Application of fluorescence in situ hybridization combined with chromosomal karyotyping analysis in children with disorders of sex development due to sex chromosome abnormalities / 中华医学遗传学杂志

OBJECTIVE@#To retrospectively analyze sex chromosomal abnormalities and clinical manifestations of children with disorders of sex development (DSD).@*METHODS@#A total of 14 857 children with clinical features of DSD including short stature, cryptorchidism, hypospadia, buried penis and developmental delay were recruited from Zhengzhou Children's Hospital from January 2013 to March 2022. Fluorescence in situ hybridization (FISH) and chromosomal karyotyping were carried out for such children.@*RESULTS@#In total 423 children were found to harbor sex chromosome abnormalities, which has yielded a detection rate of 2.85%. There were 327 cases (77.30%) with Turner syndrome and a 45,X karyotype or its mosaicism. Among these, 325 were females with short stature as the main clinical manifestation, 2 were males with short stature, cryptorchidism and hypospadia as the main manifestations. Sixty-two children (14.66%) had a 47,XXY karyotype or its mosaicism, and showed characteristics of Klinefelter syndrome (KS) including cryptorchidism, buried penis and hypospadia. Nineteen cases (4.49%) had sex chromosome mosaicisms (XO/XY), which included 11 females with short stature, 8 males with hypospadia, and 6 cases with cryptorchidism, buried penis, testicular torsion and hypospadia. The remainder 15 cases (3.55%) included 9 children with a XYY karyotype or mosaicisms, with main clinical manifestations including cryptorchidisms and hypospadia, 4 children with a 47,XXX karyotype and clinical manifestations including short stature and labial adhesion, 1 child with a 46,XX/46,XY karyotype and clinical manifestations including micropenis, hypospadia, syndactyly and polydactyly, and 1 case with XXXX syndrome and clinical manifestations including growth retardation.@*CONCLUSION@#Among children with DSD due to sex chromosomal abnormalities, sex chromosome characteristics consistent with Turner syndrome was most common, among which mosaicism (XO/XX) was the commonest. In terms of clinical manifestations, the females mainly featured short stature, while males mainly featured external genital abnormalities. Early diagnosis and treatment are particularly important for improving the quality of life in such children.

The effect of scrotal versus inguinal orchiopexy on the testicular function of children with clinically palpable, inguinal undescended testis: a randomized controlled trial / 亚洲男科学杂志(英文版)

To compare the impact of the scrotal vs inguinal orchidopexy approach on the testicular function of infants with cryptorchidism, a randomized controlled trial was conducted involving boys who were 6-12 months old at surgery and were diagnosed with clinically palpable, inguinal undescended testis. Between June 2021 and December 2021, these boys at Fujian Maternity and Child Health Hospital (Fuzhou, China) and Fujian Children's Hospital (Fuzhou, China) were enrolled. Block randomization with a 1:1 allocation ratio was employed. The primary outcome was testicular function assessed by testicular volume, serum testosterone, anti-Müllerian hormone (AMH), and inhibin B (InhB) levels. Secondary outcomes included operative time, amount of intraoperative bleeding, and postoperative complications. Among 577 screened patients, 100 (17.3%) were considered eligible and enrolled in the study. Of the 100 children who completed the 1-year follow-up, 50 underwent scrotal orchidopexy and 50 underwent inguinal orchidopexy. The testicular volume, serum testosterone, AMH, and InhB levels in both groups increased markedly after surgery (all P < 0.05), but there were no apparent differences between groups at 6 months and 12 months after operation (all P > 0.05). No differences between the scrotal and inguinal groups were noted regarding the operative time ( P = 0.987) and amount of intraoperative bleeding ( P = 0.746). The overall complication rate (2.0%) of the scrotal group was slightly lower than that of the inguinal group (8.0%), although this difference was not statistically significant ( P > 0.05). Both scrotal and inguinal orchiopexy exerted protective effects on testicular function in children with cryptorchidism, with similar operative status and postoperative complications. Scrotal orchiopexy is an effective alternative to inguinal orchiopexy in children with cryptorchidism.

Ipsilateral and contralateral patent processus vaginalis in pediatric patients with a unilateral nonpalpable testis / 亚洲男科学杂志(英文版)

This study aimed to investigate the incidence of patent processus vaginalis (PPV) in pediatric patients with a unilateral nonpalpable testis and explore the associated factors. From May 2014 to April 2017, 152 boys who were diagnosed with a unilateral nonpalpable testis and underwent laparoscopy in Shanghai Children's Hospital (Shanghai, China) were included in this study. The data were collected and reviewed, and the results were analyzed regarding the age at operation, side, development, and position of the nonpalpable testis. The mean age of the patients was 2.6 (standard deviation: 2.3) years. The testis was absent in 14 cases, nonviable in 81 cases, and viable in 57 cases. The incidence of PPV was 37.5% (57 of 152) on the ipsilateral side and 16.4% (25 of 152) on the contralateral side. The ipsilateral PPV was more prevalent when the nonpalpable testis occurred on the right side ( P < 0.01). Besides, patients with a viable testis had a greater incidence of ipsilateral PPV than those with a nonviable or absent testis ( P < 0.01). Moreover, this rate was the highest when the testis was in the abdominal cavity and the lowest when the testis was in the scrotum (both P < 0.01). However, the incidence of contralateral PPV was independent of all the factors. In conclusion, in children with a nonpalpable testis, the incidence of an ipsilateral PPV was significantly related to the side, development, and position of the testis, while it was independent of these factors on the contralateral side.

Clinical, genetic, and pathological analysis in 165 children with disorders of sex development / 中国当代儿科杂志

OBJECTIVES@#To investigate the clinical phenotypes, genetic characteristics, and pathological features of children with disorders of sex development (DSD).@*METHODS@#A retrospective analysis was conducted on epidemiological, clinical phenotype, chromosomal karyotype, gonadal pathology, and genotype data of 165 hospitalized children with DSD at Children's Hospital of Hebei Province and Tangshan Maternal and Child Health Hospital from August 2008 to December 2022.@*RESULTS@#Among the 165 children with DSD, common presenting symptoms were short stature (62/165, 37.6%), clitoromegaly (33/165, 20.0%), cryptorchidism (28/165, 17.0%), hypospadias (24/165, 14.5%), and skin pigmentation abnormalities/exteriorized pigmented labia majora (19/165, 11.5%). Chromosomal karyotype analysis was performed on 127 cases, revealing 36 cases (28.3%) of 46,XX DSD, 34 cases (26.8%) of 46,XY DSD, and 57 cases (44.9%) of sex chromosome abnormalities. Among the sex chromosome abnormal karyotypes, the 45,X karyotype (11/57, 19%) and 45,X/other karyotype mosaicism (36/57, 63%) were more common. Sixteen children underwent histopathological biopsy of gonadal tissues, resulting in retrieval of 25 gonadal tissues. The gonadal tissue biopsies revealed 3 cases of testes, 3 cases of dysplastic testes, 6 cases of ovaries, 11 cases of ovotestes, and 1 case each of streak gonad and agenesis of gonads. Genetic testing identified pathogenic/likely pathogenic variants in 23 cases (23/36, 64%), including 12 cases of 21-hydroxylase deficiency congenital adrenal hyperplasia caused by CYP21A2 pathogenic variants.@*CONCLUSIONS@#Short stature, clitoromegaly, cryptorchidism, hypospadias, and skin pigmentation abnormalities are common phenotypes in children with DSD. 45,X/other karyotype mosaicism and CYP21A2 compound heterozygous variants are major etiological factors in children with DSD. The most commonly observed gonadal histopathology in children with DSD includes ovotestes, ovaries, and testes/dysgenetic testes.

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.

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)

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.

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.

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.

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.

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.

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

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.