Gender Identity and Sexual Function in 46,XX Patients with Congenital Adrenal Hyperplasia Raised as Males.

In individuals with congenital adrenal hyperplasia (CAH) and 46,XX karyotype, androgens produced by the adrenal glands during the intrauterine development promote virilization of the genitals, which may even result in the development of a well-formed penis. Some of these children with late diagnosis are registered as males after birth. After obtaining approval from the internal review board, we evaluated gender identity and sexual function in four 46,XX severely virilized patients with CAH, who were originally registered and raised as males, assisted in our Disorders of Sexual Development Clinic. The evaluation consisted of questionnaires to assess gender identity and sexual activity and interview with the multidisciplinary team that provides care for these patients. The patients underwent surgery to remove uterus, ovaries, and remaining vaginal structures, in addition to implantation of testicular prosthesis and correction of hypospadias, when necessary. All four patients have developed a clear male gender identity, and when evaluated for sexual activity, they have reported having erections, libido, orgasms, and sexual attraction to women only. Two of these 4 patients had satisfactory sexual intercourses when assessed using the International Index of Erectile Function questionnaire. The other two patients who never had sexual intercourse reported not having a partner for sexual activity; one is 18 years old, and the other is 14 years old. This study showed that this group of 46,XX severely virilized patients with CAH, registered and raised as males, adapted well to the assigned male gender, with satisfactory sexual function in patients who had sexual intercourse.

Clinical profile of 93 cases of 46, XY disorders of sexual development in a referral center.

The term DSD refers to disorders that affect the normal process of sexual development causing disagreement between chromosomal, gonadal and phenotypic sex, and this study aimed to describe the clinical profile of a group with DSD 46, XY joined on DSD Clinic of Hospital of Salvador, Bahia Clinics. It was a retrospective study of medical records of survey data of 93 patients with DSD 46, XY. Among the patients studied 50.5% had no defined etiology and 20.4% had androgen insensitivity syndrome (AIS), 63.4% had been initially recorded in males, 31 (33.3%) in females, being that in two it was necessary to reassignment. All patients with complete AIS pure gonadal dysgenesis and had female genitalia. Others have been diagnosed with genital ambiguity or severe hypospadias and cryptorchidism. The gonads were palpable at the first consultation in 75.3% of patients. It is important to establish an active surveillance program for these patients. The first assessment took place before the age of ten in more than 50% of cases, which shows that much needs to be done for medical education and community about the DSD. Because the phenotypic variability of sexual development disorders was noted that the clinical profile of patients studied ranged between different etiologies, including hindering the diagnostic conclusion of these individuals.

Clinical profile of 93 cases of 46, XY disorders of sexual development in a referral center

ABSTRACT The term DSD refers to disorders that affect the normal process of sexual development causing disagreement between chromosomal, gonadal and phenotypic sex, and this study aimed to describe the clinical profile of a group with DSD 46, XY joined on DSD Clinic of Hospital of Salvador, Bahia Clinics. It was a retrospective study of medical records of survey data of 93 patients with DSD 46, XY. Among the patients studied 50.5% had no defined etiology and 20.4% had androgen insensitivity syndrome (AIS), 63.4% had been initially recorded in males, 31 (33.3%) in females, being that in two it was necessary to reassignment. All patients with complete AIS pure gonadal dysgenesis and had female genitalia. Others have been diagnosed with genital ambiguity or severe hypospadias and cryptorchidism. The gonads were palpable at the first consultation in 75.3% of patients. It is important to establish an active surveillance program for these patients. The first assessment took place before the age of ten in more than 50% of cases, which shows that much needs to be done for medical education and community about the DSD. Because the phenotypic variability of sexual development disorders was noted that the clinical profile of patients studied ranged between different etiologies, including hindering the diagnostic conclusion of these individuals.

O discurso biomédico e o da construção social na pesquisa sobre intersexualidade / The biomedical discourse and the social construction in research on intersexuality

A intersexualidade se define pela existência de desequilíbrio entre os fatores responsáveis pela determinação do sexo: o indivíduo apresenta caracteres tanto masculinos quanto femininos. A ambiguidade sexual apresenta-se como demarcador da condição de intersexo. Esta revisão de literatura analisou artigos científicos de medicina, psicologia, ciências sociais e direito/ativismo político, acessados através de bancos e portais eletrônicos. As publicações foram analisadas segundo contexto, área/disciplina, tipo de artigo, conteúdo e metodologia do estudo. Os resultados apontaram que os artigos médicos consideraram a intersexualidade como doença crônica, enfatizando as características endocrinológicas e genéticas, efeitos físicos e psicológicos da cirurgia genital. Os artigos de psicologia destacaram aspectos da sexualidade, identidade e orientação sexual. As ciências sociais realizaram uma crítica à visão bipolar do gênero, ressaltando o processo de designação sexual dos intersexuais. Os artigos do campo do direito/ativismo político priorizaram temas como: estigmas sociais, implicações das cirurgias da genitália e mobilização social em prol do direito à saúde. Em relação às metodologias dos estudos, as pesquisas médicas utilizaram predominantemente a abordagem comparativa; os estudos em psicologia utilizaram abordagens qualitativas com entrevistas semi-estruturadas ou questionários; em ciências sociais, os artigos priorizaram pesquisas etnográficas e revisões de literatura; no campo do direito/ativismo político, foram destacadas narrativas e estudos de caso. As narrativas das famílias só foram encontradas em uma publicação, pertencente ao campo da psicologia. Na maioria dos artigos, o conceito de intersexualidade aparece claramente atravessado pelo discurso biomédico. O legado da biomedicina atua diretamente na construção de significados sobre o corpo e gênero.

The intersex is defined by the existence of imbalance between the factors responsible for sex determination: the individual holds both male and female characteristics. The sexual ambiguity presents the path of intersex condition. This literature review examined papers in medicine, psychology, law and social/political activism, accessed through electronic databases and portals. The publications were analyzed according to context, area/discipline, article type, content and methodology of the study. The results showed that the medical articles considered intersexuality as a chronic disease, with emphasis on endocrine and genetic characteristics, physical and psychological effects of genital surgery. Articles of psychology emphasized aspects of sexuality, identity and sexual orientation. Social sciences conducted a critique of the bipolar view of gender, emphasizing the process of designation of sex intersex. The articles of the field of law/political activism prioritized issues such as social stigmas, implications of surgery of the genitalia and social mobilization for the right to health. Regarding the methodology of the studies, medical research has predominantly used a comparative approach, the studies in psychology have used qualitative approaches with semi-structured interviews or questionnaires, social sciences articles prioritized ethnographic research and literature reviews, the field of law/political activism highlighted narratives and case studies. The narratives of families have only been found in a publication, belonging to the field of psychology. In most papers, the concept of intersexuality appears clearly crossed the biomedical discourse. The legacy of biomedicine acts directly on the construction of meanings about the body and gender.

Aspectos da construção da maternidade em mulheres com filhos intersexuais / Construction aspects of motherhood in women with intersexual child

O nascimento de uma criança promove modificações relevantes no contexto da família. Na condição de intersexualidade as transformações se tornam ainda mais expressivas, desestabilizando a dinâmica familiar e a definição de papéis parentais. A maternidade se constrói em um ambiente de incertezas e especulações quanto ao sexo e gênero da criança. Este dissertação é composta de dois artigos. O primeiro intitula-se “O discurso biomédico e o da construção social na pesquisa sobre intersexualidade” e realiza uma revisão de literatura sobre as publicações de Medicina, Psicologia, Ciências Sociais e Direito/Ativismo Político que enfocam o tema da intersexualidade. As publicações foram analisadas segundo o contexto, área/disciplina, tipo de artigo, metodologia do estudo e conteúdo. O segundo artigo intitulado 'Ambivalências na transição para maternidade: a chegada de uma criança intersexual” teve como objetivo analisar as especificidades do processo de construção da maternidade diante do nascimento de criança intersexual. Metodologia Estudo qualitativo selecionando mães de crianças com diagnóstico de Hiperplasia Adrenal Congênita, um das etiologias da intersexualidade, acompanhadas pelo Setor de Genética / HUPES/UFBA. Foram realizadas entrevistas narrativas com 12 (doze) mães e o levantamento de dados sócio-demográficos, história familiar e rede social de apoio mediante questionário. Resultados A dinâmica da ambivalência se apresentou como transversal a todo o processo de construção da maternidade, inscrita no próprio corpo da criança, nas crenças sobre o intersexo, atravessando a definição da identidade de gênero, os sentimentos maternos sobre a criança, as estratégias de cuidado, além da própria vivência da maternidade. Em relação aos sentimentos maternos sobre a criança, existiu uma oscilação da raiva à resignação...