Sex, gender, sexuality and orientation in biomedical research articles on intersex variations: a diachronic corpus analysis

Risk and danger on the rise: Representation of intersex variations of innate sex characteristics in biomedical research.

Background Intersex people are at risk of human rights abuses because their bodies do not fit medical and social norms for female or male bodies. The 2006 Yogyakarta Principles aim to promote good practices in protecting the rights of LGBT and intersex people by applying human rights law in relation to ‘sexual orientation' and ‘gender identity'. They were ineffective in protecting the rights of intersex people, including due to an inappropriate framing around sexual orientation and gender identity. In the same year, a group of clinicians published a ‘consensus statement' reframing intersex traits as ‘disorders of sex development', reinscribing medical authority over intersex bodies. In 2015 a first country (Malta) enacted protections of rights to bodily integrity and physical autonomy and freedom from discrimination, associated with a new attribute of ‘sex characteristics'. Methods In January 2017, the International Service for Human Rights and ARC International issued a call for submissions to supplement the Yogyakarta Principles, and brought together a drafting team. The Asia Pacific Forum of National Human Rights Institutions and United Nations Development Program also held a gender- and geopolitically-balanced conference to mark a decade of the original Principles and produce recommendations. An expert meeting was held in Geneva in September 2017 to agree the update. Results The ‘Yogyakarta Principles plus 10' elaborated a new attribute of sex characteristics and recognised rights to bodily integrity, truth and legal recognition. These directly respond to the human rights situation of intersex people, with relevance to intersex populations, healthcare workers, advocates, and policymakers. Conclusions Adoption of the new attribute and attention to the new Principles can help address the human rights of people with intersex variations within health, education, and other social policy settings.

Psychosexual Development in Adolescents and Adults with Disorders of Sex Development—Results from the German Clinical Evaluation Study

ObjectiveReliable data on prevalence of differences of sex development (DSD) are lacking. We aimed to estimate population-based prevalence of DSD among pediatric endocrine care centers in Switzerland.DesignRetrospective population-based study including children and adolescents with DSD according to Chicago Consensus, born in Switzerland from 2000 through 2019.MethodsEndocrine departments in 10 Swiss Children's Hospitals and 8 private endocrine practices collected DSD data through the I-DSD registry or case report forms. We calculated prevalence for DSD diagnostic groups and analyzed trends in prevalence.ResultsOver the 20-year study period, we identified 561 individuals with DSD. Almost half (n = 266, 47%) had sex chromosome DSD, 177 (32%) had 46,XY DSD, and 118 (21%) had 46,XX DSD. Causes for 46,XY DSD were disturbed androgen synthesis or action (37/177, 21%), atypical gonadal development (28/177, 16%), or other causes (112/177, 63%). Causes for 46,XX DSD were androgen excess (99/118, 84%), atypical gonadal development (8/118, 7%), or other causes (11/118, 9%). On average, 28 new cases were born with DSD annually. Prevalence was 17 for sex chromosome DSD, 12 for 46,XY DSD, and 8 for 46,XX DSD per 100 000 live births and year. One per 7500 newborn girls had 46,XX congenital adrenal hyperplasia.ConclusionPrevalence of sex chromosome DSD was underreported due to late diagnosis. Prevalence of 46,XX congenital adrenal hyperplasia is similar to newborn screening data, suggesting good completeness of cases. For complex DSD cases, we expect complete coverage. This study provides a valuable resource for policymaking and (inter)national research on DSD.

Federal initiatives have encouraged collection of sexual orientation, gender identity, and differences of sex development data in national health surveys. Researchers use these data sets to identify health disparities faced by marginalized populations and shape primary care practices. We summarized the current state of sexual orientation, gender identity, and differences of sex development measures in federal health surveys to inform primary care researchers, outline gaps in data, and discussed their research implications. We examined 10 large federal population-based health surveys and, using content analysis, summarized the composition and continuity of their sexual orientation, gender identity, and differences of sex development measures. Federal health surveys have longstanding measures of sexual orientation, with 4 having more than 10 years of data. Several surveys introduced gender identity questions over the last 2 years. Only 1 survey measured differences of sex development. Federal surveys have robust sexual orientation measures, but more surveys including gender identity and differences of sex development (DSD)s are needed. The presence of sexual orientation and gender identity measures in these surveys could help identify primary care disparities among sexual and gender minority populations. Research using sexual orientation data benefits from standardization and continuity that has not yet been achieved for gender identity measures across these surveys. New federal restrictions may hamper further collection of sexual orientation and gender identity data. The absence of differences of sex development data places this population at risk of having their needs go unaddressed in primary care settings.

Major scientific findings about women's sexuality and sexual orientation are reviewed. Sexual orientation is unrelated to mental health. There is no inherent association between gender conformity and women's sexual orientation; masculinity and femininity are linked to sexual orientation in some social contexts but not in others. Research has so far failed to identify major biological or childhood antecedents of women's sexual orientation. Women's sexuality and sexual orientation are potentially fluid, changeable over time, and variable across social contexts. Regardless of sexual orientation, there are important commonalities in women's sexuality. In particular, women tend to have a relational or partner‐centered orientation to sexuality. Together, these findings provide the basis for a paradigm shift in the conceptualization of women's sexual orientation.

Current Challenges in the Management of LGBT Suicide

Disorders of Sex Development (DSD) are a group of congenital medical conditions defined as atypical development of chromosomal, gonadal, and anatomical sex. Psychiatric, behavioral, and gender-associated problems could arise in both male and female adult with DSD. Structured assessments for each variable are needed to properly measure psychiatric and sexual issues and overall quality of life in adults with DSD. This study aims to review structured questionnaire instruments that had been used to assess psychiatric, behavioral, sexual problems, and quality of life in adults with DSD.For psychiatric or behavioral problems, adults with DSD can be assessed with GHQ-28, Brief Symptoms Inventory, Achenbach and Rescorla’s Adult Behavior Checklist, Rosenberg Self-esteem Scale, Mini International Neuropsychiatric Interview plus, Hospital anxiety and depression scale, Body image scale, Adult ADHD self-report scale screener, Short Autism Spectrum Quotient, and coping with DSD questionnaire. For quality of life, assessment could be done with WHOQOL and Short Form-36. Gender role assessment in adults with DSD can be done using Core Gender Identity, Sexual Orientation, and Gender Role Behavior and Utrecht Gender Dysphoria Scale. Both of the apparent male and female DSD patients can be assessed using the instruments available. Recommendations are made based on its function, compliance, validity, reliability, and avaibility of an Indonesian version of the questionnaire.There are a plethora of structured questionnaire tools that have been used to measure psychiatric or behavioral problems, quality of life, and gender roles in adult with DSD, each with its own advantages and disadvantages

Introduction: Differences of sexual development (DSD) define congenital diseases in which an atypical development of chromosomal, gonadal or anatomical sex occurs. The approach involves complex themes: gender designation, genitoplasty, hormonal treatment and fertility. Mothers’ understanding optimizes their children’s assistance. Objective/methods: To analyze the mothers’ understanding about the DSD condition, doubts, concerns, barriers to communication and repercussion in gender, sexual orientation and relationships in a cohort followed in reference centers in São Paulo (SP) and Ceará (CE), through an interview. Results: 112 mothers (72 from SP and 50 from CE) were interviewed. Mothers’ mean age was 35 y. The satisfaction related to the understanding about their children’s condition (on a scale from 1 to 5) was higher in the SP: medians of 4 (SP) and 3 (CE). Significant differences were evidenced between the numbers of mothers who knew the condition’s name, 56.3% (SP) and 38.6% (CE); who knew why the children had been affected by it, 38.5% (SP) and 16.7% (CE); and who knew the drugs’ function, 89.3% (SP) and 70.4% (CE). 70% to 83% of the mothers referred doubts, mainly related to the diagnosis and their feeling of guilt. Considering only children with atypical genitalia at birth (n:115), the difference was not diagnosed at hospital in 15% (4 from SP and 14 from CE). Pediatricians and obstetricians first communicated to mothers about the atypical genitalia in 73% of the reports. 70% (SP) and 41% (CE) of the mothers considered the first approach inappropriate. 89% of all mothers feel uncomfortable in talking to other people about the DSD condition and 68% experienced negative comments. Around 70% of mothers reported discomfort in exposing their children’s genitalia and 64% considered genitoplasty as an urgency. 47% referred that the DSD may influence the gender identity, 65.4% referred it may prejudice relationships and 33.3% believed it may influence on sexual orientation. The concern related to stigma was higher than related to fertility, genitalia appearance, relationships, treatments, gender identity and sexuality. Conclusion: Most of the mothers of DSD children, even in reference centers, showed unsatisfaction and lack of knowledge. The health team should be trained and the approach should consider the mothers’ perspectives and be appropriate to the cultural context. Educational actions may improve understanding and reduce the DSD stigma.

Sexual identity and sexual orientation are independent components of a person's sexual identity. These dimensions are most often in harmony with each other and with an individual's genital sex, although not always. The present review discusses the relationship of sexual identity and sexual orientation to prenatal factors that act to shape the development of the brain and the expression of sexual behaviours in animals and humans. One major influence discussed relates to organisational effects that the early hormone environment exerts on both gender identity and sexual orientation. Evidence that gender identity and sexual orientation are masculinised by prenatal exposure to testosterone and feminised in it absence is drawn from basic research in animals, correlations of biometric indices of androgen exposure and studies of clinical conditions associated with disorders in sexual development. There are, however, important exceptions to this theory that have yet to be resolved. Family and twin studies indicate that genes play a role, although no specific candidate genes have been identified. Evidence that relates to the number of older brothers implicates maternal immune responses as a contributing factor for male sexual orientation. It remains speculative how these influences might relate to each other and interact with postnatal socialisation. Nonetheless, despite the many challenges to research in this area, existing empirical evidence makes it clear that there is a significant biological contribution to the development of an individual's sexual identity and sexual orientation.

Non-therapeutic medical interventions on the bodies of children born with disorders of sex development (DSD)/intersex variations have been subject to increasing critical scrutiny. In response to recent criticism directed at the United Kingdom, and early moves to consider reform, we report on a freedom of information exercise that sought to evaluate whether National Health Service England is meeting international standards on optimal clinical management of DSD/intersex variations. The study explored what medical protocols are being followed to help inform potential reform, particularly with regard to non-therapeutic surgery. While the exercise revealed limited examples of promising practice, current protocols in the majority of Trusts appear unlikely to meet the complex needs of these children. We identify areas where significant improvement is needed, including data management, consistency in guideline use, composition of multidisciplinary teams and addressing disciplinary hierarchies within teams. These concerns sharpen criticisms of the lack of recognition of children’s rights in this context.

ABSTRACT
 Background. Disorders of Sex Development (DSD) is a condition where the development of sex chromosomes, gonads, and/or one’s anatomy is atypical. Its causes are often due to genetic mutations, although some are also linked to environmental risk factors. These multiple aetiologies lead to varied clinical findings, ranging from obvious ambiguous genitals to subtle ones in different regions worldwide, signalling a hint of geographical variability.
 Objective. This study wishes to observe the variations of clinical findings of DSD patients geographically in South Sumatera.
 Methods. This was an observational study using patients’ medical records in RSUP Dr. Mohammad Hoesin Palembang. Both inpatients and outpatients during five-year period span (2013-2017) with clinical findings suited DSD criteria based on Chicago Consensus in 2006 were included in this study.
 Results. One hundred and forty nine patients from cities and regencies in South Sumatera province and other provinces like Jambi, Lampung, Bengkulu, Bangka-Belitung, and even Riau were included in this study. Among sixteen clinical findings identified, hypospadias ranked first (59.06%), both in general, and in each regions as well. When set by side with other regions, Palembang city as the capital city of South Sumatera province displays twelve out of sixteen clinical findings documented in this study, showing a lot more variety.
 Conclusion. Every regions show difference clinical findings. Some regions housed clinical findings that were not found in other regions. However, hypospadias is the most commonly found clinical findings in all regions. It is suspected due to its correlation with certain environmental risks, that the occurence of it becomes rather often, compared to other DSD conditions. Future studies considering risk factors involvement in order to elucidate both differences and similarities found in each regions are strongly suggested.
 
 Keywords: Disorders of Sex Development, DSD, Geographical variations, South Sumatera

Introduction: The approach to Differences of Sexual Development (DSD) patients is complex. It involves discussion on karyotype, gonads, genital phenotypes, hormonal treatment, genitoplasty, sexual activity and fertility. A satisfactory understanding by the patients optimize the follow up and the acceptance of the condition. Objective/Methods: To analyze the understanding of DSD patients about their condition, the doubts and concerns, the barriers to communication and repercussion in gender, sexual orientation and relationships in a cohort of patients followed at a reference center, through a semi directed interview. Results: 57 patients were interviewed. The mean ages were 36.5y. Around 90% of all patients concluded at least the high school. Only 50% of all patients knew the condition’s name and how they were affected by it. Still 92% knew the treatment. 63% of the patients presented doubts, mainly related to diagnosis. The median level of satisfaction about the condition understanding (on a scale from 1 to 5) was 4. Most of the patients were first informed by doctors (65%) or mothers (27%). The mean age of diagnostic disclosure was 13 y among patients with atypical genitalia. However, 67% of them preferred be first informed in childhood. Around communication, 60% of them reported no dialogue at home about the condition, 82% feel uncomfortable in talking to other people and 57% experienced negative comments related to DSD. Only four 46,XY DSD presented gender dysphoria: 3 with partial gonadal dysgenesis (who were admitted at the reference service after genitoplasty) and one 5-α-reductase 2 deficiency. About affective relationships, 42% of the patients were single and 70% had already experienced sexual activity. The mean age at first sexual activity was 22y. 72% considered that condition influences negatively on relationships because the stigma, the genitalia appearance, the insecurity in sexual intercourse and fertility. The concern related to stigma was higher among patients with atypical genitalia. The patients’ self-evaluation (scale from 0 to 10) about their condition understanding improved after the interview: 6 to 8.9 (p<0.01). Conclusion: There is lack of knowledge about DSD among patients even treated in a referral center. The atypical genitalia arouses curiosity and stigma. Educational acts for patients, health team and community are needed to make DSD conditions popular, to improve the understanding and communication and to decrease the stigma.

Sex development relies on the sex-specific action of gene networks to differentiate the bipotential gonads of the growing fetus into testis or ovaries, followed by the differentiation of internal and external genitalia depending on the presence or absence of hormones. Differences in sex development (DSD) arise from congenital alterations during any of these processes, and are classified depending on sex chromosomal constitution as sex chromosome DSD, 46,XY DSD or 46,XX DSD. Understanding the genetics and embryology of typical and atypical sex development is essential for diagnosing, treating and managing DSD. Advances have been made in understanding the genetic causes of DSD over the past 10 years, especially for 46,XY DSD. Additional information is required to better understand ovarian and female development and to identify further genetic causes of 46,XX DSD, besides congenital adrenal hyperplasia. Ongoing research is focused on the discovery of further genes related to typical and atypical sex development and, therefore, on improving diagnosis of DSD.

LGBTQ cultural competence for pharmacists