Esotropia, nystagmus and optic disk staphyloma in Donnai-Barrow syndrome / Esotropia, nistagmo e estafiloma de disco óptico na síndrome de Donnai-Barrow

ABSTRACT A 12-year-old boy with Donnai-Barrow syndrome diagnosed intra-uterus presented esotropia, high myopia, nystagmus, and optic disk staphyloma in an ophthalmologic examination. The patient had associated Fanconi syndrome and sensorineural hearing loss as well as facial manifestations as hypertelorism, downward slanting of palpebral fissures and low ear implantation. Magnetic resonance imaging revealed agenesis of the corpus callosum. To our knowledge, this is the first reported case associated with esotropia, nystagmus, and optic disk staphyloma.

RESUMO Paciente do sexo masculino, 12 anos, com diagnóstico intrauterino de síndrome de Donnai-Barrow, apresentava ao exame oftalmológico esotropia, alta miopia, nistagmo e estafiloma de disco óptico. Associado ao quadro, apresentava síndrome de Falconi e perda auditiva neurossensorial, além de alterações faciais, como hipertelorismo, inclinação inferior das fissuras palpebrais e implantação baixa das orelhas. Ressonância magnética revelou agenesia de corpo caloso. Ao nosso conhecimento, este é o primeiro caso relatado associando esotropia, nistagmo e estafiloma de disco óptico.

Neonato de 39 semanas de gestación con taquipnea transitoria, criptorquidia e hidrocele, con el modelo de Dorothea E. Orem / Neonate 39 weeks gestation with transient tachypnea, cryptorchidism and hidrocele, with the model of Dorothea E. Orem

Introducción: a nivel mundial la taquipnea transitoria del recién nacido se presenta entre el 0.3 y 0.5 % de todos los recién nacidos, aunque existen algunas series mexicanas que reportan hasta el 2 % de todos los recién nacidos vivos. Comprende entre el 35 y 50 % de todos los casos de dificultad respiratoria no infecciosa que ingresan a los cuneros patológicos o unidades de cuidado intensivo neonatal.1 Mientras que las tasas de criptorquidia e hidrocele son más altas en los niños nacidos por cesárea (3.3 y 4.7 %, respectivamente), en comparación con los obtenidos por vía vaginal (1.7 y 1.6 %).2 Descripción del caso: neonato de 39 semanas de gestación con taquipnea transitoria del recién nacido, criptorquidia e hidrocele atendido en el servicio de atención al recién nacido de un hospital de segundo nivel de atención. Objetivo: proporcionar cuidados especializados, utilizando el proceso de atención de enfermería basado en los conceptos teóricos del modelo de autocuidado de Dorothea E. Orem. Método: estudio de caso, dado que en este diseño se observan los fenómenos en su contexto natural, el cual se realizó en la tercera semana de mayo 2021. Consideraciones éticas: se tomaron en cuenta aspectos bioéticos para la investigación clínica basada en evidencia científica, como la ley de Helsinki y el código de Nuremberg. Resultado: se logró que el neonato y su cuidador primario alcanzaran las metas propuestas al inicio del ingreso hospitalario, mediante la continua capacitación sobre los cuidados generales del recién nacido. Conclusión: la taquipnea transitoria, criptorquidia e hidrocele son alteraciones que pueden ser detectadas al momento de la exploración al neonato.

Introduction: worldwide, transient tachypnea of the newborn occurs in 0.3 to 0.5% of all newborns, although there are some Mexican series that report up to 2% of all live newborns. It comprises 35-50% of all cases of noninfectious respiratory distress admitted to pathological nurseries or neonatal intensive care units.1 While the rates of cryptorchidism and hydrocele are higher in infants born by cesarean section (3.3% and 4.7%, respectively), compared to those obtained vaginally (1.7% and 1.6%).2 Case description: the case study was conducted on a 39-week gestational neonate with Transient Tachypnea of Newborn, Cryptorchidism and Hydrocele seen in the Newborn Care service of a second-level care hospital. Objective: to provide specialized care, using the nursing care process based on the theoretical concepts of Dorothea E. Orem's Self-Care Model. Orem. Method: is a case study, given that in this design the phenomena are observed in their natural context, which was carried out in the third week of May 2021. Ethical considerations: bioethical aspects for clinical research based on scientific evidence, such as the Helsinki law and the Nuremberg code, were taken into account. Result: the neonate and his primary caregiver were able to achieve the goals proposed at the beginning of hospital admission, through continuous training on general newborn care. Conclusion: transient tachypnea, cryptorchidism and hydrocele are alterations that can be detected at the time of examination of the newborn.

Epididymal disjunction anomalies in undescended testis - a factor associated with spermatic obstruction

ABSTRACT Background: To analyze the incidence of epididymal anomalies (EAs) associated to spermatic obstruction in patients with undescended testis (UT) according to testicular position and age. Materials and Methods: We studied 87 patients (110 testis) with cryptorchidism and analyzed the presence of EAs correlated with the testicular position, age and patency of the processus vaginalis (PV). To analyze the relations between the testis and epididymis we considered three situations: (a) Normal pattern: the epididymis was attached to the testis at the head and tail and epididymis totally attached to the testis; (b) EAs: when the epididymis was attached to the testis only at the head (Figure-1A) and (c) EAs associated to spermatic obstruction: epididymis was attached to the testis only at the tail (Figure-1B) and when there are no visible connection between testis and epididymis (Figure-1C). We used the Wilcoxon-Mann-Whitney test and the Chi-square test for contingency analysis (p <0.05). Results: The mean age of the patients was 5.18 years (SD=2.867). Of 110 testes analyzed, 14 were abdominal (12.72%); 83 inguinal (75.45%) and 13 suprascrotal (11.81%). Normal relationships between testis and epididymis were observed in 54 patients (62.1%) with no significant differences in relation to the patient's age (p=0.666). Epididymal tail disjunction was observed in 23 patients (26.44%), with no significant differences in relation to age (p=0.59). EAs associated to spermatic obstruction were observed in 16 patients (18.4%), also with no significant differences in relation to age (p=0.684). We did not observe significant correlation between the testis position and the incidence of EAs (p=0.119). We did not observe significant correlations between patency of the PV (64.7%) and incidence of EAs (p=0.742). Conclusions: Epididymal anomalies associated with spermatic obstruction are present in almost 20% of undescended testes, without significant correlation with age, testicular position and patency of the PV. This information needs to be correlated to the infertility risk of this congenital anomaly.

Testicular arteries anatomy applied to fowler-sthephens surgery in high undescended testis - a narrative review

ABSTRACT Objectives: In this review we will describe the testicular vessels anatomy and the implications of these vessels in surgical treatment of high undescended testis. Material and Methods: We performed a narrative review of the literature about the role of the testicular arteries anatomy in the treatment of high undescended testis. We also studied two human testes to illustrate the testicular vascularization. Results: Each testis is irrigated by three arteries: testicular artery (internal spermatic artery), a branch of the right aorta; deferential artery (vasal artery), a branch of the inferior vesicle artery that originates from the anterior trunk of internal iliac artery and cremasteric artery (external spermatic artery), a branch of the inferior epigastric artery. There are important communications among the three arteries with visible anastomotic channels between the testicular and deferential arteries. Conclusions: Laparoscopic transection of the testicular vessels by dividing the spermatic vessels (Fowler-Stephens surgery) is safe in patients with high abdominal testis due to the great collateral vascular supply between testicular, vasal and cremasteric arteries; also, two-stage Fowler-Stephens orchiopexy appears to carry a higher rate of success than the single stage approach.

Androgen Insensitivity Syndrome with Bilateral Cryptorchidism and Seminoma in Tibet:Report of One Case / 中国医学科学院学报

Androgen insensitivity syndrome(AIS)with bilateral testicular malignant transformation is very rare,and its diagnosis should be based on clinical manifestations,physical examination,serological findings,karyotype analysis,and pathological findings.This study reported a case of complete androgen insensitivity syndrome among Tibetan in Tibet.It took 17 years from the discovery of congenital absence of uterus to bilateral pelvic mass resection.Pathological examination confirmed that bilateral pelvic space occupying lesions were dysplastic testicular tissue with seminoma and sertoli cell adenoma-like nodules.This study summarized the clinicopathological features to deepen the understanding of the disease.

Analysis of clinical phenotype and genotype of Chinese children with disorders of sex development / 中华儿科杂志

Objective: To explore the heterogeneity and correlation of clinical phenotypes and genotypes in children with disorders of sex development (DSD). Methods: A retrospective study of 1 235 patients with clinically proposed DSD in 36 pediatric medical institutions across the country from January 2017 to May 2021. After capturing 277 DSD-related candidate genes, second-generation sequencing was performed to analyzed the heterogeneity and correlation combined with clinical phenotypes. Results: Among 1 235 children with clinically proposed DSD, 980 were males and 255 were females of social gender at the time of initial diagnosis with the age ranged from 1 day of age to 17.92 years. A total of 443 children with pathogenic variants were detected through molecular genetic studies, with a positive detection rate of 35.9%. The most common clinical phenotypes were micropenis (455 cases), hypospadias (321 cases), and cryptorchidism (172 cases) and common mutations detected were in SRD5A2 gene (80 cases), AR gene (53 cases) and CYP21A2 gene (44 cases). Among them, the SRD5A2 mutation is the most common in children with simple micropenis and simple hypospadias, while the AMH mutation is the most common in children with simple cryptorchidism. Conclusions: The SRD5A2 mutation is the most common genetic variant in Chinese children with DSD, and micropenis, cryptorchidism, and hypospadias are the most common clinical phenotypes. Molecular diagnosis can provide clues about the biological basis of DSD, and can also guide clinicians to perform specific clinical examinations. Target sequence capture probes and next-generation sequencing technology can provide effective and economical genetic diagnosis for children with DSD.

Myhre Syndrome Misdiagnosed as Marfan Syndrome: an Educational Presentation

Abstract A 32-month-old girl with patent ductus arteriosus, false tendon of left ventricle, mild pulmonary hypertension, and chronic cardiac insufficiency (cardiac function level I-II) was misdiagnosed with Marfan Syndrome and there was no improvement in her physical growth after operation for this disease. The preterm baby was finally diagnosed with Myhre Syndrome by clinical phenotypes and mutation of SMAD4 gene.

The role of intra-abdominal pressure in human testicular migration

ABSTRACT Objectives: This review aims to study the role of the abdominal wall in testicular migration process during the human fetal period. Materials and Methods: We performed a descriptive review of the literature about the role of the abdominal wall in testicular migration during the human fetal period. Results: The rise in intra-abdominal pressure is a supporting factor for testicular migration. This process has two phases: the abdominal and the inguinal-scrotal stages. The passage of the testis through the inguinal canal occurs very quickly between 21 and 25 WPC. Bilateral cryptorchidism in Prune Belly syndrome is explained by the impaired contraction of the muscles of the abdominal wall; mechanical obstruction due to bladder distention and structural alteration of the inguinal canal, which hampers the passage of the testis during the inguinoscrotal stage of testicular migration. Abdominal wall defects as gastroschisis and omphaloceles are associated with undescended testes in around 30 to 40% of the cases. Conclusions: Abdominal pressure wound is an auxiliary force in testicular migration. Patients with abdominal wall defects are associated with undescendend testis in more than 30% of the cases probably due to mechanical factors; the Prune Belly Syndrome has anatomical changes in the anterior abdominal wall that hinder the increase of intra-abdominal pressure which could be the cause of cryptorchidism in this syndrome.

Devenir des pathologies du canal péritonéo-vaginal et de la migration testiculaire chez l'enfant: prise en charge au centre hospitalier de Louga, Sénégal / Outcome of processus vaginalis and testicular migration related pathologies in children treated at Louga Hospital, Senegal

Contexte et objectifs. Le devenir des pathologies du canal péritonéo-vaginal (CPV) et de la migration testiculaire chez l'enfant est peu connu. L'objectif de ce travail était de décrire les aspects cliniques et le devenir de ces pathologies. Méthodes. Etude documentaire descriptive portant sur les hernies, hydrocèles, cryptorchidies et torsions du cordon spermatique opérées chez le garçon âgé de 0 à 16 ans, au Centre hospitalier de Louga, Sénégal, de janvier 2018 à décembre 2019. Résultats. 184 dossiers des patients ont été colligés, soit 32,5 % de patients opérés au cours de la période. Leur âge moyen était de 5,4 ± 4,3 ans. Ces pathologies englobaient : hernies inguinales (n=37 dont 3 étranglements), hydrocèles (n=113), cryptorchidies (n=27), testicules oscillants (n=2) et torsions du cordon spermatique (n=5). L'abord a été inguinal dans 96,1 %. Le traitement a consisté en : ligature du CPV, abaissement testiculaire, orchidopexie, orchidectomie. Aucune récidive, atrophie ou fonte testiculaire n'a été observée en trois mois de suivi. Conclusion. La prise en charge en urgence ou non des pathologies du CPV et de la migration testiculaire chez l'enfant est fréquente dans notre pratique, sans complication à courte terme. Le défi réside dans le suivi à long terme en raison des complications tardives

Context and objectives. Little is known about the outcome of patent processus vaginalis and testicular migration pathologies in children. The objectives of this study were to analyze clinical and therapeutic features of these pathologies. Methods. This was a descriptive retrospective study involving boys aged 0 to 16 years, operated for inguinal hernias, hydroceles, cryptorchidisms and testicular torsions, at the Louga Regional Hospital Center, Senegal, from January 2018 to December 2019. Results. 184 patients were recorded, which represented 32.5 % of all patients operated in the same period. Their average age was 5.4 ± 4.3 years. The managed pathologies were: inguinal hernias (n= 37 including 3 incarcerated hernias), hydroceles (n= 113), cryptorchidisms (n= 27), retractile testicles (n=2) and testicular torsions (n= 5). Inguinal approach was performed in 96,1 % of cases. Surgical managements were: ligature of the patent processus vaginalis, relocating the testicle within the scrotum, orchidopexy and orchidectomy. No recurrence, no purulent testicular discharge or testicular atrophy was encountered. Conclusion. Processus vaginalis and testicular migration pathologies are common in our practice. At 3 months of surgical operation, no complication was observed. However, the challenge is long-term follow-up due to late complications

Cryptorchidism is a useful clue for Idiopathic Hypogonadotropic Hypogonadism in Pituitary Stalk Thickening / Journal of the ASEAN Federation of Endocrine Societies

@#Pituitary stalk lesions can represent a wide range of pathologies. The exact cause is often unknown due to hesitancy to proceed with biopsy. We present a 16-year-old adolescent who presented with delayed puberty, short stature and bilateral cryptorchidism. He was found to have a thickened pituitary stalk of uncertain etiology with partial hypopituitarism (gonadotrophin and growth hormone deficiency) on further assessment. The presence of bilateral cryptorchidism and micropenis represents lack of “mini puberty,” a phenomenon of activation of the hypothalamic-pituitary-gonadal (HPG) axis in-utero or within the first few months of life.1 These key clinical features have been useful to establish an early temporal relationship and suggest a congenital origin of disease. This enabled a more conservative approach of surveillance to be employed as opposed to invasive pathological examination with pituitary stalk biopsy.

Microlitiasis testicular como factor de riesgo de Cáncer testicular - Estudio de casos y controles / Testicular Microlithiasis: A Risk Factor for Testicular Cancer ­ A Case Control Study

Introducción Con una prevalencia entre el 1,5% y el 5,6%, la microlitiasis testicular es un hallazgo incidental. Aunque se ha propuesto una posible asociación entre la microlitiasis testicular y el cáncer testicular dicha relación no ha sido comprobada. Objetivos Establecer la relación entre microlitiasis testicular y cáncer testicular. Métodos Se realizó un estudio de casos y controles con la base de datos de un hospital de la ciudad de Bogotá de pacientes atendidos entre 2007 y 2017. Tanto casos como controles debían tener entre 5 y 35 años de edad, sin otros antecedentes que aumentaran el riesgo de cáncer testicular (criptorquidia, antecedente de cáncer testicular contralateral). Los casos debían tener reporte ecográfico y patológico del cáncer testicular así como una historia clínica completa de valoración por Urología. Los controles fueron pacientes que consultaron por otros cuadros de molestia testicular a quienes se les descartó ecográficamente la presencia de cáncer. Resultados Se identificaron 24 casos y 96 controles. Al momento de calcular los riesgos relativos indirectos, se obtuvieron un OR crudo de 7,86 (95% CI 2,3 - 26,86) y un OR ajustado por tabaquismo de 10,66 (95% IC 3,29 - 34,55). Al ajustar por edad, historia de cáncer familiar y antecedente de varicocele, no se encontraron diferencias. Conclusión Existe una aparente asociación entre microlitiasis testicular y cáncer testicular. A pesar de eso, estudios con tamaños de muestra más grande serían beneficiosos. Así mismo, al no poder determinar la existencia de una asociación temporal que permita hablar de causalidad entre las dos condiciones, esos resultados deben tomarse con cautela.

Introduction Testicular microliathiasis is an incidental finding with a prevalence that varies between 1,5% and 5,6%. Although a possible association between testicular microlithiasis and testicular cancer has been proposed, this relationship has not been proven. Objective To establish the association between testicular microlithiasis and testis cancer. Methods A case-control study was conducted with the database of a hospital in the city of Bogotà, Colombia, of patients treated between 2007 and 2017. Both cases and controls should be between 5 and 35 years of age, with no other history that would increase the risk of testicular cancer (cryptorchidism, antecedent of contralateral testicular cancer). The cases had to have an ecographic and pathological report of testicular cancer as well as a complete clinical history of assessment by Urology. Likewise, the control group were patients who attended during the same period, with other testicular problems, such as: hydrocele, varicocele or inguinal hernia and with ultrasound findings that ruled out testicular cancer. Results We identified 24 cases and 96 controls. We found a crude OR of 7.86 (95% CI 2.3­26.86) and an OR adjusted for smoking of 10.66 (95% CI 3.29­34, 55). When adjusting for age, family cancer history and varicocele history, no differences were found. Conclusion There is an apparent association between testicular microlithiasis and testicular cancer. Despite this, studies with larger sample sizes would be beneficial. Likewise, since it cannot determine the existence of a temporary association that allows to speak of causality between the two conditions, these results must be taken with caution.

Novel homozygous mutation in a colombian patient with persistent müllerian duct syndrome: expanded phenotype

ABSTRACT The anti-Müllerian hormone triggers the regression of uterus and fallopian tubes in male embryos; if there are problems in the synthesis or action of this protein, Müllerian structures persist in an otherwise phenotypic male. The most frequent clinical presentation of Persistent Mullerian Duct syndrome is cryptorchidism and inguinal hernia. The few cases reported in adults are incidental findings or inguinal hernias. However, we present an adult male with history of bilateral cryptorchidism with unsuccessful orchidopexy, who presents with a large abdominal mass with the finding of a seminomatous tumor and persistence of Müllerian structures, in whom the variant c.916delC (p.Leu306Cysfs*29) in the AMHR2 gene not previously reported was documented.

Concurrent SHORT syndrome and 3q duplication syndrome

SHORT syndrome is an extremely rare congenital condition due to a chromosomal mutation of the PIK3R1 gene found at 5q13.1. SHORT is a mnemonic representing six manifestations of the syndrome: (S) short stature, (H) hyperextensibility of joints and/or inguinal hernia, (O) ocular depression, (R) Rieger anomaly, and (T) teething delay. Other key aspects of this syndrome not found in the mnemonic include lipodystrophy, triangular face with dimpled chin (progeroid facies, commonly referred to as facial gestalt), hearing loss, vision loss, insulin resistance, and intrauterine growth restriction (IUGR). 3q duplication syndrome is rare syndrome that occurs due to a gain of function mutation found at 3q25.31-33 that presents with a wide array of manifestations including internal organ defects, genitourinary malformations, hand and foot deformities, and mental disability. We present a case of a 2 year and 3 month old male with SHORT syndrome and concurrent 3q duplication syndrome. The patient presented at birth with many of the common manifestations of SHORT syndrome such as bossing of frontal bone of skull, triangular shaped face, lipodystrophy, micrognathia, sunken eyes, and thin, wrinkled skin (progeroid appearance). Additionally, he presented with findings associated with 3q duplication syndrome such as cleft palate and cryptorchidism. Although there is no specific treatment for these conditions, pediatricians should focus on referring patients to various specialists in order to treat each individual manifestation.

Afectación de la función testicular en niños con criptorquidia / Testicular dysfuntion in boys with cryptorchidism

Introducción: La capacidad funcional del testículo en los niños con criptorquidia ha recibido poca atención. La hormona anti-mülleriana (AMH), producida por la célula de Sertoli, es el marcador ideal para evaluar la función testicular durante la infancia. Objetivo: Caracterizar la función testicular en niños prepuberales antes de la orquidopexia. Investigar la asociación entre función testicular y las características de la criptorquidia. Pacientes y métodos: Estudio de corte transversal y analítico, retrospectivo. Medida de resultado principal: concentración de AMH. Medidas de resultados secundarias: concentraciones de gonadotrofinas y testosterona. Para comparación, se utilizaron los niveles hormonales de 179 niños normales. Resultados: Se seleccionaron 186 pacientes con criptorquidia bilateral y 124 con criptorquidia unilateral. La mediana de SDS de AMH fue menor a 0 en ambos grupos. La concentración sérica de AMH fue más baja en pacientes con criptorquidia bilateral que en niños controles y en niños con criptorquidia unilateral. La testosterona estuvo disminuida en niños menores de 6 meses. Las gonadotrofinas estuvieron aumentadas en un bajo porcentaje de los casos. Conclusión: Los niños prepuberales con criptorquidia, especialmente aquellos con criptorquidia bilateral, tienen menor producción de AMH y una considerable prevalencia de disfunción testicular

Introduction: Little information is available on testicular function in boys with cryptorchidism. Anti-müllerian hormone (AMH) is a good marker of testicular functionin childhood. Objective: the aim of this study was to assess testicular function in boys with cryptorchidism before orchiopexy, and to look for an association between testicular function and features of cryptorchidism. Patients and methods: We performed a cross-sectional, retrospective study. Main outcome measure was serum AMH concentration, and secondary variables were gonadotropin and testosterone concentrations. For comparison, levels in 179 normal boys were compared. Results: 186 boys with bilateral cryptorchidism and 124 with unilateral cryptorchidism were included. Mean SDS AMH was below 0 in both groups. Mean serum AMH was lower in boys with bilateral cryptorchidism, as compared to unilateral cryptorchidism and controls between 6 months and 8.9 years of age. Testosterone was lower than normal in boys < 6 months of age. Gonadotropins were rarely affected. Conclusions: Prepubertal boys with cryptorchidism, especially those with bilateral forms, have a lower AMH production, reflecting testicular dysfunction

Orquidopexia tardía en niños con criptorquidia y aumento del riesgo de cáncer testicular / Late orchiopexy in boys with cryptorchidism and increased risk of testicular cancer

La criptorquidia se define como la falta de descenso a la porción inferior del escroto de uno o ambos testículos. Constituye el trastorno endocrinológico más frecuente en el varón y puede formar parte de enfermedades sindrómicas diversas o presentarse de manera aislada. La criptorquidia es un reconocido factor de riesgo asociado a infertilidad y cáncer testicular en la adultez. Sin embargo, no hay consenso sobre el momento óptimo para efectuar la orquidopexia y así disminuir el riesgo de cáncer testicular. Realizamos una revisión sistemática de la literatura en las bases norteamericana Medline y latinoamericana Lilacs con el objetivo de analizar la evidencia existente sobre el riesgo de desarrollar cáncer testicular asociado a una orquidopexia tardía en pacientes con antecedente de criptorquidia. Para llevar a cabo la búsqueda utilizamos las siguientes palabras claves: "Cryptorchidism", "Testicular neoplasm" y "Orchidopexy". Luego de filtrar y analizar los trabajos hallados, cuatro cumplieron con todos los criterios de la búsqueda. Esta revisión sistemática nos permite concluir que los pacientes con antecedente de criptorquidia presentan un riesgo incrementado de cáncer testicular y que dicho riesgo se incrementa a medida que la corrección de la criptorquidia se posterga, aunque se realice antes del inicio puberal

Cryptorchidism is defined as the lack of testicular descent to the lower part of the scrotum and can involve one or both testicles. It represents the most frequent endocrine disease in male children and it can occur as an isolated disorder or as a syndromic disease feature. Cryptorchidism is a highly recognized risk factor for infertility and testicular cancer in adulthood. Nevertheless, there is no consensus about the ideal time for orchidopexy aimed to decrease testicular cancer risk. We developed a systematic review of the literature through two databases: the North American Medline and the Latin American Lilacs to analyse the available evidence up to now about testicular cancer risk linked to delayed orchidopexy in patients with cryptorchidism. We used "Cryptorchidism", "Testicular neoplasm" and "Orchidopexy" as key words to conduct our search. We then filtered and evaluated the articles matching our search and four of them fulfilled the search criteria. This systematic review allows us to conclude that there is an increased risk for testicular cancer in patients with cryptorchidism and that risk is higher when treatment is delayed despite being accomplished before puberty

Síndrome de persistencia de los conductos mullerianos: una rara entidad que debe ser conocida / Persistent Müllerian Duct Symdrome: a rare anomaly that must be known

Introducción: El síndrome de persistencia de los conductos müllerianos es un raro trastorno de la diferenciación sexual con menos de 300 casos publicados, que se caracteriza por la presencia en la persona afectada de ambos sistemas reproductores masculino y femenino. Un varón con cariotipo XY fenotípicamente masculino en quien el conducto de Müller (útero, trompas, 2/3 superior de la vagi-na) no sufrió regresión. Caso clínico: Masculino de 14 meses de edad ingresado en el Hospital de Especialidades del Seguro Social para laparoscopía diagnostica por criptorquidia bilateral con testículos no palpables y pene normal. En la laparoscopía se identiicó trompas, útero y 2/3 superior de la vagina. Además, se tomó biopsia de ambas gónadas que conirmó presencia de tejido testicular normal para la edad. Con estos datos se programa para orquidopexia bilateral más histerectomía, colpectomía y salpingectomía bilateral. Es controlado en consulta externa de endocrinología y cirugía con evolución normal. Conclusiones: El síndrome de persistencia de los conductos mül-lerianos es muy raro debe sospecharse en masculinos con criptorquidia bilateral con testículos no palpables y pene normal. El abordaje inicial debe ser laparoscopía diagnóstica con toma de biopsia de ambas gónadas y luego en la segunda intervención ya con el reporte de patología proceder a la orquidopexia bilateral más la remoción de los elementos del conducto de Müller...(AU)

Is Preoperative Ultrasonography Necessary in Pediatric Inguinal Hernia?

PURPOSE: Preoperative ultrasonography (USG) in pediatric inguinal hernia has controversy. In this study, we analyzed the cases of pediatric inguinal hernia with/without preoperative USG and discussed whether USG is necessary. METHODS: We reviewed medical records of 1,441 patients who underwent inguinal hernia repair in Seoul National University Children's Hospital between January 2011 and August 2016 retrospectively. RESULTS: Male were 69.3% and age at operation was 37.8±36.5 months old. There were 150 patients (10.4%) performed USG preoperatively. The department ordered to perform USG included department of surgery (n=71), emergency medicine (n=42), pediatrics (n=26), urology (n=10) and outside hospital (n=1). The reasons of performing USG included evaluation for hernia laterality (n=82), incarceration (n=28), testis (n=15), request of parents (n=14), scrotal mass (n=6) and incidentally found during evaluation for another disease (n=5). Excepting 5 cases of incidental finding, of 145 cases with USG, 12 (8.3%) cases changed the surgical plan; change to bilateral repair from unilateral repair (n=5), emergency operation due to incarceration (n=4) which include 1 salpingo-oophorectomy, 1 open abdomen surgery and 2 hernia repair after reduction of ovary, change to co-operation of orchiopexy (n=2) and change to laparoscopic surgery from open surgery due to herniation of both ovaries into one inguinal canal (n=1). In group without USG (n=1,291), 5 patients (0.4%) had unexpected problems during operation; 2 co-operation of orchiopexy because of transverse testicular ectopia (n=1) and right undescended testis (n=1), 2 hypertrophy of major labia and 1 retroperitoneal lymphangioma at inguinal area misdiagnosed as inguinal hernia. CONCLUSION: It was difficult to interpret the meaning of preoperative USG because not all patients had performed it. In this study, 10.4% of patients performed USG and 8.3% of them changed surgical plan. About 0.4% of patients without preoperative USG would have benefited from it for surgery if they had performed it. Since the percentage is too low, it is unreasonable to conclude that USG has diagnostic utility in inguinal hernia in this study.