[Association between maternal peri-conceptional exposures and risk of hypospadias and cryptorchidism in offspring].

Objective: To investigate the relationship between maternal exposures to peri-conceptional risk factors and the risk of hypospadias and cryptorchidism in offspring. Methods: Pregnant women who delivered male newborns and participated in the China birth cohort study between February 2018 and December 2020 at the research center of Beijing Obstetrics and Gynecology Hospital, Capital Medical University were selected for the study. All were enrolled at 6-13+6 weeks of their gestation. Baseline risk factor information was collected by questionnaire survey. Information on the outcome of hypospadias and cryptorchidism was obtained by clinical examination at birth and ultrasonography. Logistic regression was used to analyze the Odds Ratio (OR) and 95% Confidence Interval (95%CI) of each factor with respect to the onset of the outcome. Results: A total of 15, 833 pregnant women with an average age of (31.81±3.84) years were included. Among their offsprings, 113 were diagnosed as hypospadias or cryptorchidism (42 hypospadias, 69 cryptorchidism, and 2 both hypospadias and crypterchidism), with an incidence of 7.14‰. The results of multivariate logistic regression analysis showed that mothers with pregnancy history of birth defects (OR=3.01, 95%CI: 1.09-8.35), with preconception Hepatitis B infection (OR=4.74, 95%CI: 1.10-20.42), fetal growth restriction (OR=4.02, 95%CI: 2.10-7.68), multivitamin use since preconception (OR=1.98, 95%CI: 1.12-3.52), and never cook and eat at home (OR=2.17, 95%CI: 1.23-3.82) were risk factors for hypospadias and cryptorchidism (all P<0.05). Conclusions: Obesity in early pregnancy, preconception Hepatitis B infection, pregnancy history of birth defects, fetal growth restriction, multivitamin use before pregnancy, and rarely cook and eat at home were associated with an increased risk of hypospadias or cryptorchidism in their offsprings.

Diagnoses and Treatment of Acquired Undescended Testes: A Review.

Acquired undescended testes were once considered a sporadic disease. In recent years, reports suggest that they are not uncommon, with an incidence rate about 3 times that of congenital undescended testes. The etiology of acquired undescended testes remains inconclusive, clinical diagnostic standards are unclear, and treatment approaches are still controversial. There is ongoing debate about the mechanism of testicular ascent. The prevailing view is that acquired undescended testes occur due to the partial absorption of the gubernaculum, which forms part of the parietal peritoneum. The residual gubernacular fibers continuously pull on the spermatic cord, preventing the spermatic cord from elongating proportionately to somatic growth, leading to a re-ascent of the testis. Acquired undescended testes may increase the risk of testicular cancer, but this is still debated. The preferred treatment method is also controversial. However, surgical fixation has an immediate effect; no studies have proven that early surgery improves fertility in patients. The etiology of acquired undescended testes is closely related to the continuous pull of the residual gubernacular fibers on the spermatic cord, which prevents the cord from extending proportionately to body growth. There are no clear diagnostic standards for acquired undescended testes yet, and spontaneous descent is possible, so testicular fixation surgery may not be the preferred treatment method.

Obliteration of the Processus Vaginalis After Testicular Descent

The testis develops in the abdominal cavity and descends into the scrotum. Although numerous theories have been proposed, the mechanism of descent and the reason for its inhibition remain unknown. Furthermore, none of the explanations account for the other occurrences related to the descent, such as failed obliteration of the processus vaginalis, or the reasons for the decrease in fertility and increase in the risk of malignancy associated with an undescended testis. The gubernaculum is a primitive mesenchymal tissue that was first described in 1786. However, the role of the gubernaculum in the descent process remains obscure. The testis descends through the processus vaginalis. Although the processus vaginalis (PV) is usually defined as a simple peritoneal protrusion, it actively develops into the gubernaculum. The gubernaculum gives rise to the smooth muscles that surround the processus vaginalis. The striated cremaster muscle (CM) is also derived from the gubernaculum. Because the testis descends through the processus vaginalis, the muscles develop to propel the testis. After propelling the testis, the smooth muscle (SM) undergoes programmed cell death. The initiation of programmed cell death through the intrinsic pathway requires activation of phospholipase C. A transient shift in the autonomic balance via a decrease in the sympathetic tonus and an increase in the parasympathetic tonus is essential for initiating this programmed cell death. Programmed cell death in the SM is the physiological pathway for the obliteration of the processus vaginalis. Differences in the timing, intensity, or duration of this physiological pathway result in pathological conditions. A shift before testicular descent diminishes the SM content that is required to propel the testis, and thus inhibits descent. The early shift persists throughout childhood and results in the decrease in fertility and increase in the risk of malignancy because of the differences in signal transduction. Despite a successful descent, persistence of the shift alters the contractility of the CM by increasing the cytosolic calcium levels. Contracted CMs retracts or even ascends the testis. Inadequate intensity or duration of the shift of autonomic tonus causes failure of the programmed cell death. Persistence of the SM hinders the obliteration of PV and gives rise to hydroceles or inguinal hernias depending on the amount of residual smooth muscles. Similar findings from different countries support these explanations. Thus, our proposed mechanism satisfactorily explains the process of descent while considering all the factors related to the process of testicular descent.

Smoking and its association with cryptorchidism in Down syndrome / Associação entre tabagismo e criptorquidia na síndrome de Down

Summary Introduction: Cryptorchidism is a common and prevalent condition in patients with Down syndrome. Environmental factors, such as smoking, can be associated with malformations during fetal development. The study of the prevalence of cryptorchidism and its association with parental tobacco use in Down syndrome can contribute to alert health care professionals, patients and family members regarding the prevention of the harms caused by cryptorchidism and its possible predisposing factors. Objective: To evaluate the prevalence of cryptorchidism in Down syndrome and its association with maternal and paternal smoking. Method: Forty (40) patients of a public clinic specialized in Down syndrome were evaluated, using a semi-structured questionnaire for evaluation of antecedents and sociodemographic characteristics, as well as physical and complementary examinations. Results: Cryptorchidism was observed in 27.5% of the patients (95CI 15.98-42.96). Of these, 55% (5/9) were the children of mothers who smoked during pregnancy, and 19.35% (6/31) were the children of mothers who did not smoke during pregnancy (OR = 5.26 [95CI 1.06-25.41]; p=0.032). Similarly, paternal smoking was also observed in greater frequency among the parents of cryptorchid patients compared with subjects with descended testis, 63.36% (7/11) and 31.03% (9/29), respectively (OR = 3.89 [95CI 0.91-16.73]; p=0.060). Conclusion: The prevalence of cryptorchidism is high in patients with Down syndrome. We can show a strong association between smoking parents and the occurrence of cryptorchidism, especially when it comes to maternal smoking.

Resumo Introdução: A criptorquidia é uma condição comum e prevalente em pacientes com síndrome de Down. Fatores ambientais, como o tabagismo, estão associados a malformações fetais. A avaliação da prevalência do criptorquidismo e a associação com tabagismo dos pais na síndrome de Down podem contribuir para alertar os profissionais de saúde e familiares sobre a prevenção dos danos causados pelo criptorquidismo e os possíveis fatores predisponentes. Objetivo: Avaliar a prevalência de criptorquidismo na síndrome de Down e a associação com tabagismo materno e paterno. Método: Quarenta (40) pacientes acompanhados em um centro de referência para atendimento da síndrome de Down foram avaliados por meio de questionário semiestruturado para avaliação de antecedentes parentais e características sociodemográficas, bem como de exames físico e laboratoriais complementares. Resultados: Criptorquidia foi observada em 27,5% dos pacientes (IC95% 15,98-42,96). Nesses pacientes, o criptorquidismo foi encontrado em 55% (5/9) das crianças cujas mães fumavam e em 19,35% (6/31) daquelas cujas mães não fumavam (OR = 5,26 [IC95% 1,06-25,41]; p=0,032). Do mesmo modo, o tabagismo paterno foi observado com maior frequência entre crianças com criptorquidia, 63,36% (7/11) e 31,03% (9/29), respectivamente (OR = 3,89 [IC95% 0,91-16,73]; p=0,060). Conclusão: A prevalência de criptorquidismo é alta em pacientes com síndrome de Down. Podemos mostrar uma forte associação entre hábito tabágico dos pais e ocorrência de criptorquidismo, especialmente no caso de tabagismo materno.

Exposición a disruptores endocrinos y otros factores paternos en la etiología del hipospadias y la criptorquidia / Endocrine disrupting chemicals exposure and other parental factors in hypospadias and cryptorchidism etiology

Objetivos. Investigar la asociación entre la exposición a disruptores endocrinos (DE) y otros factores en el desarrollo del hipospadias y la criptorquidia. Material y métodos. Estudio de casos y controles. Consideramos como casos a los niños de entre 6 meses y 6 años de edad diagnosticados de hipospadias y/o criptorquidia que acudieron a las consultas de Urología/Cirugía durante un período de estudio de 6 meses y como controles, a los niños con mismo rango de edad que acudieron a las mismas consultas con otros diagnósticos. Recogimos las variables de interés mediante una encuesta epidemiológica y comparamos los resultados obtenidos en cada grupo mediante tests estadísticos paramétricos. Resultados. Estudiamos 180 pacientes, 90 casos (45 hipospadias/45 criptorquidias) y 90 controles, con edad media de 2,60 ± 1,72 años [rango 0,5-6]. Las medias de edad gestacional y peso al nacer fueron menores en el grupo-caso sin objetivarse diferencias significativas. La edad media materna fue significativamente mayor en el grupo-caso (34,40 ± 5,64 versus 31,74 ± 5,05; p= 0,001). Encontramos asociación significativa entre la exposición ocupacional materna a DE (ftalatos principalmente) y el grupo-caso siendo la Odds ratio (OR) de 3,67 (IC 95%: 1,28-10,51; p= 0,018) y también en la paterna (principalmente a pesticidas/herbicidas) con OR= 6,65 (IC 95%: 2,60-17,02; p= 0,001). Encontramos asociación significativa entre el consumo de tabaco y alcohol paternos y el grupo-caso: OR= 2,08 (IC 95%: 1,11-3,87; p= 0,029) y OR= 2,50 (IC 95%: 1,36-4,57; p= 0,003) respectivamente. Conclusiones. Este estudio supone una pequeña aportación respecto a los posibles factores etiológicos del hipospadias y la criptorquidia, y demuestra la necesidad de estudios ulteriores con mayor potencia estadística para aumentar la evidencia científica de nuestros hallazgos

Aim of the study. To investigate the association between endocrine disrupting chemicals (EDC) exposure and other paternal factors in the etiology of hipospadias and cryptorchidism. Methods. A case-control study. Cases were infants between 0 and 6 years of age diagnosed with hypospadias or cryptorchidism in our pediatric urology and general pediatric surgery services during a period of 6 months, and controls were infants with the same range of age attending the same services without any urological problem. Several variables were collected by face-to-face interviews with both parents. After data abstraction, we compared the characteristics of both groups using parametric statistical tests. Main results. A total of 180 patients were studied, 90 cases (45 hypospadias/45 cryptorchidism) and 90 controls with a mean age of 2,37 ± 1.50 years [range 0,5-6]. Median of mother´s age was significantly greater in case group (34,40 ± 5,64 versus 31,74 ± 5,05; p= 0,001). Significant differences were observed between cases and controls in regard to maternal occupational exposure to EDC (mainly phthalates), adjusted Odds ratio (OR) was 3.67 [95% confidence interval (CI): 1.28- 10.51; p= 0,018] and regarding the paternal occupational exposure to EDC (mainly pesticides and herbicides), adjusted OR was 6.65 [95% CI: 2.60-17.02; p= 0,001]. Increased risk was also observed in smoking fathers and fathers who drink alcohol, adjusted Odds ratio were 2.36 [95% CI: 1.11-3.87; p= 0,029] and 2.50 [95% CI: 1.36-4.57; p= 0,003] respectively. Conclusions. This study represents a little contribution to the possible etiologic factors of hypospadias and cryptorchidism, further studies with higher statistical power would be needed to prove it

Splenogonadal fusion and testicular cancer: case report and review of the literature / Fusão esplenogonadal e câncer testicular: relato de caso e revisão da literatura

A 36 year-old man after tests for assessing male infertility was diagnosed with primary infertility, bilateral cryptorchidism, nonobstructive azoospermia and discontinuous splenogonadal fusion. Carcinoma in situ was found in his left testicle, which was intraabdominal and associated with splenogonadal fusion. To our knowledge, this is the fourth case of splenogonadal fusion associated with testicular cancer reported. One should always bear in mind the possibility of this association for the left cryptorchid testicle.

Um homem de 36 anos, depois de ser submetido a exames para avaliação de infertilidade masculina, foi diagnosticado com infertilidade masculina primária, criptorquidia bilateral, azoospermia não obstrutiva e fusão esplenogonadal descontínua. Carcinoma in situ estava presente no testículo esquerdo, que tinha localização intra-abdominal e estava associado à fusão esplenogonadal. Esse é o quarto caso de fusão esplenogonadal associada a câncer testicular, segundo nossa avaliação. Deve-se sempre ter em mente a possibilidade dessa associação em testículos criptorquídicos à esquerda.

¿Existen relaciones entre los factores ambientales rurales y la salud reproductiva en la Pampa Húmeda Argentina? / Is there any relationship between rural environmental factors and reproductive health in the Pampa Humeda in Argentina?

La relación entre factores ambientales y salud es un hecho reconocido. La influencia de ambientes rurales sobre la salud reproductiva ha sido fehacientemente probada en diferentes regiones del mundo, tanto en la fauna como en humanos. En América Latina pocas investigaciones han sido realizadas en este campo. El presente proyecto se establece sobre la base de la describir las relaciones entre salud reproductiva y factores ambientales en poblaciones rurales, caracterizada por aspectos ambientales particulares. Tres variables han sido evaluadas: relación de nacimientos masculinos/femeninos; incidencia de malformaciones uro-genitales masculinas (hipospadias y criptorquidias); e incidencia de cánceres hormono-dependientes. Se seleccionaron cinco comunidades rurales de la Pampa Húmeda de Argentina, comparándose los datos obtenidos con medias nacionales. Los datos bio-médicos y las fuentes ambientales de riesgo fueron relacionados entre sí a través de un sistema de geo-referenciación. La relación de nacimientos no mostró significación. Las malformaciones presentaron una muy significativa incidencia. Los cánceres hormono-dependientes presentaron incidencia mayores a las medias nacionales, particularmente en algunas de las comunidades estudiadas. Se concluye que existe una relación entre condiciones de salud reproductiva y factores ambientales en esta región.

The relationship between environmental factors and health is well known. Rural environmental influences on reproductive health have been properly proved, both in animals and humans. In Latin America, few studies have been conducted in this area. The current project is based on the description of relationships between reproductive health and environmental factors in rural populations, characterized by specific environmental characteristics. Three variables were evaluated: male-to-female birth ratio, male urogenital malformations (cryptorchidism and hypospadias), and endocrine-related cancer incidence. Five rural communities in the Pampa Humeda in Argentina were selected, and the data were compared to the national mean. Biomedical data and environmental risk factors were correlated through a geographic information system. The ratio of male to female births did not show any differences. Malformations showed very significant differences. Endocrine-related cancers showed higher incidence rates compared to the national mean, particularly in some communities. In conclusion, there is a relationship between environmental factors and reproductive health conditions in this region.

Alteraciones histológicas del músculo cremáster en determinados procesos del canal inguinal / Histological alterations of the muscle cremaster in certain inguinal-scrotal anomalies

La alteración en el músculo cremáster se ha implicado en la patogenia de determinados procesos inguinoescrotales, sin que en la actualidad existan estudios concluyentes. El objetivo de nuestro trabajo es determinar si existen alteraciones en el músculo cremáster (MC) que ayuden a explicar la etiopatogenia de distintos procesos como la hernia inguinal, el hidrocele o el mal descenso testicular. Realizamos el estudio en 42 pacientes afectos de: hernia inguinal (n = 14), criptorquidia (n = 14) e hidrocele (n = 14). Se toman muestras del músculo cremáster en el momento de la intervención quirúrgica. Las piezas quirúrgicas fueron repartidas por un lado para inclusión en formol y glutaraldehído y por otro, en suero fisiológico y congelación para estudio histoquímico. Se tiñeron con hematoxilina-eosina, Pas y hematoxilina fosfotúgstica. En el estudio histoquímico se empleó NADH, fosforilasas y el tricrómicro de Engel. Se valoran parámetros indicativos de cambios miopáticos. Todos las muestras de MC de los tres grupos presentaron cambios miopáticos de tipo primario en distinto grado: primer, segundo y tercer estadio. Dichas muestras producen alteraciones en la contractilidad del músculo, lo que podría colaborar en la patogenia de las mismas. Le existencia de cambios miopáticos primarios nos podría hacer pensar en una miopatía primaria, si bien existen datos que apuntan a una participación neurológica en la misma (AU)

The alteration in the cremaster muscle has been involved in the pathogeny of certain inguinal-scrotal anomalies, even though there are no conclusive studies up to date. The target of our paper is to determine the eventual existence of alterations in the cremaster muscle (CM) that helps to explain the etiopathogeny of different anomalies such as inguinal hernia, hydrocele or undescended testicle. We carried out a study on 42 patients with: inguinal hernia (n = 14), cryptorchidism (n = 14) and hydrocele (n = 14). Samples of the cremaster muscle were taken during the surgical intervention. Surgical samples were introduced or into formol and glutaraldehyde or into physiological serum and freezing for histological study. They were dyed with hematoxilin-eosin, PAS and phosphotungstic acid haematoxilin. In the histochemical study NADH, phosphoric hydrolases and Engel´s trichromic were used. Parameters indicative of myopathic changes were evaluated. All CM samples from all three groups showed myopathic changes of primary type in different levels: first, second and third stages. This changes that produce alterations in the muscle´s contractility, changes might make us think in a primary myopathy even though there are data pointing to a neurological influence on it (AU)

Síndrome de Beckwith-Wiedemann. Aportación de cinco casos y revisión de la literatura / Beckwith-Wiedemann syndrome: a report

Presentamos nuestra experiencia con el síndrome de Beckwith-Wiedemann (SBW), aportando cinco casos, cuyo diagnóstico y seguimiento se llevó a cabo en nuestro centro y que se registraron desde el año 1987 hasta 1998. Todos ellos son hijos de padres sanos no consanguíneos. Presentan un desarrollo psicomotor normal, y la edad media de seguimiento ha sido de 5,2 años (rango: 20 meses-10 años). Todos ellos, menos uno, cumplen al menos 3 criterios mayores: patología onfalica, macroglosia, hipoglucemia neonatal y gigantismo pre y/o posnatal y alguno de los diferentes criterios menores descritos en este síndrome. Los cinco pacientes sobreviven en la actualidad. El caso 5 es una forma incompleta de la enfermedad, pero que presenta la característica del desarrollo de un tumor de Wilms a lo largo de su evolución (AU)

Síndrome de Cobb. Un caso asociado a escoliosis, nefromegalia, criptorquidia y alteraciones de la coagulación / Cobb's syndrome. A case associated to scoliosis, nephromegaly, crytorchism and coagulation disorders

El síndrome de Cobb consiste en la asociación de una malformación arteriovenosa o venosa a nivel cutáneo que coexiste con una extensión a planos musculares profundos, áreas paravertebrales y ocasionalmente a la médula espinal, a nivel del mismo dermotomo. En raras ocasiones existen otras malformaciones asociadas. La lesión está presente desde el nacimiento, es de crecimiento lento y progresivo y puede determinar una compresión medular y paraplejía. Presentamos un caso de síndrome de Cobb asociado a múltiples malformaciones: nefromegalia, escoliosis y criptorquidia, todas localizadas en el lado derecho del abdomen. La lesión era estable, pero desde hace 5 años presentó una agravación demostrada por la presencia de nuevas lesiones, sangrado de las mismas y alteraciones de las vértebras, provocando intenso dolor lumbar. En ese momento se encontraron alteraciones de coagulación, especialmente en el sector de las plaquetas, por lo cual se inició tratamiento con antiagregantes plaquetarios y dos amplias intervenciones quirúrgicas que estabilizaron la lesión vascular. Desde hace más de 3 años existe una total ausencia de signos de actividad por la desaparición del sangrado y del dolor lumbar. Sugerimos que este fenómeno en la evolución de la lesión vascular podría estar relacionado con la liberación de factores mitogénicos de las plaquetas activadas que actuando sobre la célula endotelial influirían sobre la neoangiogénesis (AU)

Testículo no descendido / Cryptorchidism

Testículo no descendido es la falta de descenso testicular en el saco escrotal. Si esto ocurre en cualquier punto del trayecto normal de descenso recibe el nombre de criptorquidia y si ésta se ubica por fuera se denomina testículo ectópico. El testículo retráctil o en ascensor es aquel testículo no descendido que desciende fácil a nivel escrotal y permanece en éste durante el examen, constituyendo una condición normal frecuente durante la infancia, especialmente entre los 2 y 7 años, por un acentuado reflejo cremasteriano

Testículo perineal ectópico / Ectopic perineal testis in adulthood

Perineal testis is a rare condition. We report on a Caucasian male, 34 years old, with chronical perineal pain associated with ectopic testis. He underwent an orchidopexy with complete relief of symptoms. The histological analisys of the testis showed normal spermatogenesis and the patient fertility was not impaired. The literature is briefly reviewed

Criptorquidismo: uma visäo atual / Cryptorchidism: an update

O criptorquidismo é uma das patologias testiculares mais frequentes em todas as raças, apresentando distribuiçäo global e podendo ter consequências desastrosas quando näo diagnosticado e tratado adequadamente. Os autores revisam as principais características epidemiológicas, etiológicas e diagnósticas desta patologia, dando especial atençäo às tendências terapêuticas atuais

Les problemes poses par les testicules non descendus

L'auteur; qui donne d'abord le sens de testicule non descendu; expose ensuite les raisons de cette malformation. A 5 ans d'age; avec une cryptorichidie unilaterale droite non palpable; l'auteur pense qu'il n'y a pas de la place pour un traitement hormonal; seul un traitement chirurgical se justifie et devra etre realise sans delai