Evaluation of the level of information of pediatricians about the diagnosis and management of cryptorchidism.

OBJECTIVE: Evaluate the level of information of pediatricians about the diagnosis and management of cryptorchidism. METHOD: A cross-sectional observational study was conducted using a form via the "Google Forms" platform. The study population included pediatricians and pediatric residents associated with the Brazilian Society of Pediatrics. Seven hundred twenty-eight responses were recorded and analyzed using IBM SPSS v21. RESULTS: 728 valid responses were obtained. Of these answers, only 20.5 % answered that the physical examination was sufficient for the diagnosis, and 79.4 % responded that they requested ultrasound as the best test to aid in diagnosing cryptorchidism. When questioned about the ideal age for referring a patient with cryptorchidism, the survey recorded 56.3 % of the responses defending the correct age as six months old, 30.2 % shortly after birth, and 13.2 % at two years old. Other topics were addressed in the form, such as the frequency of evaluation of testicular position and investigation for DDS, among others. Still, the answers to these questions were compatible with current manuals and guidelines on cryptorchidism. CONCLUSION: It is evident that the understanding of the professionals consulted about the diagnosis and management of cryptorchidism needs to be updated with the current practices adopted and that pediatricians, in general, must maintain periodic programs on this subject. Therefore, this topic should be part of a continuing education program with pediatric surgery.

Role of Gubernaculum testis inervation during the process of testicular migration in human fetuses.

PURPOSE: The gubernaculum seems to be the most important anatomical structure in the testicular migration process. The objective of this paper is to review current literature regarding the role of gubernaculum testis nerves in testicular migration. We conducted a comprehensive literature review about the gubernaculum testis innervation. A PubMed database search was performed in April 2024, focusing on gubernaculum testis and cryptorchidism and genitofemoral nerve (GFN) and calcitonin gene-related peptide (CGRP) gene. The gubernaculum has its own nerve supply, the GFN, descending on the anteromedial surface of the psoas muscle from L1-L2 segments. The second phase of testicular descent is regulated by androgens and CGRP, released from the sensory nucleus of the GFN. The GFN doesn't directly play a role in testicular migration but there is a theory that shows a regulatory function of this nerve in hormonal action during this process. The gubernaculum testis has important structural alterations during the testicular migration and the genitofemoral nerve and CGRP gene are of great importance in this process. The genitofemoral nerve provides motor innervation to the cremaster muscle and gubernaculum, which helps regulate the position of the testes within the scrotum.

Bilateral testicular myxosarcoma in a cryptorchid dog.

Myxosarcoma is a rare malignant mesenchymal neoplasm of soft tissues originating from fibroblasts. This report describes a case of bilateral myxosarcoma in a three-year-old cryptorchid dog. The animal was referred to the veterinary clinic because of the absence of testicles in the scrotum. Ultrasonography revealed two masses in the abdominal cavity with testicular echotexture. Exploratory laparotomy revealed the presence of cryptorchid testicles, and orchiectomy was recommended to treat the animal. Testicles were gray and reddish in color and enlarged with firm consistency. For histopathological analysis, testis fragments were fixed in 10% formalin and stained with hematoxylin and eosin and Alcian blue. Immunohistochemistry was performed using the following primary antibodies:1A4, HHF35, desmin, glial fibrillary acidic protein, CD31, S-100, vimentin, and Ki-67. Histopathological evaluation revealed the proliferation of fusiform and round cells associated with extensive areas of myxoid matrix. Neoplasms featured multinucleated giant cells, pleomorphism, karyomegaly, nuclear hyperchromasia, anisokaryosis, mitoses, and necrosis, with coarse chromatin and prominent nucleoli. Immunohistochemical analysis of vimentin- and the Alcian blue-positive cells confirmed the diagnosis of myxosarcoma. A high mitotic count and Ki-67 proliferative index suggests this myxosarcoma had a high degree of malignancy. To the best of our knowledge, this is the first case report of bilateral testicular myxosarcoma in a cryptorchid animal.

Downregulation of Serotonergic System Components in an Experimentally Induced Cryptorchidism in Rabbits.

Cryptorchidism (CO) or undescended testes is defined as the failure of one or both testes to be positioned inside the scrotum. Typically, cryptorchidism is detected at birth or shortly thereafter, and in humans, it is considered to be part of the testicular dysgenesis syndrome (TDS), a complex pathology regarding the male reproductive system that apparently involves the interaction of both genetic and environmental harmful factors, mainly during embryonic development. Serotonin (5-HT) is an ancient molecule that participates in a broad range of body functions, and in recent years, its importance in reproduction has started to be elucidated. In male pathologies such as infertility, varicocele, erectile dysfunction, and primary carcinoid tumors, an increase in 5-HT concentration or its metabolites in the blood, semen, and urine has been directly related; nevertheless, the role of 5-HT in CO remains unknown. In the present work, our goal was to answer two important questions: (1) whether some serotonergic system components are present in adult male Oryctolagus cuniculus (chinchilla rabbit) and (2) if there are changes in their expression in an experimental model of CO. Using histological, molecular, and biochemical approaches, we found the presence of some serotonergic system components in the adult chinchilla rabbit, and we demonstrated that its expression is downregulated after CO was pharmacologically induced. Although we did not test the role of 5-HT in the etiology of CO, our results suggest that this indoleamine could be important for the regulation of steroidogenesis and spermatogenesis processes in the chinchilla rabbit during adulthood. Finally, in parallel experimental series, we found downregulation of kynurenine concentration in COI rabbits when compared to control ones, suggesting that CO could be affecting the kynurenine pathway and probably testicular immune privilege which in turn could lead to infertility/sterility conditions in this disorder.

Anti-Müllerian hormone, testicular descent and cryptorchidism.

Anti-Müllerian hormone (AMH) is a Sertoli cell-secreted glycoprotein involved in male fetal sex differentiation: it provokes the regression of Müllerian ducts, which otherwise give rise to the Fallopian tubes, the uterus and the upper part of the vagina. In the first trimester of fetal life, AMH is expressed independently of gonadotropins, whereas from the second trimester onwards AMH testicular production is stimulated by FSH and oestrogens; at puberty, AMH expression is inhibited by androgens. AMH has also been suggested to participate in testicular descent during fetal life, but its role remains unclear. Serum AMH is a well-recognized biomarker of testicular function from birth to the first stages of puberty. Especially in boys with nonpalpable gonads, serum AMH is the most useful marker of the existence of testicular tissue. In boys with cryptorchidism, serum AMH levels reflect the mass of functional Sertoli cells: they are lower in patients with bilateral than in those with unilateral cryptorchidism. Interestingly, serum AMH increases after testis relocation to the scrotum, suggesting that the ectopic position result in testicular dysfunction, which may be at least partially reversible. In boys with cryptorchidism associated with micropenis, low AMH and FSH are indicative of central hypogonadism, and serum AMH is a good marker of effective FSH treatment. In patients with cryptorchidism in the context of disorders of sex development, low serum AMH is suggestive of gonadal dysgenesis, whereas normal or high AMH is found in patients with isolated androgen synthesis defects or with androgen insensitivity. In syndromic disorders, assessment of serum AMH has shown that Sertoli cell function is preserved in boys with Klinefelter syndrome until mid-puberty, while it is affected in patients with Noonan, Prader-Willi or Down syndromes.

Advocating hormonal treatment to prevent adult in-fertility in patients diagnosed with congenital un-descended testes.

In 2007 the Nordic group came to the following unanimous conclusions: In general, hormonal treatment is not recommended, considering the poor immediate results and the possible long-term adverse effects on spermatogenesis. Thus, surgery is to be preferred. However, defective mini puberty inducing insufficient gonadotropin secretion is one of the most common causes of nonobstructive azoospermia in men suffering from congenital isolated unilateral or bilateral cryptorchidism. The extent of alteration in the unilateral undescended testis correlate with the contralateral descended testis, indicating that unilateral cryptorchidism is a bilateral disease. Idiopathic central hypogonadism explains the phenomenon of defective mini puberty in otherwise healthy cryptorchid boys. We therefore recommend hormonal treatment for cryptorchid boys with defective mini puberty. Gonadotropin releasing hormone agonist (GnRHa) treatment following surgery to correct cryptorchidism restores mini puberty via endocrinological and transcriptional effects and prevents adult infertility in most cases. Several genes are important for central hypogonadotropic hypogonadism in mammals, including many that are transcribed in both the brain and testis. At the molecular level, there is no convincing evidence that heat shock is responsible for the observed pathological testicular changes. Thus, impaired transformation of gonocytes is not the result of temperature stress but rather a hormonal imbalance. Cryptorchidism should therefore be considered a serious andrological problem that cannot be successfully treated by early orchidopexy alone.

CAG and GGN repeat polymorphisms in the androgen receptor gene of a Chilean pediatric cohort with idiopathic inguinal cryptorchidism.

BACKGROUND: Cryptorchidism is one of the most common congenital disorders in boys and it is associated with a higher risk of sub-fertility and testicular cancer. Testicular descent occurs during embryo-fetal development in two phases, transabdominal and inguino-scrotal. In the latter process, androgens play a leading role. The androgen receptor has in its N-terminal domain, two aminoacidic repeats encoded by polymorphic nucleotide repetitions: (CAG)nCAA and GGN. The number of repetitions of these trinucleotides has been associated with different transactivation capacities and sensitivities of the androgen receptor response. OBJECTIVE: To determine whether pediatric Chilean individuals with idiopathic inguinal cryptorchidism have a different number of CAG and/or GGN repeats polymorphisms compared with controls. MATERIALS AND METHODS: A total of 109 cases with idiopathic inguinal cryptorchidism (26 bilateral and 83 unilateral) were studied by polymerase chain reaction amplification from DNA extracted from peripheral blood, followed by fragment size analysis by capillary electrophoresis, which were compared with 140 controls. RESULTS: The CAG26 repeats allele was increased in the total cases (8.3% vs. 1.4%; p = 0.012; odds ratio = 6.21, 95% confidence interval 1.31-29.4), and in bilateral cases compared to controls (11.5% vs. 1.4%; p = 0.028; odds ratio = 9 CI 95% 1.43-56.8). Similarly, CAG > 22 alleles were increased in the total cases (62.4% vs. 49.3%, p = 0.041), and more significantly in bilateral cases (73.1% vs. 49.3%; p = 0.032; odds ratio = 2.79, 95% confidence interval 1.1-7.1). In addition, CAG < 18 alleles were not observed among cases, but were present in 5.7% of controls (p = 0.01). Regarding the GGN repeats, no differences were observed between cases and controls either when analyzing separately unilateral and bilateral cryptorchidism. The joint analysis of the distribution of CAG and GGN alleles showed that the CAG26 allele was present with GGN23, hence the combination CAG26/GGN23 alleles was equally increased in bilateral cases compared with controls (11.5% vs. 1.4%). In contrast, CAG < 18 was preferably observed in the combination CAG < 18/GGN≠23 and was absent in the total cases (4.3% vs. 0%; p = 0.037). DISCUSSION: These results suggest that greater lengths of CAG alleles may contribute to a diminished androgen receptor function. The CAG26 allele alone or in combination with GGN23 was associated with a higher risk of bilateral cryptorchidism. On the other hand, CAG < 18 and the CAG < 18/GGN≠23 allele combination may reduce the probability of cryptorchidism.

Abdominal testicular vessel distribution in human fetuses - basis for fowler-Stephens surgery.

PURPOSE: To analyze the histology and distribution of abdominal testicular vessels in human fetuses Patients and Methods: We studied 19 fetuses (34 testes) ranging in age from 12 to 19 weeks post-conception. The fetuses were evaluated regarding crown-rump length (CRL), total length (TL) and body weight immediately before dissection. Each testis was dissected and embedded in paraffin, from which 5 µm thick sections were obtained and stained with Masson's trichrome and Anti-CD31 antibody to quantify the vessels. The stereological analysis was carried out with the Image Pro and Image J programs, using a grid to determine volumetric densities (Vv). Means were statistically compared using the unpaired T-test (p<0.05). RESULTS: The fetuses presented mean weight of 222.5g, mean CRL of 15.3 cm and mean TL of 23.2 cm. All testes were in the abdominal position. The mean percentage of vessels (Vv) in the upper portion of the testis was 7.6% (4.6 to 15%) and in the lower portion the mean was 5.11% (2.3 to 9.8%), with a significant difference (p=0.0001). In the analysis between the upper portion of the right and left testes (p=0.99) and in the analysis of the lower portion of the right and left testes (p=0.83), we did not observe significant differences. CONCLUSION: The upper portion of the abdominal testis in human fetuses had a higher concentration of vessels than the lower portion. These results suggest that manipulation of the lower end of the testis during Fowler-Stephens surgery should be avoided in order to preserve the collateral circulation.

Whole-Exome Sequencing Indicated New Candidate Genes Associated with Unilateral Cryptorchidism in Pigs.

INTRODUCTION: Cryptorchidism is a hereditary anomaly characterized by the incomplete descent of one or both testicles to the scrotum. One of the challenges of this anomaly is that the retained testicle maintains its endocrine function. As a consequence, cryptorchid animals produce hormone-tainted meat in comparison to castrated animals and are likely to be more aggressive. Cryptorchidism can lead to reduced animal welfare outcomes and cause economic losses. Identifying genetic markers for cryptorchidism is an essential step toward mitigating these negative outcomes and may facilitate genome manipulation to reduce the occurrence of cryptorchidism. Attempts to identify such markers have used genome-wide association studies. Using whole-exome sequencing, we aimed to identify single nucleotide polymorphisms (SNPs) in the coding regions of cryptorchid pigs and to characterize functional pathways concerning these SNPs. METHODS: DNA was extracted and sequenced from 5 healthy and 5 cryptorchid animals from the Landrace breed, using the Illumina HiSeq 2500 platform. Data were pre-processed using the SeqyClean tool and further mapped against the swine reference genome (Sus scrofa 11.1) using BWA software. GATK was used to identify polymorphisms (SNPs and InDels), which were annotated using the VEP tool. Network prediction and gene ontology enrichment analysis were conducted using the Cytoscape platform, and STRING software was used for visualization. RESULTS: A total of 63 SNPs were identified across the genes PIGB, CCPG1, COMMD9, LDLRAD3, TRIM44, MYLPF, SEPTIN, ZNF48, TIA1, FAIM2, KRT18, FBP1, FBP2, CTSL, DAPK1, DHX8, GPR179, DEPDC1B, ENSSSCG00000049573, ENSSSCG00000016384, ENSSSCG00000022657, ENSSSCG00000038825, and ENSSSCG00000001229. Using pathway enrichment analyses and network prospection, we have identified the following significant adjusted p value threshold of 0.001 involved with the biological function pathways of estrogen signaling, cytoskeleton organization, and the pentose phosphate pathway. CONCLUSION: Our data suggest the involvement of new SNPs and genes in developing cryptorchidism in pigs. However, further studies are needed to validate our results in a larger cohort population. Variations in the GPR179 gene, with implications at the protein level, may be associated with the appearance of this anomaly in the swine. Finally, we are showing that the estrogen signaling pathway may be involved in the pathophysiological mechanisms of this congenital anomaly as previously reported in GWAS.

Intra-abdominal torsion of a non-neoplastic cryptorchid testis in an adult dog / Torção intra-abdominal de testículo criptorquideo sem neoplasia em cão adulto

Intra-abdominal or intrascrotal testicular torsion in dogs occurs due to spermatic cord rotation. Dogs with testicular torsion commonly present severe pain and require surgical intervention. Torsion of intra-abdominal retained testicles in cryptorchid adult dogs is often associated with the presence of testicular neoplasia. Herein, we reported the case of a 5-year-old male poodle with uncommon intra-abdominal testicular torsion (ITT) of a non-neoplastic testicle. The dog was referred to the veterinary hospital with acute abdominal pain in the hypogastric region. An intra-abdominal gonad and alterations compatible with testicular torsion were visualized during ultrasound examination. Orchiectomy and histopathological analysis of the testes confirmed the diagnosis of ITT in the absence of neoplasia. The patient recovered uneventfully from the situation. This report showed that ITT can occur in adult dogs in the absence of testicular neoplasia and reinforce the message that it should be included as a differential diagnosis in cases of acute abdominal pain in cryptorchid dogs. Furthermore, the ultrasound examination in this case of pain in the hypogastric region was decisive for the diagnosis of ITT.

A torção testicular intra-abdominal ou intra-escrotal em cães ocorre devido à rotação do cordão espermático. Os cães com torção testicular apresentam comumente dor intensa e necessitam de intervenção cirúrgica. Em cães adultos, a torção de testículos retidos no abdômen está geralmente associada à presença de neoplasia testicular. Este relato descreve um caso incomum de cão macho, de cinco anos de idade, da raça Poodle, encaminhado ao Hospital Veterinário com dor abdominal aguda na região hipogástrica. Durante o exame ecográfico, foi possível evidenciar um testículo e alterações compatíveis com torção testicular. A orquiectomia intra-abdominal e posterior análise histopatológica confirmaram a ITT sem neoplasia associada. O paciente apresentou evolução clínica satisfatória. Este relato mostra que a ITT na ausência de neoplasia pode ocorrer em cães adultos, reforçando a mensagem de que deve ser considerada como um diferencial diagnóstico em casos de dor abdominal aguda. Além disso, o exame ultrassonográfico realizado neste caso de dor na região hipogástrica foi decisivo para o diagnóstico de ITT.

Anestesia para orquiectomia em equino criptorquídico: relato de caso / Anesthesia for orchiectomy in a cryptorchid horse: case report

O criptorquidismo é uma das afecções testiculares mais comuns nos equídeos, caracterizada pela não descida de um ou dos dois testículos para a bolsa escrotal. O tratamento para esta afecção se resume em orquiectomia bilateral, necessitando de um procedimento anestésico. No presente trabalho, para a escolha do protocolo anestésico, foi levado em consideração o tempo cirúrgico, o procedimento cirúrgico, o decúbito e a espécie do animal. Com a evolução da anestesiologia veterinária, novas técnicas têm sido utilizadas, como o uso da anestesia parcialmente intravenosa (Piva) para buscar maior estabilidade hemodinâmica, melhores planos anestésicos, estabilidade transanestésica, analgesia e recuperação mais rápida.(AU)

Cryptorchidism is one of the most common testicular disorders in horses, characterized by the failure of one or both testicles to descend into the scrotum. The treatment for this affection is bilateral orchiectomy, requiring an anesthetic procedure. In the present study, for the choice of the anesthetic protocol the surgical time, the surgical procedure, the decubitus and the species of the animal were taken into consideration. With the evolution of veterinary anesthesiology, new techniques have been used, such as the use of partial intravenous anesthesia (Piva) to seek greater hemodynamic stability, better anesthetic plans, trans-anesthetic stability, analgesia, and faster recovery.(AU)

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.

Elevated plasma miR-210 expression is associated with atypical genitalia in patients with 46,XY differences in sex development.

BACKGROUND: Differences of sex development (DSD) is a term used for conditions in which the chromosomal, gonadal or phenotypical sex is atypical. 46,XY DSD patients frequently present undervirilized external genitalia. The expression of different miRNAs in many organs of the male genital system has been reported, and these miRNAs have been associated with testicular function and its disorders, but no description has been related to DSD conditions. This study aimed to evaluate the plasma expression of miR-210 in 46,XY DSD patients who presented atypical genitalia at birth. METHODS: Eighteen 46,XY DSD patients who presented atypical genitalia (undescended testis and/or hypospadias, bifid scrotum or micropenis) at birth and 36 male control individuals were selected. Plasma levels of miR-210 and reference miR-23a were measured using RT-qPCR and the data were analysed by the 2-ΔCt method. RESULTS: MiR-210 plasma levels were significantly higher in 46,XY DSD patients with atypical genitalia than in male control subjects (p = 0.0024). A positive association between miR-210 levels and the presence of cryptorchidism and hypospadias (p = 0.0146 and p = 0.0223) was found in these patients. Significantly higher levels of miR-210 were observed in patients with 46,XY DSD and cryptorchidism than in control subjects (p = 0.0118). These results are in agreement with previous literature reports, in which increased levels of miR-210 expression were observed in human testicular tissue from adult males with undescended testes in comparison with samples of descended testes. CONCLUSION: Our study showed a positive association between the presence of atypical genitalia and plasma levels of miR-210 expression in the group of patients with 46,XY DSD of unknown aetiology studied. These findings contribute to reveal a new perspective on the role of miRNAs in the development of male external genitalia and the broad spectrum of phenotypes presented by patients with 46,XY DSD.

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.

Pregnant patient with prune belly syndrome: case report.

Prune belly syndrome is a rare congenital disease of unknown etiology that is present in one in every 40 thousand live births, and predominantly affects males, at a ratio of 4:1. In males, it presents with anomalies in the urinary system, absence of abdominal muscles, bilateral cryptorchidism, and infertility. In women, the syndrome has variable presentations, but fertility is preserved. Searching the medical literature, we found only one case of prune belly syndrome in pregnant women. Therefore, the patient in this report is the second case. She was primiparous, 25-years-old, with no abdominal muscles, severe congenital kyphoscoliosis, and pulmonary restriction. Elective cesarean section was performed at 37 weeks of gestation due to maternal risk of uterine rupture by transverse presentation and fetal risk of intrauterine growth restriction. The pre-anesthetic approach defined that general anesthesia might have more risks for the patient due to severe maternal lung disease compared to ultrasound-guided locoregional anesthesia. During prenatal care, there were some maternal complications, such as asthma exacerbations, abdominal pain, and constipation. The newborn was born small for gestational age and this can possibly be explained by maternal restrictive lung capacity. The newborn presented with Apgar score 8/9 and tachypnea, but improved after two hours of life.

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.

Teratoma quístico maduro testicular en un preescolar con criptorquidia, informe de un caso / Testicular mature cystic teratoma in a preschool with cryptorchidism. Case report

RESUMEN: los tumores testiculares son poco frecuentes en niños menores de 15 años y representan del 2 al 4% de todos los cánceres infantiles, la criptorquidia es el principal factor de riesgo para el desarrollo posterior de tumores de células germinales testiculares. Preescolar de 5 años de edad, con antecedente de criptorquidia izquierda sin tratamiento, desde hace 1 año presenta aumento progresivo de volumen en región inguinal izquierda la cual se extendía hasta la región escrotal izquierda, de consistencia pétrea, no doloroso a la palpación, sin adenomegalias, marcadores tumorales negativos, la ecografía testicular reporta: tumor quístico izquierdo, la tomografía de abdomen inferior reporta: tumor testicular izquierdo. se realizó orquiectomía radical izquierda y orquidopexia derecha, con evolución satisfactoria. se confirma el diagnostico de teratoma quístico maduro por biopsia e inmunohistoquímico. es importancia del diagnóstico y manejo precoz de la criptorquidia para evitar futuras neoplasias(AU)

SUMMARy testicular tumors are rare in children under 15 years of age and represent 2 to 4% of all childhood cancers, cryptorchidism is the main risk factor for the later development of testicular germ cell tumors. 5-year-old preschool boy, with a history of left cryptorchidism without treatment, for the last year he has presented a progressive increase in volume in the left inguinal which extended to the left scrotal region, of petrified consistency, not painful on palpation, without adenomegaly, negative tumor markers, testicular ultrasound reported: left cystic tumor, lower abdomen tomography reported: left testicular tumor. A left radical orchiectomy and right orchidopexy were performed, with satisfactory evolution. the diagnosis of mature cystic teratoma is confirmed by biopsy and immunohistochemistry. early diagnosis and management of cryptorchidism is important to avoid future neoplasms(AU)

The undescended testis in children and adolescents. Part 1: pathophysiology, classification, and fertility- and cancer-related controversies.

Undescended testis (UDT) is defined as failure of a testis to descend into the scrotum. It is one of the most common reasons for consultation in pediatric surgery and urology with an incidence of 3% in live-born male infants. Decades ago, classical studies established that the failure of a testis to descend alters the development of its germ cells increasing the risk of infertility and testicular cancer in adulthood. More recent publications have rebutted some of the myths and raised controversies regarding the management of these patients, which, far from being limited to surgical treatment, should include pathophysiological and prognostic aspects for a comprehensive approach to the condition. Therefore, here we present an updated review divided into two parts: the first assessing the pathophysiological aspects and risks of these patients focused on fertility and cancer, and the second addressing the different treatment options for UDT.