Pseudo-hermafroditismo em cadela da raça buldogue-francês / Pseudohermaphroditism in a female French Bulldog / Pseudohermafroditismo en una perra Bulldog Francés

Pseudo-hermafroditismo é uma anomalia sexual rara em cães, em que existem caracteristicas masculinas e femininas em um mesmo individuo; geralmente o animal apresenta genitalia externa ambigua e gônadas masculinas ou femininas. O presente relato é sobre um animal de 5 meses de idade, da raça buldogue-francês, cuja queixa principal foi a presença de uma estrutura em região interna de genitália com evolução aproximada de 2 meses. O exame clinico constatou que a paciente mas com uma estrutura hipertrofiada no interior similar a um clitóris, além de um OSSO apresentava caracteristica fenotipica de fêmea, com vagina sem alterações aparentes, peniano. A radiografia abdominal lateral direita revelou a presença de provável osso peniano atrofiado, localizado dentro da vagina. O exame ultrassonográfico evidenciou a presença de duas estruturas ovaladas, grosseiras e hipoecogênicas em região inguinal (tecido subcutâneo), sugerindo testiculos ectopicos; não foram observados os ovários e o útero. Durante a laparotomia observou-se a ausência de ovários e a presença de útero, além de testiculos no tecido subcutâneo.

Pseudohermaphroditism is a sexual anomaly, rare in dogs, in which the individual has both male and female characteristics; normally ambiguous external genitalia and male or female gonads. This report concerns a 5-month-old female French Bulldog, where the principal concern was the presence of a structure in the internal region of the genitalia with evolution of approximately 2 months. Upon clinical examination, it was found that the patient had a characteristically female phenotype and a vagina with no apparent changes, despite the presence of a hypertrophied structure inside, similar to a clitoris and a probable penile bone. A right lateral abdominal radiography revealed the presence of a probable atrophied penile bone located inside the vulva. An ultrasound examination showed the presence of two oval, coarse and hypoechogenic structures in the inguinal (subcutaneous) region, suggesting ectopic testicles; ovaries and uterus were not observed. However, during laparotomy the absence of ovaries and the presence of uterus and testicles in the subcutaneous tissue were observed.

El pseudohermafroditismo representa una anomalia congénita rara en perros, en la cual se observan caracteristicas de macho y de hembra en un individuo; generalmente el animal presenta genitales externos ambiguos y gónadas masculinas o femeninas. El presente relato describe este cuadro en un Bulldog francés de 5 meses que llegó a consulta porque podia observarse una estructura diferente en vulva con evolución aproximada de 2 meses. Durante la consulta, la paciente presentaba características fenotipicas de hembra, con una vagina normal y una estructura hipertrofiada en su interior, similar a un clitoris, y otra parecida con un hueso peneano. La radiografia abdominal lateral derecha mostró la presencia de un posible hueso peneano atrofiado que se localizaba cercano a la vagina. La ecografia permitió localizar dos estructuras ovaladas, grandes e hipecogénicas en la región inguinal (subcutáneo) similares a los testiculos (ectopia testicular); no se observaron ovarios y útero. Durante la laparatomia se observo ausencia de ovarios, presencia de útero y la localización de ambos testículos en el tejido subcutáneo.

Pseudo-hermafroditismo em cadela da raça buldogue-francês / Pseudohermaphroditism in a female French Bulldog / Pseudohermafroditismo en una perra Bulldog Francés

Pseudo-hermafroditismo é uma anomalia sexual rara em cães, em que existem caracteristicas masculinas e femininas em um mesmo individuo; geralmente o animal apresenta genitalia externa ambigua e gônadas masculinas ou femininas. O presente relato é sobre um animal de 5 meses de idade, da raça buldogue-francês, cuja queixa principal foi a presença de uma estrutura em região interna de genitália com evolução aproximada de 2 meses. O exame clinico constatou que a paciente mas com uma estrutura hipertrofiada no interior similar a um clitóris, além de um OSSO apresentava caracteristica fenotipica de fêmea, com vagina sem alterações aparentes, peniano. A radiografia abdominal lateral direita revelou a presença de provável osso peniano atrofiado, localizado dentro da vagina. O exame ultrassonográfico evidenciou a presença de duas estruturas ovaladas, grosseiras e hipoecogênicas em região inguinal (tecido subcutâneo), sugerindo testiculos ectopicos; não foram observados os ovários e o útero. Durante a laparotomia observou-se a ausência de ovários e a presença de útero, além de testiculos no tecido subcutâneo.(AU)

Pseudohermaphroditism is a sexual anomaly, rare in dogs, in which the individual has both male and female characteristics; normally ambiguous external genitalia and male or female gonads. This report concerns a 5-month-old female French Bulldog, where the principal concern was the presence of a structure in the internal region of the genitalia with evolution of approximately 2 months. Upon clinical examination, it was found that the patient had a characteristically female phenotype and a vagina with no apparent changes, despite the presence of a hypertrophied structure inside, similar to a clitoris and a probable penile bone. A right lateral abdominal radiography revealed the presence of a probable atrophied penile bone located inside the vulva. An ultrasound examination showed the presence of two oval, coarse and hypoechogenic structures in the inguinal (subcutaneous) region, suggesting ectopic testicles; ovaries and uterus were not observed. However, during laparotomy the absence of ovaries and the presence of uterus and testicles in the subcutaneous tissue were observed.(AU)

El pseudohermafroditismo representa una anomalia congénita rara en perros, en la cual se observan caracteristicas de macho y de hembra en un individuo; generalmente el animal presenta genitales externos ambiguos y gónadas masculinas o femeninas. El presente relato describe este cuadro en un Bulldog francés de 5 meses que llegó a consulta porque podia observarse una estructura diferente en vulva con evolución aproximada de 2 meses. Durante la consulta, la paciente presentaba características fenotipicas de hembra, con una vagina normal y una estructura hipertrofiada en su interior, similar a un clitoris, y otra parecida con un hueso peneano. La radiografia abdominal lateral derecha mostró la presencia de un posible hueso peneano atrofiado que se localizaba cercano a la vagina. La ecografia permitió localizar dos estructuras ovaladas, grandes e hipecogénicas en la región inguinal (subcutáneo) similares a los testiculos (ectopia testicular); no se observaron ovarios y útero. Durante la laparatomia se observo ausencia de ovarios, presencia de útero y la localización de ambos testículos en el tejido subcutáneo.(AU)

Um caracol, dois sexos: implicações biológicas do hermafroditismo em gastrópodes terrestres

Desafiando a antiga crença de que hermafroditas são menos complexos dos que os animais de sexos separados, os resultados de estudos recentes sobre moluscos terrestres têm revelado a presença de comportamentos e estratégias tão ou mais elaboradas que aquelas exibidas pelas espécies gonocóricas (que apresentam indivíduos machos e fêmeas). O estudo do comportamento e das estratégias reprodutivas destes animais contribui para o entendimento da evolução e aspectos funcionais do hermafroditismo.

Um caracol, dois sexos: implicações biológicas do hermafroditismo em gastrópodes terrestres

Desafiando a antiga crença de que hermafroditas são menos complexos dos que os animais de sexos separados, os resultados de estudos recentes sobre moluscos terrestres têm revelado a presença de comportamentos e estratégias tão ou mais elaboradas que aquelas exibidas pelas espécies gonocóricas (que apresentam indivíduos machos e fêmeas). O estudo do comportamento e das estratégias reprodutivas destes animais contribui para o entendimento da evolução e aspectos funcionais do hermafroditismo.(AU)

Hermafroditismo em gato – Relato de caso / Hermaphroditism in cat - Case Report

The diagnosis of hermaphroditism or pseudo-hermafrditismo should not be based on an inspection ofchromosomes, gonads and the phenotypic appearance of the reproductive organs, and laparotomy. It was theVeterinary Hospital of UEMA cat, SRD. Physical examination Contacted That cat had female structures such asthe vagina and based on the pet's history this testicles also had. After castration, the animals can get pregnantand after the birth of the first puppy, the cat underwent surgery to remove the other dogs que were still in thewomb. Even during surgery ovariohysterectomy was performed for removal of the ovaries and uterus. The caseHermaphroditism is true because, according to the authors, the hermaphroditic animals should have copies ofboth gonads However, the genetic fri is female.

Hermafroditismo em gato Relato de caso / Hermaphroditism in cat - Case Report

The diagnosis of hermaphroditism or pseudo-hermafrditismo should not be based on an inspection ofchromosomes, gonads and the phenotypic appearance of the reproductive organs, and laparotomy. It was theVeterinary Hospital of UEMA cat, SRD. Physical examination Contacted That cat had female structures such asthe vagina and based on the pet's history this testicles also had. After castration, the animals can get pregnantand after the birth of the first puppy, the cat underwent surgery to remove the other dogs que were still in thewomb. Even during surgery ovariohysterectomy was performed for removal of the ovaries and uterus. The caseHermaphroditism is true because, according to the authors, the hermaphroditic animals should have copies ofboth gonads However, the genetic fri is female.(AU)

Management framework paradigms for disorders of sex development

Until 2005, questions regarding medical treatment and diagnostic information on Disorders of Sex Development (DSD) were not systematically discussed with both the patients and their families; however, the way these patients are currently treated have been changing with time. Interventional changes in the clinical-psychotherapeutic-surgical areas of DSD determine not only different medical recommendations but also help to place the patient and the family into the decisional process of therapy. We must consider two paradigmatic periods that have influenced and transformed the clinical management framework of patients with DSD: a) The "Money era" (1955), which emphasized the role of the gonads as the diagnostic criterion, having the environment as determinant of the sex identity; and b) The Chicago Consensus (2005) phase, in which the role of genetics and molecular biology was critical for an early identification, as well as in building a proper sex identity, emphasizing ethical questions and the "stigma culture". In addition, recent data have focused on the importance of interdisciplinarity and statements on questions concerning Human Rights as key factors in treatment decision making. Despite each of these management models being able to determine specific directions and recommendations regarding the clinical handling of these patients, we verify that a composite of these several models is the clinical routine nowadays. In the present paper, we discuss these several paradigms, and pinpoint clinical differences and their unfolding regarding management of DSD patients and their families.

Management framework paradigms for disorders of sex development.

Until 2005, questions regarding medical treatment and diagnostic information on Disorders of Sex Development (DSD) were not systematically discussed with both the patients and their families; however, the way these patients are currently treated have been changing with time. Interventional changes in the clinical-psychotherapeutic-surgical areas of DSD determine not only different medical recommendations but also help to place the patient and the family into the decisional process of therapy. We must consider two paradigmatic periods that have influenced and transformed the clinical management framework of patients with DSD: a) The "Money era" (1955), which emphasized the role of the gonads as the diagnostic criterion, having the environment as determinant of the sex identity; and b) The Chicago Consensus (2005) phase, in which the role of genetics and molecular biology was critical for an early identification, as well as in building a proper sex identity, emphasizing ethical questions and the "stigma culture". In addition, recent data have focused on the importance of interdisciplinarity and statements on questions concerning Human Rights as key factors in treatment decision making. Despite each of these management models being able to determine specific directions and recommendations regarding the clinical handling of these patients, we verify that a composite of these several models is the clinical routine nowadays. In the present paper, we discuss these several paradigms, and pinpoint clinical differences and their unfolding regarding management of DSD patients and their families.

Multifunctional role of steroidogenic factor 1 and disorders of sex development / Papel multifuncional do fator esteroidogênico 1 e as doenças do desenvolvimento sexual

Disorders of sex development (DSD) involve several conditions that result from abnormalities during gonadal determination and differentiation. Some of these disorders may manifest at birth by ambiguous genitalia; others are diagnosed only at puberty, by the delayed onset of secondary sexual characteristics. Sex determination and differentiation in humans are processes that involve the interaction of several genes such as WT1, NR5A1, NR0B1, SOX9, among others, in the testicular pathway, and WNT4, DAX1, FOXL2 and RSPO1, in the ovarian pathway. One of the major proteins in mammalian gonadal differentiation is the steroidogenic nuclear receptor factor 1 (SF1). This review will cover some of the most recent data on SF1 functional roles and findings related to mutations in its coding gene, NR5A1.

Os distúrbios do desenvolvimento sexual (DDS) envolvem várias condições que resultam de anormalidades que podem acontecer tanto na determinação como durante a diferenciação gonadal. Algumas dessas doenças podem se manifestar ao nascimento principalmente por genitália ambígua, outras são diagnosticadas apenas na puberdade por atraso no aparecimento de características sexuais secundárias. A determinação e a diferenciação do sexo em seres humanos são processos que envolvem interações entre vários genes nas vias testicular, tais como NR5A1, NR0B1, WT1, SOX9, entre outros, e ovariana, tais como WNT4, DAX1, FOXL2 e RSPO1. Uma das principais proteínas na diferenciação gonadal de mamíferos é o fator esteroidogênico e receptor nuclear 1 (SF1). Esta revisão cobrirá alguns dos dados mais recentes sobre os papéis funcionais de SF1 e as últimas descobertas relacionadas a mutações em seu gene, NR5A1.

Multifunctional role of steroidogenic factor 1 and disorders of sex development.

Disorders of sex development (DSD) involve several conditions that result from abnormalities during gonadal determination and differentiation. Some of these disorders may manifest at birth by ambiguous genitalia; others are diagnosed only at puberty, by the delayed onset of secondary sexual characteristics. Sex determination and differentiation in humans are processes that involve the interaction of several genes such as WT1, NR5A1, NR0B1, SOX9, among others, in the testicular pathway, and WNT4, DAX1, FOXL2 and RSPO1, in the ovarian pathway. One of the major proteins in mammalian gonadal differentiation is the steroidogenic nuclear receptor factor 1 (SF1). This review will cover some of the most recent data on SF1 functional roles and findings related to mutations in its coding gene, NR5A1.

Male gender identity in an XX individual with congenital adrenal hyperplasia.

INTRODUCTION: In spite of significant changes in the management policies of intersexuality, clinical evidence show that not all pubertal or adult individuals live according to the assigned sex during infancy. AIM: The purpose of this study was to analyze the clinical management of an individual diagnosed as a female pseudohermaphrodite with congenital adrenal hyperplasia (CAH) simple virilizing form four decades ago but who currently lives as a monogamous heterosexual male. METHODS: We studied the clinical files spanning from 1965 to 1991 of an intersex individual. In addition, we conducted a magnetic resonance imaging (MRI) study of the abdominoplevic cavity and a series of interviews using the oral history method. MAIN OUTCOME MEASURES: Our analysis is based on the clinical evidence that led to the CAH diagnosis in the 1960s in light of recent clinical testing to confirm such diagnosis. RESULTS: Analysis of reported values for 17-ketosteroids, 17-hydroxycorticosteroids, from 24-hour urine samples during an 8-year period showed poor adrenal suppression in spite of adherence to treatment. A recent MRI study confirmed the presence of hyperplastic adrenal glands as well as the presence of a prepubertal uterus. Semistructured interviews with the individual confirmed a life history consistent with a male gender identity. CONCLUSIONS: Although the American Academy of Pediatrics recommends that XX intersex individuals with CAH should be assigned to the female sex, this practice harms some individuals as they may self-identify as males. In the absence of comorbid psychiatric factors, the discrepancy between infant sex assignment and gender identity later in life underlines the need for a reexamination of current standards of care for individuals diagnosed with CAH.

[New definitions and classifications of the intersexual states: in which the Chicago Consensus has contributed to the state of the art?]. / As novas definições e classificações dos estados intersexuais: o que o Consenso de Chicago contribui para o estado da arte?

Disorders of sex development have posed a tremendous challenge not only in the diagnosis but also in the treatment, placing the patient, the family members, and the health team in the difficult task of attributing the best sex of rearing for that specific patient. A confusing and stigmatizing nomenclature has been employed and the Chicago Consensus tried to minimize the discomfort with modifications of the current terminology. The authors perform a critical analysis of the Consensus, raising the question that the new terminology does not solve the problems and persist being stigmatizing to the patient and to the family. First of all, the inclusion of the karyotype in the name of the disease holds the false premise that the patients do not know the meaning of a 46,XY or a 46,XX karyotype. A child raised in the female sex will not understand that her disease holds a "male" karyotype in its name (46,XY DSD). The substitution of ovotesticular DSD for true hermaphroditism maintains the stigma of the name since ovotesticular is easily perceived as ovarian and testicular tissues. If, on one hand, the recognition of using terms like intersex and hermaphroditism are stigmatizing, on the other hand, we need terms that are really neutral to not create problems of sexual identification. One point in which there is consensus is that the change of the term "intersex" for "disorder of sex development" is highly desirable and eliminates the idea of an "intermediate sex".

As novas definições e classificações dos estados intersexuais: o que o Consenso de Chicago contribui para o estado da arte? / New definitions and classifications of the intersexual states: in which the Chicago Consensus has contributed to the state of the art?

As anomalias da diferenciação sexual têm-se constituído em um formidável desafio quanto ao diagnóstico e à conduta, colocando o paciente, os familiares e os profissionais da equipe de saúde na difícil situação de definir a melhor opção quanto ao gênero de criação. Uma terminologia confusa e estigmatizante tem sido adotada e, nesse sentido, o Consenso de Chicago propõe várias modificações no sentido de minimizar os desconfortos graças a uma terminologia que nem sempre auxilia na solução de problemas. Os autores fazem uma análise crítica da classificação sugerida pelo Consenso, levantando a questão de que, na nova classificação, também não se resolvem certos problemas terminológicos e continua a se criar algum grau de estigmatização. Em primeiro lugar, a sugestão de se incluir o cariótipo no nome da doença supõe, erroneamente, que os pacientes não tenham conhecimento do que significa ser 46,XY ou 46,XX. Uma criança criada no sexo feminino com uma anomalia da diferenciação sexual (ADS) 46,XY não vai entender porque está no sexo feminino se seu cariótipo é "masculino". A substituição do termo hermafroditismo verdadeiro por ADS ovotesticular está longe de resolver o problema de estigmatização causado por "hermafroditismo". O termo ovotesticular é claramente entendido como uma fusão entre ovário e testículo e não será aceito com "naturalidade". Se, por um lado, é muito satisfatório que a questão da nomenclatura seja discutida, por outro lado devemos escolher termos alternativos que sejam realmente neutros e não tragam, em si, a conotação de um sexo que pode não condizer com o escolhido para aquele paciente em particular. Um ponto em que todos concordamos é que a substituição de intersexo por anomalia da diferenciação sexual (ADS) ou, disorder of sex development (DSD), na língua inglesa, cai muito melhor e não dá a conotação de um "sexo intermediário" como o nome antigo proporcionava.

Disorders of sex development have posed a tremendous challenge not only in the diagnosis but also in the treatment, placing the patient, the family members, and the health team in the difficult task of attributing the best sex of rearing for that specific patient. A confusing and stigmatizing nomenclature has been employed and the Chicago Consensus tried to minimize the discomfort with modifications of the current terminology. The authors perform a critical analysis of the Consensus, raising the question that the new terminology does not solve the problems and persist being stigmatizing to the patient and to the family. First of all, the inclusion of the karyotype in the name of the disease holds the false premise that the patients do not know the meaning of a 46,XY or a 46,XX karyotype. A child raised in the female sex will not understand that her disease holds a "male" karyotype in its name (46,XY DSD). The substitution of ovotesticular DSD for true hermaphroditism maintains the stigma of the name since ovotesticular is easily perceived as ovarian and testicular tissues. If, on one hand, the recognition of using terms like intersex and hermaphroditism are stigmatizing, on the other hand, we need terms that are really neutral to not create problems of sexual identification. One point in which there is consensus is that the change of the term "intersex" for "disorder of sex development" is highly desirable and eliminates the idea of an "intermediate sex".

Idiopathic male pseudohermaphroditism is associated with prenatal growth retardation.

UNLABELLED: About 50% of intersex cases are due to male pseudohermaphroditism, and of these cases, 50% are not clarified aetiologically. The association of idiopathic male pseudohermaphroditism and prenatal growth retardation has been recently reported. The aim of this study was to verify whether there was a difference in weight and/or length at birth between idiopathic and non-idiopathic male pseudohermaphroditism patients. A total of 70 patients with male pseudohermaphroditism were recruited; 35 non-idiopathic and 35 idiopathic. Birth weight and length were converted to z scores, and the severity of genital ambiguity was classified according to Prader grades: less virilized (Prader 1 to 3) and more virilized (Prader 4 or 5). Data were analysed using a Mann-Whitney test, odds ratio and logistic regression analysis. Birth weight (P = 0.028) and length (P = 0.01) z scores were lower in the idiopathic male pseudohermaphroditism group compared to the non-idiopathic group and were also significantly decreased among the less virilized patients, both in the sample as a whole (weight z score, P = 0.002; length z score, P = 0.0008) and in the group of idiopathic patients (weight z score, P = 0.013; length z score, P = 0.007). According to logistic regression analysis, only birth length z score significantly predicted the severity of the genital ambiguity in patients with idiopathic male pseudohermaphroditism ( P = 0.0007). CONCLUSION: There is an association between prenatal growth retardation and male pseudohermaphroditism which may be due to genetic factors not clarified yet or to environmental factors which act early in gestation.

Desórdenes de la diferenciación sexual, y pubertad retardada

Ante una persona cuya edad cronológica no parece corresponder a su maduracion sexual o en la que se encuentran caracteres sexuales incongruentes con el sexo en el que fue clasificado al nacimiento, es indispensable proceder a estudio completo y cuidadoso, que incluya valoración de las hormonas gonadales y de los esteroides suprarenales, para identificar y tratar a tiempo los posibles desórdenes de la diferenciación sexual (virilización en las niñas o feminización en los varones) o retardo de la pubertad