosed with AG or even assigned the wrong gender at birth. In our series two patients were assigned as males, and consequently one of them underwent a highly mutilating surgery. A thorough physical examination together with a high index of suspicion and laboratory workup are mandatory to identify these variations, avoiding further investigations, unnecessary surgeries, and parental stress.

Neutrophil-to-lymphocyte ratio as a predictor of primary vesicoureteral reflux evolution in children with associated acute pyelonephritis.

Background: Neutrophil-to-lymphocyte ratio (NLR) has been recently postulated as an inflammatory biomarker for the diagnosis of vesicoureteral reflux (VUR). The aim of this study is to determine the role of NLR as a predictor of evolution of primary VUR in patients with associated acute pyelonephritis (APN). Methods: A retrospective observational cohort study was performed in patients with APN episodes with associated primary VUR diagnosed between 2013-2020. Patients were divided into two groups according to VUR evolution after APN: group A [spontaneous resolution (SR)] and group B [VUR complications development (CD) during follow-up: new APN or renal function worsening]. Demographic, prenatal, laboratory, microbiological and radiological data were analysed. Sensitivity and specificity for CD of VUR was determined by receiver operating characteristic (ROC) curves. Results: A total of 1,146 episodes of APN were analysed of which 273 patients with APN and associated primary VUR were finally included (median age of 11 months at APN diagnosis). SR of VUR occurred in 169 patients (SR group), while CD were observed in the remaining 104 patients (CD group). No differences in demographic, prenatal, microbiological and radiological features were observed. CD patients had significantly higher levels of leukocytes, neutrophils, NLR, C-reactive protein and creatinine. NLR was the parameter with the highest area under the curve (AUC =0.966) for predicting the development of VUR complications (cut-off point =3.41) with a maximum sensitivity of 92.7% and specificity of 91.1% (P<0.001). Conclusions: NLR may be considered as a simple and cost-effective predictor of clinical outcome of VUR, which may correlate with the increased risk of developing complications of primary VUR after an episode of APN. Therefore, it should be included in the management algorithm for these patients, although future prospective studies are still required to confirm these results.

The role of neutrophil-to-lymphocyte ratio as a predictor of testicular torsion in children.

INTRODUCTION: Doppler ultrasound constitutes the gold standard for the diagnosis of testicular torsion (TT), although sometimes the spermatic cord twisting and absence of testicular flow are difficult to visualize. To date, no laboratory markers have been shown to be useful for preoperative TT diagnosis. OBJECTIVE: Our aim is to analyze the role of the neutrophil-to-lymphocyte ratio (NLR) as a predictor of pediatric TT. STUDY DESIGN: A retrospective single-center case-control study was performed in patients with ultrasound suspicion of TT, in whom surgical testicular examination was performed between 2016 and 2020. Patients were divided into two groups according to the intraoperative findings: TT group (testicular torsion), defined as spermatic cord twisting on itself around its longitudinal axis at least 360°, and non-TT group (no torsion). Demographics, clinical, ultrasound and laboratory features at admission were analyzed. Sensitivity and specificity were determined by the area under the curve (AUC) represented on the receiver operating characteristic (ROC) curves. RESULTS: A total of 159 patients were included (117 TT group; 42 non-TT group), with no demographic or clinical differences. TT group patients presented significantly shorter median time since symptoms onset (4 vs. 8 h; p < 0.012). Laboratory inflammatory test were significantly higher in TT group: Leukocytes (10,900 × 103/µl vs. 7,980 × 103/µl; p < 0.001), neutrophils (8,050 × 103/µl vs. 3,350 × 103/µl; p < 0.001) and NLR (4.6 vs. 1.1; p < 0.001). In ROC curve analysis, NLR presented the highest AUC (0.903), significantly higher than all other laboratory and ultrasound parameters. NLR of 2.3 was the cut-off point with maximum sensitivity (86.9%) and specificity (94.8%). DISCUSSION: This is, to the best of our knowledge, the first study to analyze the usefulness of NLR in predicting the diagnosis of TT in patients with clinical and ultrasound suspicion. The limitations are mainly derived from being a single-center retrospective study. For this reason, multicenter studies with a higher number of patients and prospective design may be useful to minimize these biases. The sample size of our study, although not large, has allowed us to identify significant differences between the distinct parameters analyzed as predictors of TT. However, the absence of other similar studies in pediatric patients has hindered the comparison of our results. CONCLUSION: NLR should be considered as a predictor of pediatric TT in cases with nuclear ultrasound suspicion that may help to anticipate the urgent surgical treatment in these patients.

Buried penis surgical treatment in children: Dorsal dartos flap VS. Fascia fixation. A retrospective cohort study.

INTRODUCTION: Several surgical techniques for buried penis (BP) treatment have been described, although there is not a reference pattern for it. In our institution, we have traditionally performed penis fixation to Buck's fascia at 3 points. In 2014 we introduced a dorsal dartos flap technique, fixed at both sides of the penis base. OBJETIVE: To compare both techniques and their long-term outcomes. METHODS: A retrospective cohort study was conducted on consecutive patients with BP who underwent surgery between 2010 and 2018. They were divided according to surgical technique performed: group A (fascia fixation) and B (dorsal dartos flap). Demographic variables, surgical time and postoperative complications were analyzed. Long-term cosmetic outcomes were evaluated through a telephone survey to patients parents. RESULTS: Thirty-five patients were included (16 group A; 19 group B). Median age at intervention was 9.7 years in group A, with no statistical differences with group B (7.3 years; p = 0.071). No statistically significant differences were observed in mean surgical time or postoperative complications between both groups. Cosmetic outcomes (Table 2) were significantly better in group B, which presented higher percentages of satisfaction with the outcomes (95% vs. 64%; p = 0.02) and age at intervention (89% vs. 59%; p = 0.032), higher perception of the procedure as "minimally invasive" (100% vs. 71%; p = 0.013) and higher recommendation rate of the intervention (95% vs. 57%; p = 0.029). CONCLUSIONS: Dorsal dartos flap is a reproducible, minimally invasive technique with minimal adverse effects and satisfactory long-term results. It has fewer postoperative complications and more satisfactory cosmetic results compared to fascia fixation.

[Kidney transplantation in pediatric age.] / Trasplante renal pediátrico.

Kidney transplantation (KT) is the best treatment for children in end-stage renal disease. KT has less mortality than dialysis and provides a better quality of life. Thus, the inclusion criteria have been progressively broadened. Histocompatibility and the source of donation are the most relevant factors that influence graft survival. Graft and patient survival have improved dramatically in recent decades, coming close to the results of KT in adults. Some of the specific factors that differentiate it from the adult are: donor-recipient size mismatch,the impact on growth and therapeutic non-compliance. Overall graft survival at 5-years is 90% for living donor KT and 70% for cadaveric donor KT.The most frequent cause of graft loss is chronic rejection.Mortality in the first post-transplant years is less than 6.5%. Infections and cardiovascular complications are the main causes of transplant-related death.Despite the good results, it is imperative to continue investigating how to achieve immunological tolerance. In order to improve the long-term results of the kidney graftis necessary to reduce immunosuppressive treatment and its side effects, such as chronic rejection.

El Trasplante Renal (TR) es el tratamiento de elección para los niños que se encuentran en insuficiencia renal terminal. Los criterios de inclusión se han ido ampliando de manera progresiva al conocerse que su mortalidad es menor que la que ocurre en diálisis y proporciona una mejor calidad de vida. La histocompatibilidad y la fuente de donación son, de entre los numerosos factores que influyen en la supervivencia del injerto, los de mayor relevancia. La supervivencia del injerto y la del paciente han mejorado de forma espectacular en las últimas décadas, aproximándose a los resultados del TR en el adulto. La diferencia de tamaño entre donante y receptor, la afectación del crecimiento y la falta de cumplimiento terapéutico, son algunos de los factores específicos que lo diferencian del adulto.La supervivencia global del injerto a los 5 años es del 90% para el TR de donante vivo y del 70% para el TRde donante cadáver.La causa más frecuente de pérdida del injerto es el rechazo crónico. La mortalidad en los primeros años post-trasplante es inferior al 6,5%. La infección y las complicaciones cardiovasculares son las causas principales de muerte relacionada con el trasplante.Sin embargo, a pesar de estos buenos resultados, es preciso continuar investigando en cómo alcanzar la tolerancia inmunológica, que permita reducir el tratamiento inmunosupresor y sus efectos colaterales, entre los que se encuentra el rechazo crónico; y así poder mejorar los resultados a largo plazo del injerto renal.

Trasplante renal pediátrico / Pediatric kidney transplant

El Trasplante Renal (TR) es el tratamientode elección para los niños que se encuentran en insufi-ciencia renal terminal. Los criterios de inclusión se hanido ampliando de manera progresiva al conocerse quesu mortalidad es menor que la que ocurre en diálisis yproporciona una mejor calidad de vida. La histocompatibilidad y la fuente de donación son, de entre losnumerosos factores que influyen en la supervivencia delinjerto, los de mayor relevancia. La supervivencia delinjerto y la del paciente han mejorado de forma espectacular en las últimas décadas, aproximándose a losresultados del TR en el adulto. La diferencia de tamañoentre donante y receptor, la afectación del crecimientoy la falta de cumplimiento terapéutico, son algunos delos factores específicos que lo diferencian del adulto. La supervivencia global del injerto a los 5 años es del90% para el TR de donante vivo y del 70% para el TRde donante cadáver.La causa más frecuente de pérdida del injerto es elrechazo crónico. La mortalidad en los primeros añospost-trasplante es inferior al 6,5%. La infección y lascomplicaciones cardiovasculares son las causas principales de muerte relacionada con el trasplante.Sin embargo, a pesar de estos buenos resultados, espreciso continuar investigando en cómo alcanzar latolerancia inmunológica, que permita reducir el tratamiento inmunosupresor y sus efectos colaterales, entrelos que se encuentra el rechazo crónico; y así podermejorar los resultados a largo plazo del injerto renal.(AU)

Kidney transplantation (KT) is the besttreatment for children in end-stage renal disease. KT hasless mortality than dialysis and provides a better qualityof life. Thus, the inclusion criteria have been progressively broadened. Histocompatibility and the source ofdonation are the most relevant factors that influence graftsurvival. Graft and patient survival have improved dramatically in recent decades, coming close to the resultsof KT in adults. Some of the specific factors that differentiate it from the adult are: donor-recipient size mismatch,the impact on growth and therapeutic non-compliance.Overall graft survival at 5-years is 90% for living donorKT and 70% for cadaveric donor KT.The most frequent cause of graft loss is chronic rejection. Mortality in the first post-transplant years is less than 6.5%. Infections and cardiovascular complications arethe main causes of transplant-related death.Despite the good results, it is imperative to continue investigating how to achieve immunological tolerance. Inorder to improve the long-term results of the kidney graftis necessary to reduce immunosuppressive treatment andits side effects, such as chronic rejection.(AU)

Creation of Tissue-Engineered Urethras for Large Urethral Defect Repair in a Rabbit Experimental Model.

Introduction: Tissue engineering is a potential source of urethral substitutes to treat severe urethral defects. Our aim was to create tissue-engineered urethras by harvesting autologous cells obtained by bladder washes and then using these cells to create a neourethra in a chronic large urethral defect in a rabbit model. Methods: A large urethral defect was first created in male New Zealand rabbits by resecting an elliptic defect (70 mm2) in the ventral penile urethra and then letting it settle down as a chronic defect for 5-6 weeks. Urothelial cells were harvested noninvasively by washing the bladder with saline and isolating urothelial cells. Neourethras were created by seeding urothelial cells on a commercially available decellularized intestinal submucosa matrix (Biodesign® Cook-Biotech®). Twenty-two rabbits were divided into three groups. Group-A (n = 2) is a control group (urethral defect unrepaired). Group-B (n = 10) and group-C (n = 10) underwent on-lay urethroplasty, with unseeded matrix (group-B) and urothelial cell-seeded matrix (group-C). Macroscopic appearance, radiology, and histology were assessed. Results: The chronic large urethral defect model was successfully created. Stratified urothelial cultures attached to the matrix were obtained. All group-A rabbits kept the urethral defect size unchanged (70 ± 2.5 mm2). All group-B rabbits presented urethroplasty dehiscence, with a median defect of 61 mm2 (range 34-70). In group-C, five presented complete correction and five almost total correction with fistula, with a median defect of 0.3 mm2 (range 0-12.5), demonstrating a significant better result (p = 7.85 × 10-5). Urethrography showed more fistulas in group-B (10/10, versus 5/10 in group-C) (p = 0.04). No strictures were found in any of the groups. Group-B histology identified the absence of ventral urethra in unrepaired areas, with squamous cell metaplasia in the edges toward the defect. In group-C repaired areas, ventral multilayer urothelium was identified with cells staining for urothelial cell marker cytokeratin-7. Conclusions: The importance of this study is that we used a chronic large urethral defect animal model and clearly found that cell-seeded transplants were superior to nonseeded. In addition, bladder washing was a feasible method for harvesting viable autologous cells in a noninvasive way. There is a place for considering tissue-engineered transplants in the surgical armamentarium for treating complex urethral defects and hypospadias cases.

Long-Term Renal Transplant Outcome in Patients With Posterior Urethral Valves. Prognostic Factors Related to Bladder Dysfunction Management.

Introduction: To obtain a successful renal transplant (RT) outcome in patients with posterior urethral valves (PUV), it is necessary to accomplish an adequate bladder dysfunction treatment. Our aim was to determine prognostic factors related to bladder dysfunction management in long-term RT outcome in patients with PUV. Methods: A retrospective review of patients with PUV who received a first RT after 1985 in our institution with at least 5 years of follow-up was performed. Variables analyzed included prenatal diagnosis, age of diagnosis, initial presentation and management, bladder dysfunction treatment, other surgical treatments, pre-transplant dialysis, age of transplantation, type of donor, immunosuppression regimen, vascular and urological complications, rejections episodes, and graft survival. Results: Fifty-one patients were included in the analysis. Prenatal diagnosis was done in 37.3%. Median age of diagnosis was 0.30 (0-88) months. Initial presentation was vesicoureteral reflux (VUR) in 78% and obstructive ureterohydronefrosis in 35.3%. Initial management was valve ablation (29.4%), pyelo-ureterostomy (64.7%), and vesicostomy (5.9%). In 33.3%, a type of bladder dysfunction treatment was performed: 21.6% bladder augmentation (BA), 15.7% Mitrofanoff procedure, 17.6% anticholinergic drugs, and 27.5% clean intermittent catheterization (CIC). Pre-transplant dialysis was received by 66.7%. Transplantation was performed at 6.28 ± 5.12 years, 62.7% were cadaveric and 37.3% living-donor grafts. Acute rejection episodes were found in 23.6%. Urological complications included recurrent urinary tract infections (UTIs) (31.4%); native kidneys VUR (31.4%); graft VUR (45.1%); and ureteral obstruction (2%). Vascular complications occurred in 3.9%. Mean graft survival was 11.1 ± 6.9 years. Analyzing the prognostic factor that influenced graft survival, patients with had CIC or a Mitrofanoff procedure had a significant better long-term graft survival after 10 years of follow-up (p < 0.05), despite of the existence of more recurrent UTIs in them. A better graft survival was also found in living-donor transplants (p < 0.05). No significant differences were observed in long-term graft survival regarding native kidneys or graft VUR, BA, immunosuppression regimen, or post-transplant UTIs. Conclusion: Optimal bladder dysfunction treatment, including CIC with or without a Mitrofanoff procedure, might result in better long-term graft survival in patients with PUV. These procedures were not related to a worse RT outcome in spite of being associated with more frequent UTIs.

Upside-down kidney placement: An alternative in pediatric renal transplantation.

PURPOSE: "Upside-down" kidney placement has been reported as an acceptable alternative in cases of technical difficulty in kidney transplantation but there are few reports in the pediatric population. The aim of our study is to analyze whether the placement of the upside-down kidney could affect graft outcome or produce more complications. MATERIALS AND METHODS: A retrospective study was conducted of pediatric kidney transplants performed in our center between 2005 and 2017 with at least 6 months' follow-up. Epidemiological and anthropometric data, type of donor (deceased/living), graft position (normal/upside-down), reason for the upside-down placement, early, medium and long-term complications and renal function were analyzed and compared with patients transplanted in the same period with a normal graft placement. RESULTS: From 181 transplants, 167 grafts were placed in a normal position (mean age: 10 y and mean weight: 30 kg) and 14 were placed upside-down (10 y, 37 kg) mainly because of vessel shortness after laparoscopic nephrectomy. Male predominance was observed in both groups. 57% of grafts from the control group and 64% of those from study group came from a living donor. Four vascular and two ureteral re-anastomoses were recorded in the control group and two vascular and one ureteral re-anastomosis in the study group (p > 0.05). In the latter group, no grafts have been lost due to vascular or urological causes and no patients have required dialysis. CONCLUSIONS: When necessary, an upside-down placement for the renal graft is a safe alternative in the pediatric population. LEVEL OF EVIDENCE: Level III.

Long-term outcomes of adult-size and size-matched kidney transplants in small pediatric recipients.

INTRODUCTION: Adult-size kidneys are usually used for kidney transplantation in small pediatric recipients, but the influence of graft size in transplant outcome remains controversial. Our aim is to compare long-term transplant outcomes of using adult-size and size-matched kidneys in small pediatric recipients. MATERIALS AND METHODS: Since 1999, 61 of 226 kidney transplants were achieved in recipients weighing <20 kg with 5 years of follow-up. Patients were analyzed according to the graft size received: (group-A) adult-size (n = 32), (group-B) size-matched (n = 29). Kidney size (KS), glomerular filtration rate (GFR) proteinuria and rejection were compared between groups at transplant time (T0), at one (T1), two (T2), five years (T5), and at the end of the follow-up (TF) (median follow-up 8.47(0-17) years). Graft and patient survival were determined and compared between groups. RESULTS: Mean KS was significantly different between groups at T0 (A:11.3 ± 1.1 cm, B:8.8 ± 0.9 cm), (pT0<0.01), group-B evidenced graft growth, reaching similar sizes to group-A at T5 (A:11.7±1 cm, B:11.2±1 cm; pT5 = 0.13) and TF (A:12.2 ± 1.1 cm, B:12.4 ± 1.2 cm; pTF = 0.63), and group-A had a slight graft growth at TF (pT0-TF<0.01). Mean Schwartz-GFR at T0 was greater in group-A (138 ± 33 ml/min/1.73 m2) than group-B (109 ± 34 mL/min/1.73 m2) (pT0 = 0.01); during follow-up, it evidenced a reduction in group-A (T5:90 ± 27, TF:71 ± 24 mL/min/1.73 m2; pT0-T5<0.01; pT0-TF<0.01), meanwhile in group-B was stable until T5 (104 ± 33 mL/min/1.73 m2; pT0-T5 = 0.54), declining at TF (76 ± 31 mL/min/1.73 m2; pT0-TF<0.01); with no significant differences at T1, T2, T5, and TF between groups. Similar results were observed in mean Filler-GFR of both groups (Figure). Proteinuria and episodes of rejection were no significantly different between groups during the follow-up (p > 0.01; p = 0.23). Graft and patient survival at 5 and 10 years did not show significant differences (p = 0.45; p = 0.10). DISCUSSION: Despite the initial kidney size difference between groups, we have demonstrated that they tended to the same size during the follow-up. Adult-size kidneys presented a slight size increase in the long-term, suggesting that they have some growth potential in small recipients, in contrast to previous literature. Mean GFR between groups showed no significant differences in the long-term, suggesting that optimal graft perfusion and function can be achieved despite the size of the graft. We have demonstrated that there were no significant differences in long-term graft and patient survival; this results were similar to the most recent literature about this topic and different from the 90-2000s decades literature. CONCLUSIONS: Adult-size kidneys may be transplanted to small recipients (<20 kg) with comparable outcomes to size-matched kidneys, with no significant differences in long-term KS, GFR, proteinuria, rejection, graft or patient survival.

Alpelisib Treatment for Genital Vascular Malformation in a Patient with Congenital Lipomatous Overgrowth, Vascular Malformations, Epidermal Nevi, and Spinal/Skeletal Anomalies and/or Scoliosis (CLOVES) Syndrome.

BACKGROUND: Most patients with phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA)-related overgrowth spectrum become symptomatic early in life and need treatment before puberty. Recently, the specific inhibition of PIK3CA pathways has been proposed as a therapeutic option for these patients improving their surgical options and quality of life. Alpelisib, a specific alpha fraction inhibitor, has shown promising results. CASE: A 17-year-old girl presented with severe involvement of her external genitalia with a combined vascular malformation in the context of congenital, lipomatous, overgrowth, vascular malformations, epidermal nevi and spinal/skeletal anomalies and/or scoliosis syndrome, needing frequent blood transfusions for anemia due to vaginal bleeding and use of a crutch for walking. After failure of treatment with rapamycin, compassionate treatment with alpelisib was started with excellent response. SUMMARY AND CONCLUSION: PIK3CA inhibitors might become a new option of treatment for PIK3CA-related overgrowth spectrum patients.

Guía de actuación en las anomalías de la diferenciación sexual (ADS) / desarrollo sexual diferente (DSD) / Management guidelines for disorders / different sex development (DSD)

Las anomalías de la diferenciación sexual (ADS) engloban un amplio espectro de discordancias entre los criterios cromosómico, gonadal y fenotípico (genital) que definen la diferenciación sexual; actualmente, se aboga por la denominación de «desarrollo sexual diferente» (DSD). Su origen es congénito; se clasifican en función de los cromosomas sexuales presentes en el cariotipo; las causas genéticas conocidas son muy diversas y heterogéneas, aunque algunos casos pueden ser secundarios a factores maternos o medioambientales. Su diagnóstico y tratamiento requieren siempre una atención médica y psicosocial multidisciplinar. El diagnóstico etiológico precisa la interacción entre las exploraciones clínicas, bioquímicas (hormonales), genéticas, de imagen y, eventualmente, quirúrgicas. El tratamiento debe abordar la asignación de género, la posible necesidad de tratamiento hormonal substitutivo (suprarrenal si hay insuficiencia suprarrenal y con esteroides sexuales si hay insuficiencia gonadal a partir de la edad puberal), la necesidad de intervenciones quirúrgicas sobre las estructuras genitales (actualmente se tiende a diferirlas) y/o sobre las gónadas (en función de los riesgos de malignización), la necesidad de apoyo psicosocial y, finalmente, una adecuada programación de la transición a la atención médica en las especialidades de adultos. Las asociaciones de personas afectadas tienen un papel fundamental en el apoyo a familias y la interacción con los medios profesionales y sociales. La utilización de Registros y la colaboración entre profesionales en Grupos de Trabajo de sociedades médicas nacionales e internacionales es fundamental para avanzar en mejorar los medios diagnósticos y terapéuticos que precisan los DSD

Disorders of Sex Development (DSD) include a wide range of anomalies among the chromosomal, gonadal, and phenotypic (genital) characteristics that define sexual differentiation. At present, a definition as Different Sexual Development (DSD) is currently preferred. They originate in the pre-natal stage, are classified according to the sex chromosomes present in the karyotype. The known genetic causes are numerous and heterogeneous, although, in some cases, they may be secondary to maternal factors and/or exposure to endocrine-disrupting chemicals (EDCs). The diagnosis and treatment of DSD always requires multidisciplinary medical and psychosocial care. An aetiological diagnosis needs the interaction of clinical, biochemical (hormonal), genetic, imaging and, sometimes, surgical examinations. The treatment should deal with sex assignment, the possible need for hormone replacement therapy (adrenal if adrenal function is impaired, and with sex steroids from pubertal age if gonadal function is impaired), as well as the need for surgery on genital structures (currently deferred when possible) and/or on gonads (depending on the risk of malignancy), the need of psychosocial support and, finally, an adequate organisation of the transition to adult medical specialties. Patient Support Groups have a fundamental role in the support of families, as well as the interaction with professional and social media. The use of Registries and the collaboration between professionals in Working Groups of national and international medical societies are crucial for improving the diagnostic and therapeutic tools required for the care of patients with DSD

[Management guidelines for disorders / different sex development (DSD)]. / Guía de actuación en las anomalías de la diferenciación sexual (ADS) / desarrollo sexual diferente (DSD).

Disorders of Sex Development (DSD) include a wide range of anomalies among the chromosomal, gonadal, and phenotypic (genital) characteristics that define sexual differentiation. At present, a definition as Different Sexual Development (DSD) is currently preferred. They originate in the pre-natal stage, are classified according to the sex chromosomes present in the karyotype. The known genetic causes are numerous and heterogeneous, although, in some cases, they may be secondary to maternal factors and/or exposure to endocrine-disrupting chemicals (EDCs). The diagnosis and treatment of DSD always requires multidisciplinary medical and psychosocial care. An aetiological diagnosis needs the interaction of clinical, biochemical (hormonal), genetic, imaging and, sometimes, surgical examinations. The treatment should deal with sex assignment, the possible need for hormone replacement therapy (adrenal if adrenal function is impaired, and with sex steroids from pubertal age if gonadal function is impaired), as well as the need for surgery on genital structures (currently deferred when possible) and/or on gonads (depending on the risk of malignancy), the need of psychosocial support and, finally, an adequate organisation of the transition to adult medical specialties. Patient Support Groups have a fundamental role in the support of families, as well as the interaction with professional and social media. The use of Registries and the collaboration between professionals in Working Groups of national and international medical societies are crucial for improving the diagnostic and therapeutic tools required for the care of patients with DSD.

Tumores testiculares en la edad pediátrica: indicaciones de la cirugía conservadora / Testicular tumours in children: Indications for testis-sparing surgery

INTRODUCCIÓN Y OBJETIVOS: El tratamiento quirúrgico estándar del tumor testicular es la orquiectomía, sin embargo, se podría recurrir a la cirugía conservadora en casos seleccionados, basándonos en la edad del paciente, marcadores tumorales, tamaño tumoral y hallazgos histopatológicos. Nuestro objetivo es dar a conocer cuáles son las variables que tener en cuenta para indicar una cirugía conservadora como tratamiento de una masa testicular palpable y no palpable encontrada como hallazgo incidental. MATERIAL Y MÉTODOS: Estudio retrospectivo en 22 pacientes menores de 18 años, diagnosticados de tumor testicular entre 2000 y 2014. Revisamos el motivo de consulta, antecedentes, ecografía, estudio histopatológico, marcadores tumorales (BHCG, AFP), actitud terapéutica y evolución. RESULTADOS: De los 22 pacientes (10 prepuberales), el 82% presentaron masa palpable y el 18% fueron hallazgos incidentales. Dos presentaban criptorquidia. La BHCG estaba aumentada en el 27% y la AFP en el 45%. Se realizaron 18 orquiectomías y 4 tumorectomías. La histología fue en un 72% de células germinales, 14 orquiectomías y 2 tumorectomías (2 teratomas); y en un 27% de tumores de células no germinales, en 4 orquiectomías y 2 tumorectomías (2 tumores de células de Leyding). Seis pacientes recibieron quimioterapia postoperatoria (tumores mixtos). La mediana del tamaño de la tumoración fue de un cm (0,4-1,5) en las tumorectomías y de 2,5 cm (0,5-14) en las orquiectomías. El seguimiento fue de 5 años (1-15). Un paciente falleció por enfermedad metastásica. No hubo recidiva local en la evolución de las tumorectomías. CONCLUSIONES: Ponemos de manifiesto una tendencia al cambio en nuestra actitud terapéutica. Planteamos una cirugía conservadora mediante tumorectomía en los pacientes que cumplan con los criterios de benignidad de la masa testicular (pequeño tamaño y marcadores tumorales negativos)

INTRODUCTION AND OBJECTIVES: Although standard surgical treatment of a testicular tumour is orchiectomy, use can be made of testis-sparing surgery in selected cases, based on tumour markers, tumour size, and histopathological findings. Our objective is to become acquainted with the indications of testis-sparing surgery as a treatment for the incidental finding of a palpable and non-palpable testicular mass. MATERIAL AND METHODS: A retrospective study was conducted on 22 patients younger than 18 years diagnosed with a testicular tumour between 2000 and 2014. An assessment was made of the condition, the history, ultrasound, histopathology, tumour markers (BHCG, AFP), therapeutic approach, and outcome. RESULTS: Of the 22 patients (10 prepubertal age) studied, 82% had palpable mass, and 18% were incidental findings. Two had cryptorchidism. The BHCG was increased in 27% and AFP in 45% of cases. There were 18 tumorectomies and 4 orchiectomies performed. The histopathology found 72% germ cell, 14 orchiectomy, and 2 tumorectomies (2 teratomas), with 27% non-germ cell tumours in 4 orchiectomies and 2 tumorectomies (2 cells of Leydig). Six patients received post-surgical chemotherapy (mixed tumours). The median tumour size was 1 (0.4-1.5) cm in tumorectomies, and 2.5 (0.5-14) cm in orchiectomies. The mean follow-up was 5 (1-15) years. One patient died due to metastatic disease. There was no local recurrence in the follow up of the tumorectomies. CONCLUSIONS: A change in the trend of our therapeutic approach is demonstrated. We propose that testis-sparing surgery is indicated in prepubertal patients who meet the benignity criteria of the testicular mass (small size and negative tumour markers)

[Testicular tumours in children: Indications for testis-sparing surgery]. / Tumores testiculares en la edad pediátrica: indicaciones de la cirugía conservadora.

INTRODUCTION AND OBJECTIVES: Although standard surgical treatment of a testicular tumour is orchiectomy, use can be made of testis-sparing surgery in selected cases, based on tumour markers, tumour size, and histopathological findings. Our objective is to become acquainted with the indications of testis-sparing surgery as a treatment for the incidental finding of a palpable and non-palpable testicular mass. MATERIAL AND METHODS: A retrospective study was conducted on 22 patients younger than 18 years diagnosed with a testicular tumour between 2000 and 2014. An assessment was made of the condition, the history, ultrasound, histopathology, tumour markers (BHCG, AFP), therapeutic approach, and outcome. RESULTS: Of the 22 patients (10 prepubertal age) studied, 82% had palpable mass, and 18% were incidental findings. Two had cryptorchidism. The BHCG was increased in 27% and AFP in 45% of cases. There were 18 tumorectomies and 4 orchiectomies performed. The histopathology found 72% germ cell, 14 orchiectomy, and 2 tumorectomies (2 teratomas), with 27% non-germ cell tumours in 4 orchiectomies and 2 tumorectomies (2 cells of Leydig). Six patients received post-surgical chemotherapy (mixed tumours). The median tumour size was 1 (0.4-1.5) cm in tumorectomies, and 2.5 (0.5-14) cm in orchiectomies. The mean follow-up was 5 (1-15) years. One patient died due to metastatic disease. There was no local recurrence in the follow up of the tumorectomies. CONCLUSIONS: A change in the trend of our therapeutic approach is demonstrated. We propose that testis-sparing surgery is indicated in prepubertal patients who meet the benignity criteria of the testicular mass (small size and negative tumour markers).