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1.
Alerta (San Salvador) ; 5(2): 112-117, jul. 22, 2022. ilus
Article in Spanish | LILACS, BISSAL | ID: biblio-1379956

ABSTRACT

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


Subject(s)
Androgen-Insensitivity Syndrome , Androgens , Disorders of Sex Development , Syndrome , Chromosomes , El Salvador , Hormones
2.
Säo Paulo med. j ; 140(2): 163-170, Jan.-Feb. 2022. tab
Article in English | LILACS | ID: biblio-1366043

ABSTRACT

Abstract BACKGROUND: Because normal male sexual differentiation is more complex than normal female sexual differentiation, there are more cases of disorders of sex development (DSDs) with 46,XY karyotype that have unclear etiology. However, Leydig and Sertoli cell markers are rarely used in distinguishing such individuals. OBJECTIVES: To evaluate the function of Leydig and Sertoli cells in individuals with genital ambiguity, 46,XY karyotype, palpable gonads and normal testosterone secretion. STUDY DESIGN AND SETTING: Case-control study with 77 patients, including eight with partial androgen insensitivity syndrome, eight with 5α-reductase deficiency type 2 (5ARD2) and 19 with idiopathic 46,XY DSD, and 42 healthy controls, from the Interdisciplinary Study Group for Sex Determination and Differentiation (GIEDDS), at the State University of Campinas (UNICAMP), Campinas, Brazil. METHODS: Baseline levels of gonadotropins, anti-Müllerian hormone (AMH), inhibin B, insulin-like 3 (INSL3), testosterone and dihydrotestosterone in cases, and AMH, inhibin B, and INSL3 levels in controls, were assessed. RESULTS: There was no significant difference in age between cases and controls (P = 0.595). AMH and inhibin B levels were significantly lower in cases than in controls (P = 0.031 and P < 0.001, respectively). INSL3 levels were significantly higher in cases than in controls (P = 0.003). Inhibin B levels were lower in 5ARD2 patients (P = 0.045) and idiopathic patients (P = 0.001), in separate comparisons with the controls. CONCLUSION: According to our findings, we can speculate that inhibin B levels may be used to differentiate among DSD cases.


Subject(s)
Humans , Male , Female , Sertoli Cells/metabolism , Disorders of Sex Development , Testosterone/metabolism , Case-Control Studies , Karyotype , Gonads/metabolism
4.
Rev. Ciênc. Méd. Biol. (Impr.) ; 20(2): 341-343, set 29, 2021. fig
Article in English | LILACS | ID: biblio-1354651

ABSTRACT

Introduction: Ovotesticular disorder of sex development is a rare condition characterized by the concomitant presence of testicular and ovarian tissue, and usually presents genital ambiguity. They are chromosomally heterogeneous, and cytogenetic analyses is relevant. Objective: to report a patient from Manaus, Amazonas state, Brazil, with ovotesticular disorder of sex differentiation 46,XX and SRY-negative. Case report: patient aged 19 years, first child of non-consanguineous parents, diagnosed at birth with genital ambiguity and, without correct diagnosis, was registered a male sex. The patient underwent surgery to correct bilateral cryptorchidism, orchiopexy and colpectomy. During puberty, he developed female and male sexual characteristics. Investigation at this time revealed: laboratory (normal total testosterone and estradiol as high follicle-stimulating hormone and luteinizing hormone, histopathological (right gonad, ovarian follicles and left gonad, atrophic testicles), karyotype (46, XX) and molecular (SRY-negative). Diagnosis of ovotesticular disorder of sex development was established. The patient chose to remain male and underwent bilateral mastectomy, vaginal colpectomy and bilateral gonadectomy. Currently, the patient receives hormonal replacement therapy, followup with a multi-professional approach and awaits masculinizing genitoplasty. Discussion: For OT-DSD individuals with 46, XX, the female sex is suggested as the best sex of rearing option. Unlike the reported cases, the patient chose the male sex, since the sex at registration of birth was important in his choice. Conclusion: Cytogenetic and molecular analyses allowed us to assist in the etiological diagnosis of the patient with OT-DSD. However, molecular analyses are necessary to elucidate the genes involved in the sexual determination of this patient.


Introdução: distúrbio da diferenciação do sexo ovotesticular é uma condição rara com presença concomitante de tecido testicular e ovariano, geralmente com ambiguidade genital. Os pacientes são cromossomicamente heterogêneos e a análise citogenética é fundamental. Objetivo: relatar o caso de um paciente do município de Manaus, Amazonas, portador de distúrbio da diferenciação do sexo ovotesticular 46, XX e SRY-negativo. Caso clínico: paciente de 19 anos, primeiro filho de pais não consanguíneos, que ao nascimento foi diagnosticado com ambiguidade genital, contudo, sem diagnóstico correto, foi registrado como sendo do sexo masculino. Foi submetido a cirurgias para correção da criptoquirdia bilateral, orquidopexia e colpectomia vaginal. Na puberdade, desenvolveu características sexuais feminina e masculina. Investigação diagnóstica mostrou: exames hormonais (testosterona total e estradiol normais enquanto hormônio folículo-estimulante e hormônio luteinizante elevados), histopatológicos (gônada direita, folículos ovarianos e gônadas esquerda, testículos atróficos), cariótipo (46, XX) e molecular (SRY-negativo). O diagnóstico de distúrbio da diferenciação do sexo ovotesticular foi estabelecido. O paciente optou por permanecer no sexo masculino e submeteuse à mastectomia bilateral, colpectomia vaginal e gonadectomia bilateral. Atualmente faz reposição hormonal, acompanhamento com abordagem multiprofissional e aguarda pela genitoplastia masculinizante. Discussão: aos indivíduos DDS-OT com 46, XX é sugerido como a melhor opção de sexo, o feminino. Diferentemente dos casos relatados, o paciente optou por permanecer no sexo masculino, visto que o registro de nascimento foi importante para a sua escolha. Conclusão: análises citogenéticas e moleculares permitiu auxiliar no diagnóstico etiológico do paciente com DDS-OT, contudo, análises moleculares são necessárias para elucidação de genes envolvidos na determinação sexual desse paciente.


Subject(s)
Humans , Male , Female , Adult , Disorders of Sex Development , Chromosomes , Case Reports , Castration , Mastectomy
5.
Rev. chil. endocrinol. diabetes ; 14(1): 21-28, 2021. ilus, tab
Article in Spanish | LILACS | ID: biblio-1146468

ABSTRACT

El síndrome de insensibilidad a andrógenos (AIS en la sigla inglesa) es una entidad muy poco frecuente en endocrinología. Se caracteriza por la mutación del receptor de andrógenos de magnitud variable, por medio del cual individuos 46,XY no se virilizan normalmente, a pesar de conservar sus testículos y tener concentraciones de testosterona en rango masculino. El cuadro clínico es variable y depende la profundidad de la alteración del receptor. En un extremo, hay casos de insensibilidad androgénica completa (CAIS) con fenotipo femenino. En el otro extremo hay insensibilidad parcial (PAIS) que se extiende desde el fenotipo femenino, con o sin ambigüedad genital, hasta los casos de hombres infértiles o con subvirilización, que presentan insensibilidad androgénica más leve. En los fenotipos femeninos, los testículos suelen estar en posición ectópica y aquellos ubicados dentro del abdomen tienen riesgo de malignizarse, por lo que suelen extirparse. Estos son los casos de más difícil manejo, pues aparte de la necesidad de gonadectomía seguida de terapia hormonal femenina, existe una vagina estrecha y en fondo de saco ciego y que suele requerir corrección quirúrgica para permitir la actividad sexual. En este trabajo presentamos 5 casos de AIS vistos recientemente en 2 centros clínicos de Santiago y que ilustran la heterogeneidad de presentación. Además, hacemos una revisión actualizada de los criterios diagnósticos, los tratamientos más adecuados y el manejo global de esta condición.


The Androgen insensitivity syndrome (AIS, in its English acronym) is a very rare entity in endocrinology. It is characterized by a variable magnitude androgen receptor mutation, whereby 46, XY individuals are not normally virilized, despite retaining their testicles and having testosterone concentrations in the male range. The clinical picture is variable and depends on the depth of the receptor alteration. At one extreme, there are cases of complete androgenic insensitivity (CAIS) with a female phenotype. At the other extreme, there is partial insensitivity (PAIS) that extends from the female phenotype, with or without genital ambiguity, to cases of infertile or undervirilized men, who have milder androgenic insensitivity. In female phenotypes, the testes are usually in an ectopic position and those located within the abdomen are at risk of malignancy, and therefore are usually removed. These are the most difficult cases to manage because apart from the need for gonadectomy followed by female hormonal therapy, there is a narrow vagina and a deep blind pouch that usually requires surgical correction to allow sexual activity. In this work, we present 5 cases of AIS recently seen in 2 clinical centers in Santiago and that illustrate the heterogeneity of presentation. In addition, we make an updated review of the diagnostic criteria, the most appropriate treatments, and the overall management of this condition.


Subject(s)
Humans , Female , Adolescent , Adult , Middle Aged , Young Adult , Androgen-Insensitivity Syndrome/diagnosis , Phenotype , Disorders of Sex Development , Androgen-Insensitivity Syndrome/genetics , Androgen-Insensitivity Syndrome/therapy , Testis , Magnetic Resonance Imaging , Receptors, Androgen , Tomography, X-Ray Computed , Diagnosis, Differential
6.
Article in Chinese | WPRIM | ID: wpr-921968

ABSTRACT

MAMLD1 gene has been implicated in 46,XY disorders of sex development (DSD) in recent years. Patients carrying MAMLD1 gene variants showed a "continuous spectrum" of simple micropenis, mild, moderate and severe hypospadias with micropenis, cryptorchidism, split scrotum and even complete gonadal dysplasia. The function of MAMLD1 gene in sexual development has not been fully elucidated, and its role in DSD has remained controversial. This article has reviewed recent findings on the role of the MAMLD1 gene in DSD, including the MAMLD1 gene, its encoded protein, genetic variants, clinical phenotype and possible pathogenic mechanism in DSD.


Subject(s)
DNA-Binding Proteins/genetics , Disorders of Sex Development/genetics , Humans , Male , Mutation , Nuclear Proteins/genetics , Phenotype , Sexual Development , Transcription Factors/genetics
7.
Article in Chinese | WPRIM | ID: wpr-922011

ABSTRACT

OBJECTIVE@#To explore the genetic basis for a child with 46,XY disorders of sex development (DSD) and explore its genotype-phenotype correlation.@*METHODS@#The child was subjected to whole exome sequencing (WES), and exons 1 to 7 of NR5A1 were subjected to multiplex ligation-dependent probe amplification (MLPA) analysis.@*RESULTS@#The patient presented with rudimentary vulva of a female with Tanner stage 1. B-mode ultrasonography has detected ovary and uterus. The child was found to have a chromosome karyotype of 46,XY. WES revealed that the patient has harbored heterozygous deletion of exon 5 of the NR5A1 gene, which was a novel pathogenic variant inherited from the mother. No abnormality was found in the father.@*CONCLUSION@#The main symptoms of 46,XY DSD children are insufficient external genitalia masculinization, for which variants of the NR5A1 gene are an important cause. WES has improved the detection rate of genetic variants and provided a solid basis for genetic counseling of the affected families.


Subject(s)
Child , Disorder of Sex Development, 46,XY/genetics , Disorders of Sex Development/genetics , Exons/genetics , Female , Genetic Testing , Heterozygote , Humans , Mutation , Steroidogenic Factor 1/genetics
8.
J. pediatr. (Rio J.) ; 96(5): 607-613, Set.-Dec. 2020. tab
Article in English | LILACS, ColecionaSUS, SES-SP | ID: biblio-1135058

ABSTRACT

Abstract Objective: To evaluate, in a sample of patients with disorders of sex development (DSD), data related to the age at referral and their correlation with the initial complaints, gender at referral, defined gender after diagnosis and etiological diagnosis. Methods: Retrospective review of the age at the first consultation and the reason for it, initial social gender and gender after the diagnosis, karyotype and etiological diagnosis of all cases treated at a DSD outpatient clinic between 1989 and 2016. Cases that did not involve DSD and DSD diagnoses that do not usually involve ambiguous genitalia, thus not requiring specialized monitoring, were excluded. Results: Of the 1793 treated cases, 1139 were diagnosed with some type of DSD. This study excluded 430 cases (272 with Turner's syndrome, 66 with Klinefelter syndrome, and 92 with pure gonadal dysgenesis), thus a total 709 individuals were included. Of these, 82.9% were referred due to ambiguous genitalia; only one-quarter were still in the first month of life, and 6.6% were referred due to pubertal delay, with most of them aged 10 years or older. Of these patients, 68.6% had a diagnosis of XY DSD, 22.4% of XX DSD, and 9% of sex chromosome abnormalities. Conclusions: This study presents the largest series in the literature of patients with DSD treated in a single center. The time of referral of the majority of patients with ambiguous genitalia fell short of the ideal, and milder cases of ambiguous genitalia and many with pubertal manifestations were referred even later. The results reinforce the importance of continuing education for professionals who will have the first contact with these patients, mainly pediatricians and neonatologists.


Resumo Objetivo: Avaliar em uma amostra de pacientes com distúrbios da diferenciação do sexo (DDS), dados relacionados à idade, ao encaminhamento e sua correlação com as queixas iniciais, ao sexo ao encaminhamento e ao sexo final e diagnóstico etiológico. Métodos: Revisão retrospectiva da idade por ocasião da primeira consulta e motivo dela, sexo social inicial e após definição do diagnóstico, cariótipo e diagnóstico etiológico de todos os casos atendidos em um ambulatório especializado em DDS entre 1989 e 2016. Foram excluídos casos que não compreendiam DDS e diagnósticos de DDS que não cursam comumente com ambiguidade genital, não necessitam de acompanhamento especializado. Resultados: Dos 1.793 casos atendidos, 1.139 foram diagnosticados com algum DDS. Excluíram-se 430 (272 síndrome de Turner, 66 síndrome de Klinefelter e 92 disgenesia gonadal pura), totalizando 709. Desses, 82,9% foram encaminhados por ambiguidade genital, somente um quarto ainda no primeiro mês de vida e 6,6% por atraso puberal, a maioria com 10 anos ou mais; 68,6% tiveram diagnóstico de DDS XY; 22,4% DDS XX e 9% de anomalias dos cromossomos sexuais. Conclusões: Este estudo apresenta a maior casuística na literatura de pacientes com DDS atendidos em um único serviço. O momento de encaminhamento da maioria dos pacientes com ambiguidade genital foi aquém do ideal e casos mais leves de ambiguidade e muitos com manifestações puberais foram encaminhados ainda mais tardiamente. Os resultados reforçam a importância do ensino continuado a profissionais que terão o primeiro contato com esses pacientes, principalmente pediatras e neonatologistas.


Subject(s)
Humans , Child , Disorders of Sex Development/diagnosis , Disorders of Sex Development/therapy , Retrospective Studies , Karyotype , Pediatricians
9.
Sex., salud soc. (Rio J.) ; (35): 283-307, maio-ago. 2020.
Article in Portuguese | LILACS | ID: biblio-1139641

ABSTRACT

Resumo As regulações esportivas para definir a elegibilidade na categoria feminina são políticas antigas, datadas do começo do século XX, que atravessam disputas sobre o corpo, suas inscrições e possibilidades de futuro. De modo que a definição de um diagnóstico, com suas articulações de saúde, doença e cuidado terapêutico, concentram alguns atributos significativos para essa determinação de elegibilidade. Acompanhando um pouco da história da ex-judoca brasileira Edinanci Silva, vamos compreender como tais regulações constituem estratégias normativas de controle do corpo e da população, assim como mobilizam os cenários em que os sujeitos existem, se individualizam e cuidam de si. Essa difícil tarefa de consentir num contexto de crise, de risco e de humilhação diz muito sobre os limites dessas mesmas inclusões pelo esporte. No fim, também vamos entender porque a virilização feminina continua a ser medicalizada e importa mais do que a eficiência do rendimento esportivo propriamente dito.


Abstract The sports regulations to define the eligibility in the female category are old policies, dating from the beginning of the 20th century, which go through disputes over the body, its inscriptions and possibilities for the future. In this sense, the definition of a diagnosis, with its articulations of health, disease and therapeutic care, concentrate some significant attributes for this eligibility. Following a bit of the history of former Brazilian judoka Edinanci Silva, we'll understand how such regulations constitute normative strategies for controlling the body, the population, as well as mobilizing the scenarios in which the subjects exist, individualize and take care of themselves. This difficult task of consenting in a context of crisis, risk and humiliation says a lot about the limits of these same inclusions by sport. In the end, we'll also understand why female virilization continues to be medicalized and matters more than the efficiency of sports performance itself.


Resumen La normativa deportiva para definir la elegibilidad en la categoría femenina son políticas antiguas, fecha del comienzo del siglo 20, que pasan por disputas sobre el cuerpo, sus inscripciones y posibilidades de futuro. De modo que la definición de un diagnóstico, con sus articulaciones de salud, enfermedad y atención terapéutica, concentre algunos atributos significativos para esta determinación de elegibilidad. Siguiendo un poco de la historia de la ex-judoca brasileña Edinanci Silva, entenderemos cómo estas regulaciones constituyen estrategias normativas para controlar el cuerpo y la población, así como movilizar los escenarios en que los sujetos existen, se individualizan y se cuidan. Esta difícil tarea de consentir en un contexto de crisis, riesgo y humillación dice mucho sobre los límites de estas mismas inclusiones para el deporte. Al final, también entenderemos por qué la virilización femenina sigue medicalizada y es más importante que la eficacia del rendimiento deportivo en sí.


Subject(s)
Humans , Female , Sex Determination Analysis , Disorders of Sex Development/diagnosis , Sports , Women , Athletes , Policy , Body Constitution , Sex Characteristics , Hyperandrogenism , Informed Consent
10.
Article in Chinese | WPRIM | ID: wpr-828501

ABSTRACT

OBJECTIVE@#To investigate the efficacy and safety of aromatase inhibitor letrozole in treatment of male children with disorders of sex development (DSD).@*METHODS@#Clinical data of 12 male DSD children with a mean age of 14.6±2.5 years admitted to Peking Union Medical College Hospital from January 2014 to January 2016 were retrospectively analyzed. The patients were treated with letrozole (1.25-2.5 mg, once a day) for 3 months or longer, and followed up for 0.5-2.5 years. Clinical manifestation and laboratory test findings were documented, and the efficacy and safety were evaluated.@*RESULTS@#After half-year treatment, the blood luteinizing hormone (LH), follicle-stimulating hormone (FSH) and testosterone levels of patients increased (all < 0.05), and estrogen levels decreased from baseline ( < 0.05). After 1 year of treatment, the blood testosterone level was significantly higher ( < 0.05); the LH and FSH levels tended to increase and the estrogen level tended to decrease, but there was no significant statistical difference ( >0.05). Semen was routinely detected in 8 patients, and sperms were detected in semen of 3 patients with hypospadias. There were no significant changes in biochemical results after treatment, and no significant adverse event was observed during the treatment.@*CONCLUSIONS@#Letrozole can effectively increase testosterone levels in patients with disorders of sex development and promote spermatogenesis, it has no significant adverse effects in short-term administration.


Subject(s)
Adolescent , Child , Disorders of Sex Development , Drug Therapy , Follicle Stimulating Hormone , Humans , Letrozole , Therapeutic Uses , Luteinizing Hormone , Male , Retrospective Studies , Testosterone
11.
Article in Chinese | WPRIM | ID: wpr-879510

ABSTRACT

OBJECTIVE@#To explore the pathogenesis for a SRY-negative male with 46,XX disorder of sex development (DSD).@*METHODS@#Peripheral blood samples of the patient and his family members were subjected to chromosomal karyotyping, routine PCR, real-time fluorescence quantitative PCR, whole exome sequencing and whole genome sequencing. The data was analyzed with NextGENe software.@*RESULTS@#Both the proband and his brother presented a 46,XX karyotype with negative SRY gene, while their father presented normal phenotype and karyotype with positive SRY gene. No pathogenic variant associated with sex development was detected by whole exome sequencing, while a 243 kb duplication was detected by whole genome sequencing in the 5' upstream region of the SOX9 gene in the proband, his brother and father. The same duplication was not found in his sister and mother.@*CONCLUSION@#The 243 kb duplication at the 5' upstream of the SOX9 gene may predispose to the 46,XX DSD in this family. It is speculated that there exist an unknown core regulatory element in the upstream of the SOX9, and its duplication may trigger expression of SOX9 and initiate testicular differentiation in the absence of SRY gene.


Subject(s)
Disorders of Sex Development/genetics , Female , Humans , Male , Mutation/genetics , Regulatory Sequences, Nucleic Acid/genetics , Sex-Determining Region Y Protein/genetics , Testis , Whole Exome Sequencing
12.
Rev. cuba. endocrinol ; 30(3): e176, sept.-dic. 2019. graf
Article in Spanish | LILACS, CUMED | ID: biblio-1126444

ABSTRACT

RESUMEN Los trastornos del desarrollo sexual son estados congénitos en los cuales el desarrollo del sexo cromosómico, gonadal o anatómico es atípico. Por tratarse de un caso sumamente raro consideramos de interés su presentación. Se presenta adolescente masculino de 15 años, con antecedentes de genitales atípicos al nacer, desarrollo de baja talla y estigmas turnerianos, pubertad espontánea y normal. Los estudios genéticos determinaron como sexo cromosómico un mosaico 45,X/46,XY/47XYY, y sexo molecular varón. Se inscribió socialmente como varón, se le realizó cirugía de reconstrucción genital y utilizó tratamiento con hormona de crecimiento biosintética que mantiene actualmente. La evolución clínica ha sido favorable con adecuada integración social. Ante la presencia de genitales atípicos al nacer se necesita de un manejo multidisciplinario. El diagnóstico etiológico de los trastornos de la diferenciación sexual requiere de una alta pericia médica. Un tratamiento integral en estos pacientes les garantiza una buena calidad de vida(AU)


ABSTRACT Sexual development´s disorders are congenital states in which the development of the chromosomal, anatomic or gonadal sex is atypical. Since this is a very rare case, we consider it as of interests for presentation. It is presented a teenager, 15-years-old male, with a history of atypical genitalia at birth, development of short height and Turner's stigmas, and spontaneous and normal puberty. The genetic studies identified as chromosomal sex a mosaic 45,X/46,XY/47XYY and male as molecular sex. He was socially registered as a male, he had a genital reconstruction surgery and he was under treatment with biosynthetic growth hormone that he currently maintains. The clinical evolution has been favourable with adequate social integration. In the presence of atypical genitalia at birth, it is needed a multidisciplinary management. The etiological diagnosis of disorders of sexual differentiation requires a high level of medical expertise. A comprehensive treatment in these patients guarantees them a good quality of life(AU)


Subject(s)
Humans , Male , Adolescent , Quality of Life , Disorders of Sex Development/etiology , Sex Reassignment Surgery/methods , Mosaicism , Sex Differentiation , Clinical Evolution
13.
Psicol. ciênc. prof ; 39(3,n.esp): 129-134, dez. 2019-maio 2020.
Article in Portuguese | LILACS, INDEXPSI | ID: biblio-1096848

ABSTRACT

Há várias teorias para explicar a sexualidade humana e são várias as ciências que também tentam explicá-la. Nesse sentido, a Análise do Comportamento entende a sexualidade como um comportamento, e a intersexualidade como uma metacontigência, isto é, contingências de reforçamento em que um organismo depende do outro para obter reforçamento e que produz um produto agregado. Então, o presente artigo está embasado teoricamente no Bahaviorismo Radical de B.F. Skinner e tem como objetivo analisar a intersexualidade à luz da Análise do Comportamento...(AU)


There are several theories to explain human sexuality and there are several sciences that try to explain it. In this sense, for some years now, the Behavior Analysis has been concerned with issues of macrocontamination and metacontingency. In this sense, the Behavior Analysis understands sexuality as a behavior, and intersexuality as a metacontigence, that is, contingencies of reinforcement in which an organism depends on the other to obtain reinforcement and produces an aggregate product. Thus, the present paper is based theoretically on the Radical Bahaviorism of B.F. Skinner and aims to analyze the intersexuality in the light of the Analysis of the Behavior...(AU)


Existen varias teorías para explicar la sexualidad humana, y muchas ciencias también intentan explicarla. En este sentido, el Análisis del Comportamiento entiende la sexualidad como un comportamiento, y la intersexualidad como metacontingencia, es decir, contingencias de refuerzo en las que un organismo depende del otro para el refuerzo y produce un producto agregado. Por lo tanto, el presente trabajo se basa teóricamente en el Behaviorismo Radical de B.F. Skinner y tiene como objetivo analizar la intersexualidad a la luz del Análisis del Comportamiento...(AU)


Subject(s)
Humans , Male , Female , Psychology , Sexual Behavior , Disorders of Sex Development , Sexuality , Behavior
14.
Article | WPRIM | ID: wpr-785408

ABSTRACT

PURPOSE: Patients with ovotesticular disorder of sex development (DSD) and mixed gonadal dysgenesis (MGD) usually present with asymmetric gonads and have wide phenotypic variations in internal and external genitalia. The differential diagnosis of these conditions is based on karyotype and pathological findings of the gonads. This study investigated the clinical features at presentation, karyotype, sex of rearing, and pubertal outcomes of patients with ovotesticular DSD and MGD.METHODS: The study comprised 23 patients with DSD who presented with asymmetric gonads. The presenting features, karyotype, sex of rearing, and pubertal outcomes were reviewed retrospectively.RESULTS: All 23 patients presented with ambiguous genitalia at a median age of 1 month (range, 1 day–1.6 years). Müllerian duct remnants were identified in 15 of 23 patients (65.2%). Fourteen patients were diagnosed with ovotesticular DSD, whereas the other 9 were diagnosed with MGD. Eight of 14 patients (57.1%) with ovotesticular DSD were raised as males, while 7 of 9 patients with MGD (77.8%) were assigned as males. One male-assigned patient with ovotesticular DSD changed to female sex at age 20 years.CONCLUSION: Patients with ovotesticular DSD and MGD manifest overlapping clinical presentations and hormonal profiles. It is difficult to determine the sex of rearing and predict long-term pubertal outcomes. Therefore, long-term follow-up is required to monitor spontaneous puberty, sex outcome, and urological and gynecological complications.


Subject(s)
Adolescent , Diagnosis, Differential , Disorders of Sex Development , Female , Follow-Up Studies , Genitalia , Gonadal Dysgenesis , Gonadal Dysgenesis, Mixed , Gonads , Humans , Karyotype , Male , Ovotesticular Disorders of Sex Development , Puberty , Retrospective Studies
15.
Article in Chinese | WPRIM | ID: wpr-819041

ABSTRACT

Disorders of sex development (DSD) refer to a group of diseases characterized by abnormal congenital development of chromosomes, gonad or genitals with different pathophysiological changes and clinical manifestations. DSD is more common in neonates and adolescents, and neonates often show genital abnormalities while adolescents show abnormal sexual development during puberty. It is the international consensus that the scope of DSD should include basic clinical evaluation (internal and external genitalia and endocrine hormones), diagnostic confirmation (chromosome, genetic diagnosis), psychological assessment for children and family, treatment (sex assignment, hormone replacement and surgical intervention), potential fertility protection and long-term follow-up, which require the expertise of pediatric endocrinology, pediatric urology, clinical psychology, genetic disciplines, medical images and other related disciplines; that is, individualized management of children with DSD requires an experienced multidisciplinary team (MDT). This article reviews the recent progress on the evaluation, diagnosis and management of disorders of sex development.


Subject(s)
Consensus , Disorders of Sex Development , Diagnosis , Therapeutics , Humans , Medicine , Sexual Development
16.
Braz. j. biol ; 78(3): 548-555, Aug. 2018. tab, graf
Article in English | LILACS | ID: biblio-951567

ABSTRACT

Abstract Imposex is the development of male sexual characteristics caused by the toxic effects of some chemicals that acts as an endocrinal disruptor. Antifouling paints contain these chemicals. Cartagena lacks studies to indicate the extent of imposex in its coastal waters. The aim of this study was to determine the prevalence of imposex in the gastropod Stramonita haemastoma in Cartagena, Colombia. Specimens were collected during 2013 from locations of high and low influence of port activity. Morphometric measurements and the frequency of the occurrence of imposex were registered. The comparison among morphometric variables showed statistically significant differences between the two sites studied. Furthermore, the females of the S. haemastoma species presented an imposex frequency of 93.1% in Birds' Island, Cartagena Bay, compared to 31.8% in La Bocana. The relative penis size index or RPLI (10.145 and 3.231) and vas deferens sequence index or VDSI (2.83 and 1.16), showed possible contamination by organotin compounds in both places.


Resumo Imposex é o desenvolvimento de características sexuais masculinas causadas por poluentes tóxicos de alguns produtos químicos que atuam como desreguladores endócrinos. Tintas anti-incrustantes são as que contêm estes produtos químicos. Cartagena carece de estudos para indicar a extensão do imposex nas suas águas costeiras. O objetivo deste estudo foi determinar a prevalência de imposex no gastrópode Stramonita haemastoma em Cartagena, Colômbia. Os espécimes foram coletados durante 2013 de locais de alta e baixa influência da atividade portuária. Foram registradas as medidas morfométricas e a frequência da ocorrência do imposex. A comparação entre as variáveis morfométricas mostrou diferenças estatisticamente significantes entre os dois locais estudados. Além disso, as fêmeas da espécie S. haemastomaapresentaram uma frequência de imposex de 93,1% na Ilha das Aves, Baía das Cartagena, em comparação com 31,8% em La Bocana. O índice do comprimento relativo do pênis ou RPLI (10,145 e 3,231) e o índice da sequência do vaso deferente ou VDSI (2,83 e 1,16), mostraram possível contaminação por compostos organoestânicos em ambos os locais.


Subject(s)
Animals , Male , Female , Organotin Compounds/toxicity , Paint/toxicity , Disorders of Sex Development/chemically induced , Water Pollutants, Chemical/toxicity , Environmental Monitoring/methods , Gastropoda/drug effects , Vas Deferens/drug effects , Water Pollutants, Chemical/analysis , Colombia
17.
Estilos clín ; 23(2): 306-321, maio-ago. 2018.
Article in Portuguese | LILACS, INDEXPSI | ID: biblio-975253

ABSTRACT

O artigo apresenta o estatuto do segredo familiar como forma de enfrentamento ao diagnóstico de ambiguidade genital de uma criança. O estudo de caso, realizado a partir da escuta clínica de base psicanalítica, evidenciou a experiência destes pais frente à condição da ambiguidade genital, de forma particular e única. Destaca-se o modo como cada um tenta assimilar o real desta condição genética a partir de um segredo familiar estabelecido entre os pais e o irmão mais velho do paciente.


This article presents the statute of the family secret as a way of confronting the diagnosis of genital ambiguity in a child. The case study, conducted through a psychoanalytic clinical listening, disclosed a unique and particular parental experience in facing their child's genital ambiguity. We highlight individuals' particular attempts to assimilate the reality of this genetic condition through a family secret established between the patient's parents and older brother.


El artículo presenta el estatuto del secreto de familia como forma de enfrentar el diagnóstico de ambigüedad genital del niño. Un estudio de caso desde la escucha clínica psicoanalítica pone de relieve la experiencia de los padres frente a la condición de ambigüedad genital de manera particular y única. Se destaca la forma como cada cual intenta asimilar el real de esta condición genética a partir de un secreto de familia que se establece entre los padres y el hermano mayor del paciente.


Subject(s)
Humans , Female , Child , Parents , Psychoanalysis , Disorders of Sex Development/psychology , Intersex Persons/psychology , Family
18.
Rio de Janeiro; s.n; 2018. 262 f p.
Thesis in Portuguese | LILACS | ID: biblio-909424

ABSTRACT

Esta tese discute distintos enquadres (frames) da intersexualidade através do exame das representações biomédicas, midiáticas e do ativismo intersexo no Brasil. Atualmente, a intersexualidade tem sido nomeada pela medicina como desordem do desenvolvimento sexual e se refere a um conjunto extenso de variações em que cromossomos, níveis hormonais, órgãos sexuais internos e externos estariam em desacordo com o regime binário de sexo/gênero. A hipótese desta tese é a de que, para além de sua definição terminológica, intersexualidade e desenvolvimento (social, econômico, cultural, moral) entrelaçam-se e servem de meio de expressão recíproca em diferentes planos e narrativas. O trabalho desenvolve-se através da análise de material sobre intersexualidade divulgado pela mídia brasileira entre os anos de 2000-2017; em observações realizadas em evento médico internacional e quatro entrevistas com médicos em serviço especializado da cidade de Fortaleza; e entrevistas com seis ativistas intersexo brasileiros. A análise percorreu os múltiplos sentidos de desenvolvimento (biológico, sexual, social, econômico, político e moral) interseccionados a marcadores sociais da diferença, através dos quais se produzem enquadramentos sobre a intersexualidade. Como resultado, desenha o panorama de uma distribuição diferencial de visibilidades, sofrimentos, e narrativas no âmbito da regulação de corpos e identidades não-conformes ao regime binário sexual e de gênero


Subject(s)
Humans , Disorders of Sex Development , Political Activism , Sexual and Gender Minorities , Sexuality , Social Control, Informal , Brazil
19.
Article in English | WPRIM | ID: wpr-719219

ABSTRACT

Androgen insensitivity syndrome (AIS) is a rare genetic disease caused by various abnormalities in the androgen receptor (AR). The AR is an essential steroid hormone receptor that plays a critical role in male sexual differentiation and development and preservation of the male phenotype. Mutations in the AR gene on the X chromosome cause malfunction of the AR so that a 46,XY karyotype male has some physical characteristics of a woman or a full female phenotype. Depending on the phenotype, AIS can be classified as complete, partial or mild. Here, we report 2 cases of complete AIS in young children who showed complete sex reversal from male to female as a result of AR mutations. They had palpable inguinal masses and normal female external genitalia, a blind-end vagina and absent Müllerian duct derivatives. They were both 46,XY karyotype and AR gene analysis demonstrated pathologic mutations in both. Because AIS is inherited in an X-linked recessive manner, we performed genetic analysis of the female family members of each patient and found the same mutation in the mothers of both patients and in the female sibling of case 2. Gonadectomy was performed in both patients to avoid the risk of malignancy in the undescended testicles, and estrogen replacement therapy is planned for their adolescence. Individuals with complete AIS are usually raised as females and need appropriate care.


Subject(s)
Adolescent , Androgen-Insensitivity Syndrome , Child , Disorders of Sex Development , Estrogen Replacement Therapy , Female , Genitalia , Humans , Karyotype , Male , Mothers , Phenotype , Receptors, Androgen , Sex Differentiation , Siblings , Testis , Vagina , X Chromosome
20.
Article in Chinese | WPRIM | ID: wpr-775817

ABSTRACT

OBJECTIVE@#To delineate cytogenetic and molecular abnormalities of a fetus carrying a de novo 46,X,der(X),t(X;Y)(p22.3;p11.2).@*METHODS@#G-banded karyotyping and next-generation sequencing (NGS) were used to analyze the fetus, his father and sister. Single nucleotide polymorphism-based arrays (SNP-array), multiple PCR and fluorescence in situ hybridization (FISH) were utilized to verify the result.@*RESULTS@#G-banded karyotyping at 320 bands showed that the fetus had a normal karyotype, while NGS has identified a 3.58 Mb microdeletion at Xp22.33 and a Y chromosomal segment of about 10 Mb at Yp11.32p11.2. With the sequencing results, high-resolution karyotyping at 550-750 bands level has determined the fetus to be 46,X,der(X)t(X;Y)(p22.3;p11.2). The result was confirmed by PCR amplification of the SRY gene, FISH and SNP-array assays. The karyotypes of his father and sister were both normal. His sister also showed no amplification of the SRY gene, and her NGS results were normal too, suggesting that the karyotype of the fetus was de novo.@*CONCLUSION@#Combined karyotyping, NGS, SNP-array, PCR and FISH assay can facilitate diagnosis of XX disorder of sex development.


Subject(s)
Chromosomes, Human, X , Genetics , Disorders of Sex Development , Genetics , Female , Fetus , Humans , In Situ Hybridization, Fluorescence , Karyotyping , Male , Polymerase Chain Reaction , Polymorphism, Single Nucleotide , Translocation, Genetic
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