Zinner Syndrome in Young Adult Males: A Case Series and Literature Review.

Zinner syndrome (ZS) is a highly uncommon congenital or developmental urogenital anomaly characterized by the triumvirate of unilateral renal agenesis or dysplasia, ipsilateral ejaculatory duct obstruction, and ipsilateral seminal vesicle cyst. We present three cases of ZS in a 21-year-old male, a 20-year-old male, and a 24-year-old male. The diagnostic evaluation revealed unilateral renal agenesis associated with hypertrophy of the ipsilateral seminal vesicle with cystic changes on investigation by ultrasonography (USG), computed tomography (CT), and magnetic resonance imaging (MRI). The patients underwent surgical management, resulting in symptom resolution and enhanced quality of life. This case report highlights the diagnostic challenges, management options, and long-term outcomes for patients with ZS.

Prevalencia de patología urogenital en la consulta ambulatoria de varones adolescentes. Estudio descriptivo transversal / Prevalence of urogenital disease in male adolescent outpatient visits. A descriptive, cross-sectional study

Introducción. El examen genital en varones es una evaluación clínica simple y rápida para detectar patología urogenital. Los datos sobre prevalencia de patología urogenital en varones adolescentes son limitados. Nuestro objetivo fue describir la prevalencia de patología urogenital en varones adolescentes. Población y métodos. Estudio descriptivo transversal en el Servicio de Adolescencia de un hospital público de la Ciudad de Buenos Aires. Se evaluaron retrospectivamente las historias clínicas (HC) de varones de 9 a 20 años atendidos entre 2008 y 2018; se incluyeron las que tenían examen genital. Se recabaron datos de edad, estadio puberal, orquidometría, patología urogenital antes de la adolescencia y al momento de la consulta. La prevalencia se expresó en porcentaje e intervalo de confianza del 95 % (IC95%). Se estimó necesario incluir 1167 HC como muestra poblacional. Resultados. Se evaluaron 2129 HC; se incluyeron 1429. En 686 casos no se hizo el examen genital. La población tuvo una mediana de edad de 12 años (rango intercuartílico 11-14 años). En 72 varones (5,7 %; IC95% 4,5-7,2), se halló una enfermedad genitourinaria antes de la adolescencia. Se detectó al menos una patología urogenital en 272 adolescentes (14,8 %; IC95% 13,1-16,7); las más frecuentes fueron adherencia balanoprepucial 5,3 % (IC95% 4,2-6,6), varicocele 2,7 % (IC95% 2-3,7) y fimosis 1,8 % (IC95% 1,2-2,6). Conclusiones. El examen genital permitió detectar que el 14,8 % de los varones adolescentes atendidos presentó alguna patología urogenital. Las entidades más frecuentes fueron adherencia balanoprepucial, varicocele y fimosis.

Introduction. The male genital exam is a simple and quick assessment to look for urogenital disease. Data on the prevalence of urogenital disease in male adolescents are limited. Our objective was to describe the prevalence of urogenital disease in male adolescents. Population and methods. Descriptive, cross-sectional study conducted at the Department of Adolescenceof a public hospital in the City of Buenos Aires. The medical records of male patients aged 9 to 20 years seen between 2008 and 2018 were retrospectively reviewed; all those with a genital exam were included. Data on age, pubertal stage, orchidometry, and urogenital disease before adolescence and at the time of consultation were recorded. The prevalence was described as percentage and 95% confidence interval (CI).As per estimations, 1167 medical records had to be included to establish the population sample. Results. A total of 2129 medical records were assessed and 1429 were included. No genital exam had been conducted in 686 cases. The median age of the population was 12 years (interquartile range: 11­14 years). Urogenital disease before adolescence was detected in 72 boys (5.7%; 95% CI: 4.5­7.2). Urogenital disease was found in 272 adolescents (14.8%; 95% CI: 13.1­16.7); the most common conditions were balanopreputial adhesions in 5.3% (95% CI: 4.2­6.6), varicocele in 2.7% (95% CI: 2­3.7), and phimosis in 1.8% (95% CI: 1.2­2.6). Conclusions. A genital exam allowed to detect that 14.8% of adolescent boys had a urogenital diseaseThe most common conditions were balanopreputial adhesions, varicocele, and phimosis.

Kidney and urogenital abnormalities in Down syndrome: a meta-analysis.

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

OIES complex diagnosed by in utero ultrasound a case report.

INTRODUCTION AND IMPORTANCE: OEIS complex is a rare and complex anomaly of the genitourinary and intestinal tract. It includes Omphalocele, Exstrophy of cloaca, Imperforate anus and Spinal defects. PRESENTATION OF CASE: We are reporting a case of OEIS complex. CLINICAL DISCUSSION: Cloacal exstrophy is considered the most severe ventral abdominal wall defect. Diagnosis is primarily antenatal based on the presenting features on ultrasonography. Management requires initial resuscitation and stabilization followed by either single staged closure or multistage procedures by multi-disciplinary surgical team. CONCLUSION: The introduction of better diagnostic techniques and the detection of fetal malformations during pregnancy is it's the cornerstone of care.

Prevalence of urogenital disease in male adolescent outpatient visits. A descriptive, cross-sectional study. / Prevalencia de patología urogenital en la consulta ambulatoria de varones adolescentes. Estudio descriptivo transversal.

Introduction. The male genital exam is a simple and quick assessment to look for urogenital disease. Data on the prevalence of urogenital disease in male adolescents are limited. Our objective was to describe the prevalence of urogenital disease in male adolescents. Population and methods. Descriptive, cross-sectional study conducted at the Department of Adolescence of a public hospital in the City of Buenos Aires. The medical records of male patients aged 9 to 20 years seen between 2008 and 2018 were retrospectively reviewed; all those with a genital exam were included. Data on age, pubertal stage, orchidometry, and urogenital disease before adolescence and at the time of consultation were recorded. The prevalence was described as percentage and 95% confidence interval (CI). As per estimations, 1167 medical records had to be included to establish the population sample. Results. A total of 2129 medical records were assessed and 1429 were included. No genital exam had been conducted in 686 cases. The median age of the population was 12 years (interquartile range: 11-14 years). Urogenital disease before adolescence was detected in 72 boys (5.7%; 95% CI: 4.5- 7.2). Urogenital disease was found in 272 adolescents (14.8%; 95% CI: 13.1-16.7); the most common conditions were balanopreputial adhesions in 5.3% (95% CI: 4.2-6.6), varicocele in 2.7% (95% CI: 2-3.7), and phimosis in 1.8% (95% CI: 1.2-2.6). Conclusions. A genital exam allowed to detect that 14.8% of adolescent boys had a urogenital disease. The most common conditions were balanopreputial adhesions, varicocele, and phimosis.

Introducción. El examen genital en varones es una evaluación clínica simple y rápida para detectar patología urogenital. Los datos sobre prevalencia de patología urogenital en varones adolescentes son limitados. Nuestro objetivo fue describir la prevalencia de patología urogenital en varones adolescentes. Población y métodos. Estudio descriptivo transversal en el Servicio de Adolescencia de un hospital público de la Ciudad de Buenos Aires. Se evaluaron retrospectivamente las historias clínicas (HC) de varones de 9 a 20 años atendidos entre 2008 y 2018; se incluyeron las que tenían examen genital. Se recabaron datos de edad, estadio puberal, orquidometría, patología urogenital antes de la adolescencia y al momento de la consulta. La prevalencia se expresó en porcentaje e intervalo de confianza del 95 % (IC95%). Se estimó necesario incluir 1167 HC como muestra poblacional. Resultados. Se evaluaron 2129 HC; se incluyeron 1429. En 686 casos no se hizo el examen genital. La población tuvo una mediana de edad de 12 años (rango intercuartílico 11-14 años). En 72 varones (5,7 %; IC95% 4,5-7,2), se halló una enfermedad genitourinaria antes de la adolescencia. Se detectó al menos una patología urogenital en 272 adolescentes (14,8 %; IC95% 13,1-16,7); las más frecuentes fueron adherencia balanoprepucial 5,3 % (IC95% 4,2-6,6), varicocele 2,7 % (IC95% 2-3,7) y fimosis 1,8 % (IC95% 1,2-2,6). Conclusiones. El examen genital permitió detectar que el 14,8 % de los varones adolescentes atendidos presentó alguna patología urogenital. Las entidades más frecuentes fueron adherencia balanoprepucial, varicocele y fimosis.

Thoracic kidney and diaphragmatic hernia: prenatal diagnosis and successful management. Case report and review of the literature / Riñón torácico y hernia diafragmática: diagnóstico prenatal y manejo exitoso. Reporte de caso y revisión de la literatura.

Objectives: To report a case of prenatal diagnosis of ectopic intrathoracic kidney with diaphragmatic hernia managed surgically after birth, and to conduct a review of the literature on prenatal diagnosis of ectopic intrathoracic kidney and perinatal prognosis. Material and methods: We report the case of a 28-week fetus in which, on ultrasound imaging, a mass was observed displacing the heart and lung in the right hemithorax, which was was confirmed by magnetic resonance (MR) to be an ectopic intrathoracic kidney (ITEK). After birth, the neonate was approached by laparoscopy to place a mesh in continuity with the diaphragm, leaving the kidney in the abdomen, with good evolution. A search was conducted in the PubMed, Embase and Cochrane databases for cohorts, case reports and case series of prenatal diagnosis of intrathoracic kidney in the fetus. Information was retrieved regarding design, population, imaging diagnosis, treatment and prognosis. Results: The search identified 8 studies that met the inclusion criteria, reporting a total of 8 cases. Ultrasound diagnosis showed ectopic intrathoracic kidney associated with diaphragmatic hernia in all the subjects. Fetal magnetic resonance imaging (MRI) was also used in 5 cases. Conclusions: Ectopic intrathoracic kidney is a congenital abnormality amenable to prenatal diagnosis. Survival after corrective surgery performed in the neonatal period is common. There is a paucity of publications, limited to case reports, regarding the prenatal diagnosis of this condition.

Objetivos: reportar un caso de diagnóstico prenatal de riñón ectópico intratorácico (REI) con hernia diafragmática y manejo quirúrgico neonatal, y hacer una revisión de la literatura sobre diagnóstico prenatal de REI y el pronóstico perinatal. Materiales y métodos: se reporta el caso de un feto de 28 semanas en el que se observó imagen ecográfica sugestiva de masa en hemitórax derecho que desplazaba corazón y pulmón; se confirmó que correspondía a un riñón intratorácico. Por laparoscopia, al recién nacido se le colocó una malla en continuidad con el diafragma dejando el riñón en el abdomen, con buena evolución. Se realizó una búsqueda bibliográfica en PubMed, Embase y Cochrane. Se buscaron cohortes, reportes y series de caso de gestaciones con diagnóstico prenatal de riñón intratorácico fetal. Se extrajo información del diseño, la población, el diagnóstico por imágenes, el tratamiento y el pronóstico. Resultados: en la búsqueda se identificaron 8 estudios que cumplieron con los criterios de inclusión y que informan en total ocho casos. El diagnóstico ecográfico mostró REI asociado a hernia diafragmática en todos los sujetos. Se utilizó también la RM fetal en cinco casos. Seis neonatos sobrevivieron sin complicaciones, en uno hubo interrupción voluntaria del embarazo, y otro presentó sepsis y dificultad respiratoria, finalmente fue dado de alta en buenas condiciones. Conclusiones: el REI es una anomalía congénita susceptible de diagnóstico prenatal. La sobrevida a la cirugía correctora en el periodo neonatal es frecuente. La literatura disponible en torno al diagnóstico prenatal de REI es escasa y se limita a reportes de casos.

From Genes to Ambiguity: A Case Study Exploring the Enigmatic Connection Between Chromosome 13q Deletion Syndrome and Ambiguous Genitalia.

During development, the deletion of DNA from chromosome 13's short arm (q) causes a chromosomal abnormality known as chromosome 13q deletion syndrome. Chromosome 13 terminal deletions are rare and may cause various congenital disabilities, and only a few cases have been reported in the literature. The extent of chromosome 13q deletion syndrome changes lacks consistent clinical features, with no recorded cases of genital ambiguity until now. We report the case of a newborn male patient whose testes had descended on both sides; he had ambiguous genitalia, and the dorsal surface of his penis was attached to his scrotal sac. An abnormal karyotype (46, XY, deletion (13) q33) was discovered by using a G-banding analysis of chromosomes in a blood sample taken from the periphery, which revealed a deletion of chromosome 13 at the end of the first 10 cells. We can better characterize chromosome 13q deletions by establishing stronger correlations between karyotype and the distinctive phenotypes of haploinsufficient genes found on the chromosome.

Factores de riesgo asociados a anomalías congénitas renales y de vías urinarias / Risk factors associated with congenital renal and urinary tract anomalies

Introducción: Las anomalías congénitas renales y de las vías urinarias constituyen la principal causa de enfermedad renal crónica en la edad pediátrica. Su etiología es multifactorial. Intervienen factores maternos, genéticos y ambientales. En Cuba, las afecciones congénitas del riñón y las vías urinarias constituyen una latente preocupación y aunque se ha incrementado el diagnóstico prenatal de las mismas, el número de pacientes diagnosticados es alto. Objetivo: Contribuir al conocimiento de la comunidad científica en relación con los factores de riesgo asociados a las anomalías del desarrollo renal. Métodos: Se realizó una revisión sistemática de la literatura médica disponible en las bases de datos Ebsco, SciELO, Scopus, Pubmed, revistas de nefrología pediátrica, pediatría, genética y teratología; y en la red social académica: Researchgate. Se accedió, durante los últimos cinco años, a varios artículos publicados en español y en inglés. Se utilizaron los descriptores Congenital anomalies of the kidney and urinary tract, hydronephrosis, risk factors, prenatal diagnosis, congenital abnormalities. Conclusiones: La presencia de la diabetes, desde la etapa preconcepcional y durante las primeras semanas del embarazo, la obesidad, las dietas maternas bajas en proteínas, y las alteraciones de la fertilidad, se asocian a las anomalías del desarrollo renal. Existen factores de riesgo específicos para determinados tipos de defectos congénitos renales y de las vías urinarias. No se considera, que el consumo del ácido fólico tenga un papel protector sobre las alteraciones de la embriogénesis renal, por lo que se recomienda ser cauteloso con la dosis que se administra a las embarazadas.

Introduction: congenital renal and urinary tract anomalies are the main cause of chronic kidney disease in children. Its etiology is multifactorial. Maternal, genetic and environmental factors are involved. In Cuba, congenital renal and urinary tract affections constitute a latent concern, and although their prenatal diagnoses have increased, the number of diagnosed patients is high. Objective: to contribute to the knowledge of the scientific community in relation to the risk factors associated with renal developmental anomalies. Methods: a systematic review of the available medical literature was carried out in Ebsco, SciELO, Scopus and Pubmed databases, in pediatric nephrology, pediatrics, genetics, and teratology journals as well as in the academic social network: Researchgate. Several articles published in Spanish and English languages were accessed during the last five years. The used descriptors were congenital anomalies of the kidney and urinary tract, hydronephrosis, risk factors, prenatal diagnosis and congenital abnormalities. Conclusions: the presence of diabetes, from the preconceptional stage and during the first weeks of pregnancy, obesity, maternal diets low in protein, and fertility disorders, are associated with renal developmental anomalies. There are specific risk factors for certain types of kidney and urinary tract birth defects. It is not considered that the consumption of folic acid has a protective role on the alterations of renal embryogenesis, so it is recommended to be cautious with the dose administered to pregnant women.

Riñon torácico y hernia diafragmática: diagnóstico prenatal y manejo exitoso. Reporte de caso y revisión de la literatura / Thoracic kidney and diaphragmatic hernia: prenatal diagnosis and successful management. Case report and review of the literature

Objetivos: Reportar un caso de diagnóstico prenatal de riñón ectópico intratorácico (REI) con hernia diafragmática y manejo quirúrgico neonatal, y hacer una revisión de la literatura sobre diagnóstico prenatal de REI y el pronóstico perinatal. Materiales y métodos: Se reporta el caso de un feto de 28 semanas en el que se observó imagen ecográfica sugestiva de masa en hemitórax derecho que desplazaba corazón y pulmón; se confirmó que correspondía a un riñón intratorácico. Por laparoscopia, al recién nacido se le colocó una malla en continuidad con el diafragma dejando el riñón en el abdomen, con buena evolución. Se realizó una búsqueda bibliográfica en PubMed, Embase y Cochrane. Se buscaron cohortes, reportes y series de caso de gestaciones con diagnóstico prenatal de riñón intratorácico fetal. Se extrajo información del diseño, la población, el diagnóstico por imágenes, el tratamiento y el pronóstico. Resultados: En la búsqueda se identificaron 8 estudios que cumplieron con los criterios de inclusión y que informan en total ocho casos. El diagnóstico ecográfico mostró REI asociado a hernia diafragmática en todos los sujetos. Se utilizó también la RM fetal en cinco casos. Seis neonatos sobrevivieron sin complicaciones, en uno hubo interrupción voluntaria del embarazo, y otro presentó sepsis y dificultad respiratoria, finalmente fue dado de alta en buenas condiciones. Conclusiones: El REI es una anomalía congénita susceptible de diagnóstico prenatal. La sobrevida a la cirugía correctora en el periodo neonatal es frecuente. La literatura disponible en torno al diagnóstico prenatal de REI es escasa y se limita a reportes de casos.

Objectives: To report a case of prenatal diagnosis of ectopic intrathoracic kidney with diaphragmatic hernia managed surgically after birth, and to conduct a review of the literature on prenatal diagnosis of ectopic intrathoracic kidney and perinatal prognosis. Material and methods: We report the case of a 28-week fetus in which, on ultrasound imaging, a mass was observed displacing the heart and lung in the right hemithorax, which was was confirmed by magnetic resonance (MR) to be an ectopic intrathoracic kidney. After birth, the neonate was approached by laparoscopy to place a mesh in continuity with the diaphragm, leaving the kidney in the abdomen, with good evolution. A search was conducted in the PubMed, Embase and Cochrane databases for cohorts, case reports and case series of prenatal diagnosis of intrathoracic kidney in the fetus. Information was retrieved regarding design, population, imaging diagnosis, treatment and prognosis. Results: The search identified 8 studies that met the inclusion criteria, reporting a total of 8 cases. Ultrasound diagnosis showed ectopic intrathoracic kidney associated with diaphragmatic hernia in all the subjects. Fetal magnetic resonance imaging (MRI) was also used in 5 cases. Conclusions: Ectopic intrathoracic kidney is a congenital abnormality amenable to prenatal diagnosis. Survival after corrective surgery performed in the neonatal period is common. There is a paucity of publications, limited to case reports, regarding the prenatal diagnosis of this condition.

Obstructed hemivagina and ipsilateral renal agenesis (OHVIRA) syndrome: A case report.

INTRODUCTION: Obstructed hemivagina and ipsilateral renal agenesis (OHVIRA) is a rare urogenital malformation. The clinical symptoms of OHVIRA include uterine morphology abnormality, persistent vaginal discharge, and renal anomaly or agenesis. Delayed diagnosis can lead to complications, such as pelvic inflammatory disease, adhesion to the oviduct, and endometriosis. PRESENTATION OF CASE: We report the case of a 12-year-old girl who presented with severe dysmenorrhea and abnormal vaginal discharge. The patient was diagnosed with OHVIRA based on magnetic resonance imaging findings. The patient underwent combined transvaginal and laparoscopic surgery for drainage of hematocolpos and adhesiolysis of the pelvic cavity. The patient had an uncomplicated recovery and normal menstrual cycle after surgery. DISCUSSION: OHVIRA is a rare syndrome, of which delayed diagnosis may result in the development of endometriosis. CONCLUSION: We report that a combined laparoscopic and transvaginal approach was useful for treating OHVIRA with oviductal hematoma.

Perinatal diagnosis of congenital urogenital sinus abnormality.

Anomalies of the urogenital sinus, which is a transient feature of the early human embryological development, are rare birth defects. Urogenital sinus abnormalities commonly present as pelvic masses, hydrometrocolpos, or ambiguous genitalia and most commonly occur within the context of congenital adrenal hyperplasia. Anomalies of the urogenital sinus requires surgical repair. We experienced a case of a female newborn with congenital urogenital sinus abnormality in which the early diagnosis helped us to prevent complications by decompressing the vagina soon after birth. Antibiotic prophylaxis was sufficient to avoid infections and to decompress the genitourinary system, thus allowing a deferred elective surgery to correct the sinus.

Birth prevalence of genital anomalies among males conceived by intracytoplasmic sperm injection cycles: A cross-sectional study.

Background: Several studies have been conducted worldwide to evaluate the prevalence and relative risks of congenital anomalies associated with assisted reproductive technology cycles; however, there is limited data in Iran. Objective: To investigate male genital anomalies among live births from assisted reproductive technology. Materials and Methods: This cross-sectional study was conducted on children born after intracytoplasmic sperm injection (ICSI) at Royan Institute, Tehran, Iran from April 2013-December 2015. The prevalence of male genitalia disorders that included hypospadias, epispadias, cryptorchidism, micropenis, and vanishing testis were reported. The relationship between the cause of infertility and type of embryo transfer (fresh or frozen), gestational age at birth (term or preterm), and birth weight with these male genitalia anomalies were evaluated. Results: In total, 4409 pregnant women were followed after their ICSI cycles to evaluate genitalia anomalies in their children. Out of 5608 live births, 2614 (46.61%) newborns were male, of which 14 cases (0.54%) had genital anomalies. The prevalence of various anomalies were cryptorchidism (0.34%), hypospadias (0.038%), micropenis (0.038%), vanishing testis (0.038%), and epispadias (0.077%). No relationship was found between the cause of infertility, type of embryo transfer (fresh or frozen), gestational age at birth (term or preterm), and male genital malformation (p = 0.33, p = 0.66, and p = 0.62, respectively). Conclusion: The prevalence of each male genital anomaly after the ICSI cycle was rare and less than 0.5%; however, no significant infertility-related factor was observed with these anomalies.

Factores de riesgo asociados a defectos congénitos de genitales externos y gónadas masculinas

Introducción: Los defectos congénitos del tracto urogenital se encuentran entre las anomalías más encontradas en el feto o neonato, lo que da una idea de su extraordinaria importancia clínica, unido a las escasas investigaciones en la provincia Camagüey, sobre factores de riesgo asociados a los defectos congénitos de genitales externos y gónadas masculinas. Objetivo: Determinar los factores de riesgo asociados a defectos congénitos de genitales externos y gónadas masculinas. Métodos: Se realizó un estudio correlacional del tipo retrospectivo en el Hospital Pediátrico Eduardo Agramonte Piña en el periodo de enero de 2013 a diciembre de 2020. El universo se conformó por los 96 pacientes que fueron intervenidos quirúrgicamente por presentar defectos congénitos de los genitales externos y gónadas masculinas. Para determinar la asociación de los factores de riesgo con la aparición de defectos congénitos se empleó la prueba de independencia, en caso de p<0,05 se consideró asociación significativa. Para medir la magnitud de la asociación estadística entre las variables se utilizó el coeficiente Phi, se consideró mientras más fuerte a uno fuera su valor, más correlacionadas se encontraron las variables estudiadas. Resultados: La criptorquidia fue la forma clínica con mayor número de pacientes, seguida de la hipospadias y la hidrocele. La asociación entre los padres trabajadores agrícolas y la hipospadias y la criptorquidia con padres trabajadores industriales, resultaron significativas. El hecho que la madre fuera fumadora pasiva, constituyó una variable con asociación significativa, tanto para la aparición de hipospadias como de criptorquidia. El ser fumadora pasiva fue el factor de riesgo que tuvo mayor correlación con la aparición de los defectos congénitos. Conclusiones: Existieron factores de riesgo con asociación significativa a la aparición de defectos congénitos de genitales externos y gónadas masculinas.

Introduction: Congenital defects of the urogenital tract are among the anomalies most found in the fetus or neonate, which gives an idea of ​​their extraordinary clinical importance, together with the few investigations in the Camagüey province, on risk factors associated with congenital defects of external genitalia and male gonads. Objective: To determine the risk factors associated with congenital defects of the external genitalia and male gonads. Methods: A retrospective correlational study was carried out at the Eduardo Agramonte Piña Pediatric Hospital from January 2013 to December 2020. The universe was made up of the 96 patients who underwent surgery for presenting congenital defects of the external genitalia and male gonads. To determine the association of the risk factors with the appearance of congenital defects, the independence test was used; in case of p<0.05, a significant association was considered. To measure the magnitude of the statistical association between the variables, the Phi coefficient was used, it was considered that the stronger its value was, the more correlated the studied variables were found. Results: Cryptorchidism was the clinical form with the highest number of patients, followed by hypospadias and hydrocele. The association between farm worker parents and hypospadias and cryptorchidism with industrial worker parents was significant. The fact that the mother was a passive smoker was a variable with a significant association, both for the appearance of hypospadias and cryptorchidism. Being a passive smoker was the risk factor that had the highest correlation with the appearance of birth defects. Conclusions: There were risk factors with a significant association with the appearance of congenital defects of the external genitalia and male gonads.

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.

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.

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.

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.

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.