RESUMEN
OBJECTIVE: It was to verify the association between the definition of sex of rearing and, clinical and cytogenetic features among patients with genital ambiguity referred without a sex assignment. METHODS: The sample consisted of 133 patients with genital ambiguity seen at a single reference service. These patients did not have a defined social sex at the first consultation and their etiological diagnosis was obtained during follow-up. RESULTS: A total of 133 cases were included, 74 of which were reared as males and 59 as females. No correlation was found between the year of birth and the year of the first consultation with the definition of sex of rearing. However, the definition of sex of rearing was associated with age at the first consultation, severity of genital ambiguity, presence of palpable gonad(s), presence of uterus on ultrasound, karyotype, and diagnosis. Palpable gonad(s), more virilized genitalia, absence of a uterus on ultrasound, 46, XY karyotype, or a karyotype with sex chromosome abnormalities emerged as strong predictors for defining male sex. All 77 (58 %) patients over 18 years old had a gender identity in accordance with the sex of rearing; though 9 of 77 (12 %) had homo or bisexual orientation, especially girls with Congenital Adrenal Hyperplasia. CONCLUSIONS: Clinical and cytogenetic data were strongly associated with the definition of the sex of rearing of children with genital ambiguity referred to a DSD center without sex assignment. Management in a specialized center allows the establishment of a gender identity in accordance with the sex of rearing.
Asunto(s)
Trastornos del Desarrollo Sexual , Humanos , Masculino , Femenino , Niño , Adolescente , Preescolar , Lactante , Trastornos del Desarrollo Sexual/genética , Trastornos del Desarrollo Sexual/diagnóstico , Identidad de Género , CariotipificaciónRESUMEN
Contexto: Luteoma é neoplasia rara e benigna do ovário, específica da gravidez. Considera-se que seja causada por efeitos hormonais, principalmente da gonadotrofina coriônica. Objetivo: Analisar artigos selecionados sobre luteoma da gravidez e realizar revisão bibliográfica a partir dessas publicações. Desenho: A busca dos artigos foi realizada por meio da plataforma PubMed. Procedeu-se uma busca aos descritores da doença e seu correspondente em inglês (luteoma) no portal da BVSalud. Métodos: Consistiu em revisão bibliográfica, onde foram utilizados artigos publicados de 1972 até 2022. Resultados: A origem celular dos luteomas ainda é desconhecida, mas considera-se que tal processo ocorra devido a uma reação hiperplásica à gravidez, visto que o efeito de virilização regride após o parto. Discussão: Sendo pouco diagnosticado, tendo menos de 200 casos reportados, são geralmente achados durante parto cesáreo ou durante ligadura tubária no pós-parto. Seu aparecimento está relacionado a fatores hormonais da gravidez e hiperplasia ocasionada pela luteinização das células estromais. Os efeitos do luteoma gravídico no organismo estão relacionados, além da virilização da paciente e do feto, com o surgimento da síndrome do ovário policístico e diabetes. Conclusões: Tendo baixa incidência, o luteoma gravídico pode se apresentar como desafio para seu diagnóstico adequado. O diagnóstico precoce permitirá o tratamento adequado, evitando-se efeitos indesejáveis, virilizantes, para a gestante e para o nascituro. É fundamental o preparo dos profissionais de saúde para o diagnóstico e tratamento do luteoma gravídico.
Asunto(s)
Ovario , Luteoma , Neoplasias , Trastornos del Desarrollo Sexual , HiperandrogenismoRESUMEN
In mammals, the development of male or female gonads from fetal bipotential gonads depends on intricate genetic networks. Changes in dosage or temporal expression of sex-determining genes can lead to differences of gonadal development. Two rare conditions are associated with disruptions in ovarian determination, including 46,XX testicular differences in sex development (DSD), in which the 46,XX gonads differentiate into testes, and 46,XX ovotesticular DSD, characterized by the coexistence of ovarian and testicular tissue in the same individual. Several mechanisms have been identified that may contribute to the development of testicular tissue in XX gonads. This includes translocation of SRY to the X chromosome or an autosome. In the absence of SRY, other genes associated with testis development may be overexpressed or there may be a reduction in the activity of pro-ovarian/antitesticular factors. However, it is important to note that a significant number of patients with these DSD conditions have not yet recognized a genetic diagnosis. This finding suggests that there are additional genetic pathways or epigenetic mechanisms that have yet to be identified. The text will provide an overview of the current understanding of the genetic factors contributing to 46,XX DSD, specifically focusing on testicular and ovotesticular DSD conditions. It will summarize the existing knowledge regarding the genetic causes of these differences. Furthermore, it will explore the potential involvement of other factors, such as epigenetic mechanisms, in developing these conditions.
Asunto(s)
Testículo , Humanos , Masculino , Testículo/patología , Testículo/metabolismo , Animales , Femenino , Trastornos del Desarrollo Sexual 46, XX/genética , Trastornos del Desarrollo Sexual 46, XX/patología , Diferenciación Sexual/genética , Trastornos del Desarrollo Sexual/genética , Trastornos del Desarrollo Sexual/patologíaRESUMEN
Hypospadias is an uncommon sexual development disorder in cats, in which the urethral opening is not in its anatomical location on the penis. The purpose of this report is to describe two cases of hypospadias in the feline species. The first cat was asymptomatic, had a history of bacterial cystitis, and was diagnosed with perineal hypospadias at an appointment for preoperative evaluation of orchiectomy. The second cat had clinical signs of dysuria and pollakiuria for 30 days and had glandular hypospadias. Both cats showed abnormalities in the urinalysis which were suggestive of lower urinary tract disease. For both cases, clinical treatment with antibiotic therapy was performed. In the first patient, surgical treatment consisted of orchiectomy, while in the second animal a perineal urethrostomy and orchiectomy were performed. The cats had a satisfactory recovery after the treatments. Performing a thorough physical examination is essential to diagnose cases of hypospadias and choose the best treatment for each patient.
A hipospadia é uma desordem do desenvolvimento sexual pouco comum nos gatos, na qual a abertura uretral não está em sua localização anatômica do pênis. O objetivo do presente relato é descrever dois casos de hipospadia em felinos domésticos. O primeiro gato era assintomático, tinha histórico de cistite bacteriana prévio, e foi diagnosticado com hipospadia perineal em uma consulta para avaliação pré-cirúrgica de orquiectomia. O segundo gato apresentava sinais clínicos de disúria e polaquiúria há 30 dias e apresentava hipospadia glandular. A partir dos exames complementares, pôde-se observar que os animais, além do defeito anatômico, apresentavam alterações sugestivas de doença do trato urinário inferior. Para ambos os casos, foi realizado o tratamento clínico inicial com antibioticoterapia. No primeiro paciente, optou-se pelo procedimento de orquiectomia, enquanto no segundo animal foram realizadas as técnicas de uretrostomia perineal e orquiectomia. Os gatos mostraram recuperação satisfatória após os tratamentos instituídos. Dessa forma, pode-se observar a importância de se realizar um exame físico minucioso a fim de diagnosticar os casos de hipospadia e escolher o tratamento correto para cada paciente.
Asunto(s)
Animales , Gatos , Trastornos del Desarrollo Sexual/veterinaria , Uretra/anomalías , Enfermedades Uretrales/veterinaria , Enfermedades de los Gatos , Hipospadias/veterinariaRESUMEN
Intersex children in Brazil are still subjected to "normalizing" surgical procedures and subsequent bodily interventions to make their bodies conform to binary views of sex. Resolution n. 1,664/2003 of the Brazilian Federal Council of Medicine legitimizes interventions upon intersex bodies, being the only national normative instrument that address the subject. However, the demands of international intersex political activism have denounced how early childhood interventions for sex designation mutilate children's bodies and violate a number of human rights. This research discusses how early, irreversible, and normalizing procedures performed without the intersex person's consent are human rights violations. Based on the concept of epistemic (in)justice, we first look at the disputes surrounding the evidence that underpin medical practices. We demonstrate how such procedures violate human rights to health, body integrity, autonomy, and sexual and reproductive rights, analyzing which strategies were put into place to prevent them. We propose that intersex people be at the center of decisions regarding their bodies, that non-surgical paths be discussed with patients and their family members, and that early, invasive, mutilating, harmful, cosmetic, and unconsented surgical interventions on intersex children be prohibited. Guiding tools must introduce changes into its regulatory bias to, from an interdisciplinary perspective, include bioethical and human rights bodies, as well as intersex activists.
No Brasil, crianças intersexo ainda são submetidas a procedimentos para designação de sexo binário no nascimento e a intervenções corporais subsequentes. A Resolução nº 1.664/2003, do Conselho Federal de Medicina, legitima intervenções sobre as corporalidades intersexo, se constituindo como o único instrumento normativo nacional que trata sobre o tema. No entanto, as demandas advindas do ativismo político internacional intersexo vêm expondo o quanto as intervenções precoces na infância para a designação de um sexo binário mutilam os corpos das crianças e violam uma série de direitos humanos. Esta pesquisa visa identificar como os procedimentos precoces, irreversíveis e normalizadores, realizados sem o consentimento da pessoa intersexo, revelam-se violadores de direitos humanos. Sob as lentes do conceito de (in)justiça epistêmica, partimos das disputas em torno da produção de evidências que embasam as práticas médicas. Demonstramos como esses procedimentos violam os direitos humanos à saúde, à integridade corporal e à autonomia e os direitos sexuais e reprodutivos, e analisamos quais têm sido as estratégias para evitar essas violações. Propomos que pessoas intersexo estejam no centro das decisões sobre o próprio corpo e que sejam debatidos, junto a pacientes e familiares, caminhos não cirúrgicos e proibidas intervenções precoces, invasivas, mutilatórias, prejudiciais, cosméticas e não consentidas nos corpos de crianças intersexo. A proposição de mudanças em instrumentos norteadores que deixem de regular esses corpos é necessária para, a partir de uma perspectiva interdisciplinar, incluir instâncias bioéticas e de direitos humanos, assim como pessoas do ativismo político intersexo.
En Brasil, los niños intersexuales todavía están sujetos a procedimientos de asignación de sexo binario al nacer y a intervenciones corporales posteriores. La Resolución nº 1.664/2003, del Consejo Federal de Medicina, asegura las intervenciones sobre corporalidades intersexuales y es el único instrumento normativo nacional sobre el tema. Sin embargo, las demandas que surgieron desde el activismo político internacional intersexual plantean cómo las intervenciones tempranas en la infancia para la asignación de género binario mutilan el cuerpo de los niños y vulneran una serie de derechos humanos. Esta investigación tiene por objetivo identificar cómo los procedimientos tempranos, irreversibles y normalizadores, realizados sin el consentimiento de la persona intersexual producen violadores de los derechos humanos. Con base en el concepto de (in)justicia epistémica, partimos de las disputas en torno a la producción de evidencia que subyace a las prácticas médicas. Demostramos cómo estos procedimientos vulneran los derechos humanos a la salud, la integridad y autonomía corporales, y los derechos sexuales y reproductivos, además, analizamos qué estrategias se han utilizado para evitarlos. Debatimos que las personas intersexuales deben estar en el centro de las decisiones sobre sus propios cuerpos y que se discutan con pacientes y familiares formas no quirúrgicas e intervenciones tempranas, invasivas, mutiladoras, dañinas, cosméticas y no consensuales en los cuerpos de los niños intersexuales. Los cambios en los instrumentos rectores para que dejen de regular estos cuerpos son necesarios para que, desde una perspectiva interdisciplinaria, se incluyan instancias de bioética y derechos humanos, así como a personas del activismo político intersexual.
Asunto(s)
Trastornos del Desarrollo Sexual , Preescolar , Humanos , Niño , Brasil , Trastornos del Desarrollo Sexual/cirugía , Derechos Humanos , Justicia SocialRESUMEN
PURPOSE: Intersex is an umbrella term used to describe the diversity or differences in the characteristics of physical sexual development. Approximately 1.7% of the population are born intersex, and 1 in every 2000 babies at birth presents genital variation. Unfortunately, there is a lack of research on the health of intersex-identifying persons in Latin America. This study aimed to document experiences of discrimination and violence among self-identifying intersex individuals in Puerto Rico and to determine if there is a significant difference in the quality of life, psychological well-being, and social well-being between intersex-identifying and endosex individuals. METHODS: This was a quantitative method pilot study with a cross-sectional approach and exploratory comparative group design. An online survey was used, where a total of 12 self-identifying intersex adult participants were recruited, and 126 endosex adult participants served as a comparative group. RESULTS: The findings show that 83% of the participants reported experiences of discrimination and different types of violence due to their intersexuality. There was a significant difference between the intersex-identifying and endosex groups in psychological well-being, including in three of its dimensions (positives relations, autonomy, and environmental mastery). However, there were no significant differences between the groups in quality of life or social well-being. CONCLUSION: The findings of this study provide a preliminary understanding of the health disparities of intersex-identifying individuals in Puerto Rico and suggest the need for more profound research, especially the inclusion of other Caribbean and Hispanic countries. The findings also preliminarily imply the need for local and global interventions to reduce physical and mental health disparities and to improve health, quality of life, and well-being among intersex-identifying individuals.
Asunto(s)
Trastornos del Desarrollo Sexual , Calidad de Vida , Adulto , Femenino , Recién Nacido , Humanos , Puerto Rico/epidemiología , Proyectos Piloto , Conducta SexualRESUMEN
BACKGROUND: The suspicion of a disorder of sex development (DSD) often arises at birth, when the newborn presents with ambiguous genitalia, or even during prenatal ultrasound assessments. Less frequently, the aspect of the external genitalia is typically female or male, and the diagnosis of DSD may be delayed until a karyotype is performed for another health issue, or until pubertal age when a girl presents with absence of thelarche and/or menarche or a boy consults for gynaecomastia and/or small testes. SUMMARY: In this review, we provide a practical, updated approach to clinical and hormonal laboratory workup of the newborn, the child, and the adolescent with a suspected DSD. We focus on how to specifically address the diagnostic approach according to the age and presentation. KEY MESSAGE: We particularly highlight the importance of a detailed anatomic description of the external and internal genitalia, adequate imaging studies or surgical exploration, the assessment of reproductive hormone levels - especially testosterone, anti-Müllerian hormone, 17-hydroxyprogesterone, and gonadotropins - and karyotyping.
Asunto(s)
Trastornos del Desarrollo Sexual , Hipogonadismo , Recién Nacido , Humanos , Masculino , Niño , Femenino , Adolescente , Trastornos del Desarrollo Sexual/diagnóstico , Trastornos del Desarrollo Sexual/genética , Testosterona , Desarrollo Sexual , GenitalesRESUMEN
The false clown anemonefish (Amphiprion ocellaris) is a protandrous hermaphrodite with a distinctive reproductive behavior. This study elucidates the genetic mechanisms and timing of sex changes in captive-bred A. ocellaris by examining the expression of key genes involved in this process, specifically cyp19a1a and cyp19a1b. Gonadal histological analyses and gene expression studies were conducted on subadult fish paired for 0, 1, 2, 3, 4, 5, and 16 months. Our findings reveal that alterations in cyp19 gene expression coincide with a pairing period starting after 3 months. Both cyp19a1a and cyp19a1b expression levels were significantly elevated in paired females compared with their male counterparts and unpaired controls. Histological investigations demonstrated that sex conversion to females occurred during the 3-month pairing period. This study highlights the crucial role of cyp19a1a and cyp19a1b in the sex change process of A. ocellaris and indicates that a minimum of 5 months of pairing is necessary for completing the sex change.
O peixe-palhaço falso (Amphiprion ocellaris) é um hermafrodita protândrico com um comportamento reprodutivo distintivo. Este estudo esclarece os mecanismos genéticos e o período das mudanças de sexo em A. ocellaris criados em cativeiro, examinando a expressão de genes-chave envolvidos nesse processo, especificamente cyp19a1a e cyp19a1b. Análises histológicas gonadais e estudos de expressão gênica foram conduzidos em peixes subadultos emparelhados por 0, 1, 2, 3, 4, 5 e 16 meses. Os resultados revelam que alterações na expressão do gene cyp19 coincidem com um período de emparelhamento a partir de 3 meses. Os níveis de expressão de cyp19a1a e cyp19a1b foram significativamente elevados em fêmeas emparelhadas em comparação com seus homólogos masculinos e controles não-emparelhados. Investigações histológicas demonstraram que a conversão sexual para fêmeas ocorreu durante o período de emparelhamento de 3 meses. Este estudo destaca o papel crucial de cyp19a1a e cyp19a1b no processo de mudança de sexo de A. ocellaris e indica que um mínimo de 5 meses de emparelhamento é necessário para concluir a mudança de sexo.
Asunto(s)
Animales , Trastornos del Desarrollo Sexual/veterinaria , Aromatasa , Peces/genéticaRESUMEN
This study describes the occurrence of reproductive changes in a mullet (Mugil curema) from the Babibtonga Bay, Santa Catarina. Gross and microscopic findings indicated changes in the reproductive system that were characterized by the presence of both male and female gonads, nearing sexual maturity, which was compatible with the diagnosis of intersex. It was not possible to identify predisposing factors that may have contributed to the development of this condition. However, as this species of fish may have their reproductive development affected by anthropogenic influence, it is important to permanently monitor this kind of environment. Considering the number of fish belonging to this species that was examined (n=433), the estimated prevalence for intersexuality was 0.23% (confidence interval: 0.00 to 0.68%, with confidence level of 95%). The findings in this study support the diagnosis of intersexuality in M. curema from the Babitonga Bay, which is the first documented case of this condition in this species on the coast of Santa Catarina, Brazil.
Este estudo descreve a ocorrência de alteração reprodutiva em peixe da espécie Mugil curema, procedente da Baía da Babitonga, Santa Catarina. Macro e microscopicamente, foi identificada alteração no sistema reprodutivo, caracterizada pela presença de gônadas masculina e feminina, próximas da maturidade sexual, caracterizando um caso de intersexo. Não foi possível determinar os fatores que possam ter contribuído para o desenvolvimento dessa alteração reprodutiva, porém, como a espécie animal pode ter suas características de vida e reprodutiva influenciadas pela ação antrópica, é importante um estudo contínuo desses peixes nesse ambiente. Considerando o número de peixes dessa espécie que foram examinados (n=433), a prevalência estimada de intersexualidade foi de 0,23% (intervalo de confiança: 0,00 a 0,68%, com nível de confiança de 95%). Os achados deste estudo suportam o diagnóstico de intersexualidade em M. curema proveniente da Baía da Babitonga, sendo o primeiro caso documentado dessa condição nessa espécie na costa de Santa Catarina, Brasil.
Asunto(s)
Animales , Trastornos del Desarrollo Sexual/veterinaria , Smegmamorpha/anatomía & histología , Smegmamorpha/fisiología , Fenómenos Fisiológicos Reproductivos , Maduración SexualRESUMEN
Este artigo tem como objetivo produzir uma análise histórica sobre as intersecções entre Psicologia e sexualidade desviantes da norma no Brasil, de fins do século XIX a meados da década de 1980. Esta temporalidade foi escolhida por abarcar o surgimento das pesquisas científicas sobre sexualidade e desvios sexuais, a consolidação dos estudos psicológicos sobre a temática e o processo mais recente de despatologização da homossexualidade. Em termos teóricos e metodológicos, foram adotados os pressupostos da História Social da Psicologia e da historiografia das homossexualidades no Brasil. Desse modo, buscou-se compreender como as ideias, concepções e práticas psicológicas foram mudando ao longo do tempo, em conexão com as transformações socioculturais e políticas que ocorreram durante o século XX. Para isto, foram utilizadas fontes primárias e secundárias de pesquisa com vistas à produção de interpretações sobre as conexões entre as ideias, os atores e os eventos narrados. Argumenta-se, ao longo do artigo, que as ideias e práticas psicológicas estão intrinsecamente conectadas aos contextos socioculturais e políticos de seu tempo, sendo os movimentos dinâmicos e os conflitos presentes nesses contextos fatores determinantes para a sua constituição.(AU)
This article aims to produce a historical analysis of the intersections between Psychology and sexualities that deviate from the norm in Brazil, from the late 19th century to the mid-1980s. This period was chosen because it encompasses the emergence of scientific research on sexuality and sexual deviations, the consolidation of psychological studies on the subject and the most recent process of de-pathologization of homosexuality. Theoretically and methodologically, the assumptions of the Social History of Psychology and the historiography of homosexualities in Brazil were adopted. Therefore, we sought to understand how psychological ideas, conceptions and practices have changed over time, in connection with the sociocultural and political transformations that occurred throughout the 20th century. For this, primary and secondary sources of research were used to produce interpretations about the connections between the ideas, the actors and the narrated events. It is argued, throughout the article, that the psychological ideas and practices are intrinsically connected to the sociocultural and political contexts of their time, being the dynamic movements and conflicts present in these contexts determining factors for their constitution.(AU)
Este artículo tiene como objetivo realizar un análisis histórico de las intersecciones entre la Psicología y las sexualidades desviadas de la norma en Brasil desde finales del siglo XIX hasta mediados de la década de 1980. Esta temporalidad fue elegida por abarcar el surgimiento de las investigaciones científicas sobre sexualidad y desvíos sexuales, la consolidación de los estudios psicológicos sobre el tema y el más reciente proceso de despatologización de la homosexualidad. En el marco teórico y metodológico, se adoptaron los presupuestos de la Historia Social de la Psicología y de la historiografía de las homosexualidades en Brasil. De esta manera, se pretende comprender cómo las ideas, concepciones y prácticas psicológicas han cambiado a lo largo del tiempo, en conexión con las transformaciones socioculturales y políticas ocurridas durante el siglo XX. Para ello, se utilizaron las fuentes de investigación primarias y secundarias con miras a generar interpretaciones sobre las conexiones entre las ideas, los actores y los eventos narrados. Se argumenta, a lo largo de este artículo, que las ideas y las prácticas psicológicas están intrínsecamente conectadas a los contextos socioculturales y políticos de su tiempo, y los movimientos dinámicos y los conflictos presentes en estos contextos fueron los factores determinantes para su constitución.(AU)
Asunto(s)
Humanos , Masculino , Femenino , Brasil , Homosexualidad , Sexualidad , Historia , Orgasmo , Trastornos Parafílicos , Patología , Pedofilia , Desarrollo de la Personalidad , Trastornos de la Personalidad , Principio de Dolor-Placer , Psicología , Desarrollo Psicosexual , Política Pública , Racionalización , Religión y Sexo , Represión Psicológica , Sadismo , Sexo , Conducta Sexual , Trastornos del Desarrollo Sexual , Delitos Sexuales , Control Social Formal , Medio Social , Sociedades , Reacción de Prevención , Sublimación Psicológica , Tabú , Terapéutica , Travestismo , Inconsciente en Psicología , Voyeurismo , Terapia Conductista , Abuso Sexual Infantil , Actitud , Curación Homeopática , Carácter , Cristianismo , Competencia Mental , Acoso Sexual , Coito , Cuerpo Humano , Homosexualidad Femenina , Conflicto Psicológico , Participación de la Comunidad , Diversidad Cultural , Feminismo , Heterosexualidad , Manifestaciones Neuroconductuales , Disfunciones Sexuales Psicológicas , Crimen , Características Culturales , Cultura , Sexo Seguro , Terapias Mente-Cuerpo , Mecanismos de Defensa , Deshumanización , Características Humanas , Intención , Desarrollo Moral , Emociones , Agenda de Investigación en Salud , Foros de Discusión , Estudios Poblacionales en Salud Pública , Eugenesia , Exhibicionismo , Placer , Fetichismo Psiquiátrico , Salud Sexual , Homofobia , Racismo , Marginación Social , Medicalización , Personas Transgénero , Condición Moral , Minorías Sexuales y de Género , Activismo Político , Diversidad de Género , Asexualidad , Sexualidad Oculta , Asunción de la Sexualidad , Normas de Género , Ceguera de Género , Androcentrismo , Libertad , Teoría Freudiana , Respeto , Identidad de Género , Trauma Sexual , Hospicios , Funcionamiento Psicosocial , Rol de Género , Marco Interseccional , Estructura Familiar , Promoción de la Salud , Desarrollo Humano , Derechos Humanos , Identificación Psicológica , Anatomía , Trastornos Disruptivos, del Control de Impulso y de la Conducta , Incesto , Instinto , Introversión Psicológica , Libido , Masoquismo , Masturbación , Trastornos Mentales , Métodos , Moral , Principios Morales , Trastornos NeuróticosRESUMEN
Introducción: El bivalvo Anadara tuberculosa es un recurso pesquero y económico importante en el Pacífico Este Tropical. La proporción sexual varia a lo largo de su área de distribución, con casos de aparición de hermafroditismo, ocasional para algunas poblaciones, normal en otras. Estas características podrían ser una respuesta a presiones antropogénicas y ambientales. Objetivo: Evaluar la proporción sexual y el hermafroditismo en la especie en el Pacífico de Panamá. Métodos: Se analizó información reproductiva de A. tuberculosa generada entre 1994 y 2020 para el Golfo de Montijo, así como datos de 2017 para el manglar de David. Se aplicaron procedimientos macroscópicos, contrastados con histológicos y se generó un factor de corrección para ajustar la proporción sexual macroscópica, debido al efecto, sobre la proporción sexual, que ocasiona los organismos indeterminados. Resultados: Para el Golfo de Montijo, la histología indicó una proporción sexual hembra a macho de 1:1 hasta 3.2:1, entre 1994 y 2017, mientras que la macroscopía varió de 1.9:1 a 5.1:1 entre 2004 y 2020. Para el manglar de David, la histología indicó una proporción sexual de 3.7:1, y de 7.9:1 por macroscopía en el 2017. En ambas localidades, especímenes más grandes mostraron mayor variación en la proporción sexual, pese a la técnica implementada, así como hermafroditismo protándrico no casual en el 2017. Conclusiones: La aparición del hermafroditismo protándrico y los cambios en la proporción sexual indican que la población de A. tuberculosa, en ambas localidades, está respondiendo a presiones antropogénicas y ambientales.
Introduction: The bivalve Anadara tuberculosa is an important fishery in the Eastern Tropical Pacific. The sex ratio varies along its geographic range and there are cases of hermaphroditism, occasional in some populations, normal in others. These characteristics may be a response to anthropogenic and environmental pressure. Objective: To evaluate sex ratio and hermaphroditism of the species in the Panamanian Pacific. Methods: Data on reproductive features of A. tuberculosa generated between 1994 and 2020 for Gulf of Montijo, as well as 2017 data from mangroves of David was analyzed. Macroscopic diagnosis of individual sex is sensitive to the problem of indeterminate individuals, which in turn can skew the sex ratio analysis; therefore, the macroscopic method was compared with histological sections to generate a correction factor to adjust the macroscopically determined sex ratio. Results: For Montijo, histology indicated that the female to male sex ratio ranged from 1:1 to 3.2:1 between 1994 and 2017, while macroscopy indicated 1.9:1 to 5.1:1 between 2004 and 2020. For David, histology indicated a ratio of 3.7:1, and macroscopy 7.9:1. At both localities, larger specimens had more sex ratio variation, independently of the technique, and there was non-casual protandric hermaphroditism in 2017. Conclusion: The occurrence of protandric hermaphroditism and sex ratio changes suggest anthropogenic and environmental pressure in all populations.
Asunto(s)
Animales , Trastornos del Desarrollo Sexual , Bivalvos/crecimiento & desarrollo , Panamá , HumedalesRESUMEN
PURPOSE: Ovotesticular disorder of sexual development (DSD) is the rarest of DSDs with an incidence of 1:20000 (1). Management of vaginal pouches in such cases is warranted for symptomatic presentations and laparoscopy is considered the gold standard treatment (2). We report a rare case of robotic excision of a large symptomatic vaginal pouch in a 19-year-old boy with ovotesticular DSD. MATERIAL AND METHODS: A 19-year-old boy with ovotesticular DSD post hypospadias repair in early childhood presented with complaints of recurrent UTIs, ballooning of urethra during micturition and post-void dribbling. Ultrasound, voiding cystourethrogram (VCUG) and magnetic resonance imaging (MRI) were suggestive of a vaginal pouch. The patient underwent endo-evaluation followed by robot-assisted excision of the vaginal pouch. Endo-evaluation showed two orifices in the posterior urethra. The posterior orifice was leading into a blind-ending rudimentary uterus and the true urethra was lying anteriorly. The DaVinci Xi Robotic Surgical System was used and the entire pouch was dissected free of the surrounding tissues using monopolar scissors. The pouch was transected just a few millimetres from its junction with the urethra. The urethra was then closed with V-loc 4-0 suture. The patient was discharged on postoperative day 2 and the catheter was removed on day 21. RESULTS: Follow-up VCUG at 6 weeks did not show any residual pouch. There was no complaint of post-void dribbling or UTI at 30 months of follow-up. CONCLUSION: Robot-assisted laparoscopy should be considered as an alternative to laparoscopy for the primary treatment of a large symptomatic vaginal pouch.
Asunto(s)
Trastornos del Desarrollo Sexual , Endometriosis , Laparoscopía , Trastornos Ovotesticulares del Desarrollo Sexual , Procedimientos Quirúrgicos Robotizados , Robótica , Adulto , Preescolar , Endometriosis/cirugía , Femenino , Humanos , Laparoscopía/métodos , Masculino , Trastornos Ovotesticulares del Desarrollo Sexual/patología , Trastornos Ovotesticulares del Desarrollo Sexual/cirugía , Desarrollo Sexual , Vagina/patología , Vagina/cirugía , Adulto JovenRESUMEN
The aim of this study was to investigate physical activity (PA) policies in Brazil through current actions/programs to promote PA for children and adolescents. All 23 official websites of federal government agencies in Brazil [eighteen ministries, two secretariats (linked to ministries) and three ministry equivalent agencies] were visited. All programs/actions were analyzed according to indicators of the Global Matrix project from the Active Healthy Kids Global Alliance (AHKGA) and the Health Enhancing PA Policy Audit Tool, version 2, recommended by the World Health Organization. Furthermore, we used the analysis of "Strengths, Weaknesses, Opportunities and Threats" (SWOT) for the policies. Seventeen programs/actions included the promotion of PA for children and adolescents in Brazil, however, none of them had this as their main objective, and none were planned as a public policy action aimed at the promotion of PA. The overall score of the assessment instrument was 37 (out of a total of 100), which classifies Brazil as having a D+ grade according to AHKGA criteria. Brazil needs to define PA as a state policy so that the actions identified in this study can have positive effects on children and adolescents.
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Trastornos del Desarrollo Sexual , Conducta Sedentaria , Adolescente , Brasil , Niño , Ejercicio Físico , Política de Salud , Promoción de la Salud , HumanosRESUMEN
Background: Differences/disorders of sex development (DSD) are congenital conditions in which the development of chromosomal, gonadal, or anatomical sex is atypical. Objective: The aim of this study is to report the histological characteristics and immunoexpression patterns of gonadal parenchyma in patients with 46,XX testicular and ovotesticular DSD, with a focus on the detection of germ cell malignancies. Design: Inclusion criteria were SRY-negative 46,XX testicular and ovotesticular DSD with available samples from gonadal biopsy or gonadectomy for the review of histological findings. Gonadal histology was assessed on hematoxylin and eosin-stained sections and immunohistochemical analysis. Histopathological criteria from the last World Health Organization classification of urogenital tumors were used to identify undifferentiated gonadal tissue, gonadoblastoma, and dysgerminoma. Results: Median age at first histological evaluation of gonadal samples was 1.46 years (range: 0.16-16 years). Totally 15 patients were classified as ovotesticular and only 1 as testicular DSD. Most individuals had bilateral ovotestes (12/15). No histological alterations were found in the ovarian parenchyma, while signs of dysgenesis were seen in all cases of testicular parenchyma. In 4/15 ovotesticular DSD, a prepubertal biopsy failed to identify ovarian parenchyma. We detected early prepubertal preinvasive and invasive malignancies in this cohort (five patients had undifferentiated gonadal tissue, five gonadoblastoma, and one dysgerminoma). Conclusion: 46,XX disorders of gonadal development are historically considered at a low risk for germ cell cancer, and the need for assessment of gonadal histology has been questioned. The finding of early germ cell malignancies in our cohort brings awareness and needs further research.
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Trastornos del Desarrollo Sexual , Disgerminoma , Gonadoblastoma , Neoplasias de Células Germinales y Embrionarias , Neoplasias Ováricas , Trastornos Ovotesticulares del Desarrollo Sexual , Trastornos del Desarrollo Sexual/diagnóstico , Disgerminoma/genética , Femenino , Gonadoblastoma/genética , Gonadoblastoma/patología , Humanos , Masculino , Neoplasias de Células Germinales y Embrionarias/genética , Neoplasias Ováricas/patología , Trastornos Ovotesticulares del Desarrollo Sexual/diagnóstico , Trastornos Ovotesticulares del Desarrollo Sexual/genéticaRESUMEN
El síndrome de insensibilidad a los andrógenos (SIA), conocido también como un síndrome de feminización testicular, incluye un grupo variado de mutaciones que se relacionan con la disfunción de los receptores de andrógenos y la resistencia de los tejidos diana a la acción de las hormonas masculinas. Es causado por alteraciones genéticas localizadas en la secuencia de codificación de los receptores de andrógenos ligada al cromosoma Xq11 - 12, el gen que codifica al receptor de los andrógenos, de un individuo genéticamente masculino (46 XY). Las formas clínicas moderada, parcial o completa, dependen del grado de insensibilidad androgénica. Los avances en las causas genéticas han permitido que estas condiciones congénitas de desarrollo del sexo cromosómico, gonadal o anatómico atípico sean denominados trastornos de diferenciación sexual
Androgen insensitivity syndrome (AIS), also known as testicular feminization syndrome, includes a diverse group of mutations that are related to androgen receptor dysfunction and resistance of target tissues to the action of hormones masculine. It is caused by localized genetic alterations in the androgen receptor coding sequence linked to chromosome Xq11-12, the gene encoding the androgen receptor, of a genetically male (46 XY) individual. Moderate, partial, or complete clinical forms depend on the degree of androgen insensitivity. Advances in genetic causes have allowed these congenital conditions of atypical chromosomal, gonadal, or anatomical sex development to be called disorders of sexual differentiation
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Síndrome de Resistencia Androgénica , Andrógenos , Trastornos del Desarrollo Sexual , Síndrome , Cromosomas , El Salvador , HormonasRESUMEN
BACKGROUND: The Congenital Adrenal Hyperplasia due to 21 hydroxylase deficiency is the most common cause of genital ambiguity in persons with XX sexual chromosomes. Genital ambiguity among persons with XY sexual chromosomes comprises diverse and rare etiologies. The deficiency of 17-beta-hydroxysteroid dehydrogenase type 3 enzyme (HSD17B3) is a rare autosomal recessive disorder due to functionally altered variants of the HSD17B3 gene. In this disorder/difference of sex development, the conversion of androstenedione into testosterone is impaired. The appearance of external genitalia of 46,XY individuals varies from typically male to almost female. CASE PRESENTATION: We report on a child presenting severe ambiguous genitalia. Due to access constraints, specialized care did not start until the child was 10 months old. Parents are consanguineous and were born in an area of high isonymy that is a cluster for rare recessive diseases. A new homozygous missense variant c.785G > T was found in exon 10 of the HSD17B3 gene. CONCLUSIONS: Researchers-clinicians and researchers-researchers collaborative efforts to elucidate the genetic basis of this disease were critical since this etiologic investigation is not available through the public health system. This case exemplifies the families' pilgrimage in cases of genital ambiguity due to a rare genetic condition. Recognizing the etiology was the baseline to provide information on prognosis and treatment options, and to shelter family and child doubts and hopes in order to better support their decisions.
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Hiperplasia Suprarrenal Congénita , Trastornos del Desarrollo Sexual , Hiperplasia Suprarrenal Congénita/complicaciones , Hiperplasia Suprarrenal Congénita/diagnóstico , Hiperplasia Suprarrenal Congénita/genética , Niño , Consanguinidad , Exones , Femenino , Humanos , Lactante , Masculino , Mutación MissenseRESUMEN
INTRODUCTION: NR5A1 is an essential transcription factor that regulates several target genes involved in reproduction and endocrine function. Pathogenic variants in this gene are responsible for a wide spectrum of disorders/differences of sex development (DSD). METHODS: The molecular study involved Sanger sequencing, in vitro assays, and whole exome sequencing (WES). RESULTS: Four variants were identified within the NR5A1 non-coding region in 3 patients with 46,XY DSD. In vitro analyses showed that promoter activity was affected in all cases. WES revealed variants in SRA1, WWOX, and WDR11 genes. DISCUSSION/CONCLUSION: Evaluation of clinical and phenotypic significance of variants located in a non-coding region of a gene can be complex, and little is known regarding their association with DSD. Nevertheless, based on the important region for interaction with cofactors essential to promote appropriated sex development and on our in vitro results, it is feasible to say that an impact on gene expression can be expected and that this may be correlated with the DSD pathophysiology presented in our patients. Considering the number of cases that remain elusive after screening for the well-known DSD related genes, we emphasize the importance of a careful molecular analysis of NR5A1 non-coding region which is commonly neglected and might explain some idiopathic DSD cases.
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Trastorno del Desarrollo Sexual 46,XY , Trastornos del Desarrollo Sexual , Humanos , Mutación , Trastorno del Desarrollo Sexual 46,XY/genética , Fenotipo , Factor Esteroidogénico 1/genética , Factor Esteroidogénico 1/metabolismo , Desarrollo Sexual/genética , Trastornos del Desarrollo Sexual/genéticaRESUMEN
Sex change (sequential hermaphroditism) has evolved repeatedly in teleost fishes when demographic conditions mediate fundamentally different sex-specific returns for individuals of particular age and size. We investigated the conditions for potential sex change in an annual killifish (Millerichthys robustus) from temporary pools in Mexico. In natural populations, we detected adults with intersex colouration and gonads. Therefore, we experimentally tested whether this apparent sex change can be generated by manipulation of ecological and social conditions, rather than being caused by environmental disturbance. We demonstrated functional protogynous (female-to-male) sex change in 60% replicates, when groups of five females interacted and had a visual and olfactory cue of a male. Only one female changed sex in any given replicate. The sex change never occurred in isolated females. Protandrous (male-to-female) hermaphroditism was not recorded. We characterized gradual changes in behaviour, colouration and gonad structure during the sex change process. The first behavioural signs of sex change were observed after 23 days. Secondary males spawned successfully after 75 days. We discuss the adaptive potential of sex change in short-lived annual fishes through the seasonal decline of males, and during colonization of new habitats. This is the first observation of functional hermaphroditism in an annual killifish.