After the trans brain: a critique of the neurobiological accounts of embodied trans* identities.

This paper critically analyses three main neurobiological hypotheses on trans* identities: the neurobiological theory about the origin of gender dysphoria, the neurodevelopmental cortical hypothesis, and the alternative hypothesis of self-referential thinking and body perception. In this study I focus then the attention on three elements: the issue of (de)pathologisation, the idea of the trans brain, and the aetiology of trans* identities. While the neurobiological theory about the origin of gender dysphoria and the neurodevelopmental cortical hypothesis claim the existence of the trans brain, each offering its own neurobiological depiction, the hypothesis of self-referential thinking and body perception doesn't postulate a distinctive neurobiological trait for all trans* people. I problematize both portrayals of the trans brain departing from the findings and conceptualizations of the paradigm shifting brain mosaicism. Unlike the hypothesis of self-referential thinking and body perception that keeps the question of causation open, both the neurobiological theory about the origin of gender dysphoria and the neurodevelopmental cortical hypothesis situate the origin of trans* identities in the neurobiological domain. I challenge the biological deterministic framework in which this aetiology is inscribed from a dynamic processual entanglement perspective. Finally, concerning the issue of (de)pathologisation of trans* identities, an evolution can be seen in each of the hypothesis and among them, from the least to the most depathologising. However, I question their complete departure from a pathologising framework.

Gender incongruence in Denmark, a quantitative assessment.

INTRODUCTION: The number of persons with gender incongruence referred to health care is increasing, but national data on the incidence of gender incongruence are lacking. The aim of this study was to quantify the development in number of individuals with gender incongruence over time and to estimate the national incidence in Denmark. MATERIAL AND METHODS: Historical descriptive cohort study. Individuals older than 18 years with legal sex-change in their person registration number were achieved from Statistics Denmark, and the National Health Register provided data on contact diagnoses related to gender-identity conditions. By combining these two data sources, we made estimates on incidence and incidence rates for individuals with gender incongruence in Denmark through a 41-year period 1980-2020. RESULTS: Through 1980-2020, the annual number of legal sex-changes increased in individuals assigned female at birth from 5 to approximately 170 and among individuals assigned male at birth from 10 to approximately 150. The cumulative number of legal sex-changes at the end of 2019 was 1275 assigned female at birth and 1422 assigned male at birth and 66% of the legal sex-changes were in individuals below 30 years. Correspondingly, the annual number of contacts with the healthcare system due for gender-identity-related conditions increased from 30 during 1990-1999 to around 500 in 2017 (both genders combined), with a 10-fold increase from 2010 to 2017. CONCLUSIONS: The number of legal sex-changes and healthcare contacts due to gender-identity-related diagnoses increased substantially over the last 40 years with a more than 10-fold increase during the last decade. This calls for research on possible explanations for this increase, for research on the short-term and long-term health consequences of hormonal and surgical treatment regimens and for ensuring adequate healthcare facilities.

Tratamiento hormonal y sus complicaciones en el paciente con disforia de género / Hormonal treatment and complications in patients with gender dysphoria

RESUMEN Introducción: Las personas con disforia de género sienten incongruencia entre el sexo con el que nacen y aquel al que sienten pertenecer, por lo que necesitan adaptar su cuerpo a este último, y uno de los pilares en el logro de ese propósito es el empleo del tratamiento hormonal cruzado. Objetivo: Identificar los esquemas terapéuticos más empleados en la automedicación y en el manejo especializado, y sus complicaciones en pacientes con disforia de género. Métodos: Se revisaron 78 historias, de las cuales 76 correspondían a transexuales hombre-mujer, atendidos en el periodo 2012-2017 en la Consulta Nacional de Atención Integral a Personas Transgénero. Se recuperó información relacionada con los esquemas terapéuticos utilizados, tanto durante la automedicación como durante el manejo por el endocrinólogo, y las complicaciones. Para el análisis de los datos se obtuvieron distribuciones de frecuencia de las variables cualitativas, media y desviación estándar de las cuantitativas. Resultados: La frecuencia de pacientes que se autoadministraron hormonas antes de comenzar la atención especializada fue de 82,9 por ciento. El medicamento más utilizado en la automedicación fue la cipresta (acetato de ciproterona 2 mg/etinilestradiol 50 µg) en el 90,5 por ciento de los casos. De los tratamientos indicados por el endocrinólogo al inicio de la atención; al 50,0 por ciento se les administró cipresta más androcur (acetato de ciproterona 50 mg) de 1 a 2 tabletas de cada uno, mientras que al 39,5 por ciento estrógenos conjugados asociado a androcur, igualmente de 1 a 2 tabletas de cada uno de estos medicamentos. En cuanto a la frecuencia de complicaciones como consecuencia del tratamiento hormonal, el 40,7 por ciento de los casos tuvo en algún momento niveles elevados de prolactina, al 26,3 por ciento los niveles de triglicéridos se le elevaron luego de iniciada la terapia. Conclusiones: La mayoría de los pacientes acuden por primera vez automedicados. Los medicamentos más utilizados son la cipresta y el androcur. La complicación más frecuente como consecuencia del tratamiento es la hiperprolactinemia(AU)

ABSTRACT Introduction: Persons with gender dysphoria feel incongruity between the sex they are born with and the one they feel they belong to, therefore they need to adapt their body to the latter, and one of the pillars in achieving that purpose is the use of cross hormonal treatment. Objective: To identify the therapeutic schemes most used in self-medication and specialized management, and their complications in patients with gender dysphoria. Methods: Seventy eight medical records were reviewed. Seventy six of them corresponded to male-female transsexuals, assisted in the 2012-2017 period at the National Consultation of Comprehensive Care to Transgender Persons. The study team recovered information related to the therapeutic schemes used, both during self-medication and during the endocrinological management, as well as complications. Frequency distributions of the qualitative variables, mean and standard deviation of the quantitative variables were obtained for data analysis. Results: The frequency of patients who self-administered hormones before beginning specialized care was 82.9 percent. The most commonly medication used in self-medication was cypress (cyproterone acetate 2 mg / ethinylestradiol 50 µg) in 90.5 percent of cases. Out of the treatments indicated by the endocrinologist at the beginning of the care; 50.0 percent were given cypress plus androcur (50 mg cyproterone acetate) of 1 to 2 tablets each, while 39.5 percent conjugated estrogens associated with androcur, also 1 to 2 tablets of each of these medications. Regarding the frequency of complications as a result of hormonal treatment, 40.7 percent of the cases had elevated prolactin levels at some time, and triglyceride levels increased to 26.3 percent after the start of therapy. Conclusions: Most patients who come for the first time, are self-medicated. The most used medications are cipresta and androcur. The most frequent complication is hyperprolactinemia as a consequence of treatment(AU)

Sexual Identity Disorder and Psychosis in Klinefelter Syndrome: A Synthesis of Literature and a Case Report.

Klinefelter syndrome (KS) 47, XXY is the most frequent chromosomal abnormality causing hypogonadism in humans. This chromosomal abnormality of number in its classical form called homogeneous (supernumerary X) is generally the result of a meiosis accident. Several studies have suggested that individuals with KS are at greater risk of developing various psychiatric disorders, including depression and schizophrenia. The diagnosis is made based on subnormal testosterone with high pituitary gonadotropins and confirmed by determining the karyotype on a blood simple. We did a literature review using an electronic search in three databases: Pubmed/MEDLINE, Google Scholar, and PsychInfo. We found that since 1989, seven case reports with KS and mental disorders with similar and different characteristics of our case illustration of a patient with KS and psychosis were published.

Analyses of karyotype by G-banding and high-resolution microarrays in a gender dysphoria population.

Gender Dysphoria is characterized by a marked incongruence between the cerebral sex and biological sex. To investigate the possible influence of karyotype on the etiology of Gender Dysphoria we carried out the cytogenetic analysis of karyotypes in 444 male-to-females (MtFs) and 273 female-to-males (FtMs) that attended the Gender Identity Units of Barcelona and Málaga (Spain) between 2000 and 2016. The karyotypes from 23 subjects (18 MtFs and 5 FtMs) were also analysed by Affymetrix CytoScan™ high-density (HD) arrays. Our data showed a higher incidence of cytogenetic alterations in Gender Dysphoria (2.65%) than in the general population (0.53%) (p < 0.0001). When G-banding was performed, 11 MtFs (2.48%) and 8 FtMs (2.93%) showed a cytogenetic alteration. Specifically, Klinefelter syndrome frequency was significantly higher (1.13%) (p < 0.0001), however Turner syndrome was not represented in our sample (p < 0.61). At molecular level, HD microarray analysis revealed a 17q21.31 microduplication which encompasses the gene KANSL1 (MIM612452) in 5 out of 18 MtFs and 2 out of 5 FtMs that corresponds to a copy-number variation region in chromosome 17q21.31. In conclusion, we confirm a significantly high frequency of aneuploidy, specifically Klinefelter syndrome and we identified in 7 out of 23 GD individuals the same microduplication of 572 Kb which encompasses the KANSL1 gene.

Gender dysphoria in Klinefelter's syndrome: three cases.

BACKGROUND: Previous reports have found the incidence of gender dysphoria in Klinefelter's patients greater than in the general male population. METHODS: A cohort of patients with gender dysphoria was reviewed. RESULTS: Of the 220 patients with gender dysphoria, three had Klinefelter's syndrome. CONCLUSIONS: These three reports are further examples of gender dysphoria in Klinefelter's syndrome. The role of biological factors in gender identity is affirmed. Caution is urged in prescribing testosterone.

Brain functional connectivity patterns in children and adolescents with gender dysphoria: Sex-atypical or not?

Various previous studies have reported that brains of people diagnosed with gender dysphoria (GD) show sex-atypical features. In addition, recent functional magnetic resonance imaging studies found that several brain resting-state networks (RSNs) in adults with GD show functional connectivity (FC) patterns that are not sex-atypical, but specific for GD. In the current study we examined whether FC patterns are also altered in prepubertal children and adolescents with GD in comparison with non-gender dysphoric peers. We investigated FC patterns within RSNs that were previously examined in adults: visual networks (VNs), sensorimotor networks (SMNs), default mode network (DMN) and salience network. Thirty-one children (18 birth assigned males; 13 birth assigned females) and 40 adolescents with GD (19 birth assigned males or transgirls; 21 birth assigned females or transboys), and 39 cisgender children (21 boys; 18 girls) and 41 cisgender adolescents (20 boys; 21 girls) participated. We used independent component analysis to obtain the network maps of interest and compared these across groups. Within one of the three VNs (VN-I), adolescent transgirls showed stronger FC in the right cerebellum compared with all other adolescent groups. Sex differences in FC between the cisgender adolescent groups were observed in the right supplementary motor area within one of the two SMNs (SMN-II; girls>boys) and the right posterior cingulate gyrus within the posterior DMN (boys>girls). Within these networks adolescent transgirls showed FC patterns similar to their experienced gender (female). Also adolescent transboys showed a FC pattern similar to their experienced gender (male), but within the SMN-II only. The prepubertal children did not show any group differences in FC, suggesting that these emerge with aging and during puberty. Our findings provide evidence for the existence of both GD-specific and sex-atypical FC patterns in adolescents with GD.

Psychomedical care in gender identity dysphoria during adolescence. / Atención psicomédica en la disforia de identidad de género durante la adolescencia.

INTRODUCTION: In the clinical literature, the term gender dysphoria is used to define the perception of rejection that a person has to the fact of being male or female. In children and adolescents, gender identity dysphoria is a complex clinical entity. The result of entity is variable and uncertain, but in the end only a few will be transsexuals in adulthood. OBJECTIVES: METHODOLOGY: RESULTS AND CONCLUSIONS.

Transgender people: health at the margins of society.

In this paper we examine the social and legal conditions in which many transgender people (often called trans people) live, and the medical perspectives that frame the provision of health care for transgender people across much of the world. Modern research shows much higher numbers of transgender people than were apparent in earlier clinic-based studies, as well as biological factors associated with gender incongruence. We examine research showing that many transgender people live on the margins of society, facing stigma, discrimination, exclusion, violence, and poor health. They often experience difficulties accessing appropriate health care, whether specific to their gender needs or more general in nature. Some governments are taking steps to address human rights issues and provide better legal protection for transgender people, but this action is by no means universal. The mental illness perspective that currently frames health-care provision for transgender people across much of the world is under scrutiny. The WHO diagnostic manual may soon abandon its current classification of transgender people as mentally disordered. Debate exists as to whether there should be a diagnosis of any sort for transgender children below the age of puberty.

A Conceptual Overview and Commentary on Gender Dysphoria.

Gender Dysphoria is a distressed state of mind that is of interest to psychiatrists, including forensic psychiatrists. Forensic matters can be best addressed only after one has a good appreciation of relevant psychiatric knowledge and concepts. In this commentary I review the nature of Gender Dysphoria, its relationship to cross-dressing and erotic arousal, and the question of whether it should be thought of as a psychiatric disorder. I also review the complexity of sex and gender; alternative conceptualizations of Gender Dysphoria, its etiology, its multicultural history, and its typical course over time in a given individual. Finally, I summarize treatment options, treatment outcomes, and difficulties of treating Gender Dysphoria within an inmate population.

[Biological etiologies of transsexualism]. / Le point sur les étiologies biologiques de la transsexualité.

Transsexualism or gender dysphoria is a disorder of sexual identity of unknown etiology. At the biological level, one assumes atypical brain development during certain periods of its formation (genesis) notably during embryogenesis, as a result of altered hormonal influence and a particular genetic polymorphism. This article summarizes the research conducted to date in these three areas only, excluding psycho-social and environmental factors.

Gender Identity and Sex Role of Patients Operated on for Bladder Exstrophy-Epispadias.

PURPOSE: We evaluated whether genital deformity has an impact on gender identity and sex role in patients operated on for bladder exstrophy-epispadias complex. MATERIALS AND METHODS: A total of 62 adolescents and adults operated on for bladder exstrophy-epispadias complex were mailed questionnaires evaluating gender identity (Gender Identity/Gender Dysphoria Questionnaire for Adolescents and Adults) and sex role (Bem Sex Role Inventory). Of the patients 33 responded and the results were compared with 99 gender matched controls. RESULTS: On the gender identity questionnaire female patients had median scores similar to those of their gender matched controls (4.93 vs 4.89, p = 0.412) but in males the score was lower compared to controls (4.87 vs 4.96, p = 0.023), indicating somewhat more conflicted gender identity. However, no patient had gender dysphoria. Female sex role index was higher in female patients vs controls (5.9 vs 5.3, p = 0.003) but was comparable between male patients and controls (5.2 vs 5.0, p = 0.459). Masculine sex role indices were comparable between female patients and controls as well as between male patients and controls. Of 32 patients 17 were considered to have androgynous sex role, as were 24 of 97 controls (p = 0.004). The exact diagnosis (bladder exstrophy or epispadias) or dissatisfaction with appearance of the genitals had no impact on gender identity or on sex role indices. CONCLUSIONS: Male patients had lower gender identity scores compared to controls and female sex role was enhanced among female patients. Androgynous sex role was more common in patients vs controls. Gender dysphoria was not noted in any patient.

Gender dysphoria in adolescence.

Adolescents presenting with gender-related concerns are increasingly seeking support from providers from a variety of disciplines within health care settings across the world. For those treating young people who meet the criteria for the DSM 5 diagnosis of gender dysphoria (GD), complex decisions in clinical care are common. Defining best practice with this population with respect to interventions that span mental health, physical, and surgical domains can be challenging, given a relative dearth of empirical data available; yet practice guidelines have emerged from different professional organizations which can aid with this. For this review paper, a broad literature search was performed to identify relevant studies pertaining to the care of adolescents with GD. In addition, an overview of trends in clinical practice, including shifts in conceptualization of how clinicians and patients define care that is considered affirming when working with this population, is described. This paper explores the characteristics of referral patterns to specialized clinics, provides a brief overview of gender identity development in adolescence, and then describes the phenomenology of known aetiological factors and co-occurring psychiatric issues in adolescents with GD. Additionally, clinical management considerations that detail assessment aims and common treatment interventions across disciplines will be explored.

Gender Dysphoria in Adults.

Gender dysphoria (GD), a term that denotes persistent discomfort with one's biologic sex or assigned gender, replaced the diagnosis of gender identity disorder in the Diagnostic and Statistical Manual of Mental Disorders in 2013. Subtypes of GD in adults, defined by sexual orientation and age of onset, have been described; these display different developmental trajectories and prognoses. Prevalence studies conclude that fewer than 1 in 10,000 adult natal males and 1 in 30,000 adult natal females experience GD, but such estimates vary widely. GD in adults is associated with an elevated prevalence of comorbid psychopathology, especially mood disorders, anxiety disorders, and suicidality. Causal mechanisms in GD are incompletely understood, but genetic, neurodevelopmental, and psychosocial factors probably all contribute. Treatment of GD in adults, although largely standardized, is likely to evolve in response to the increasing diversity of persons seeking treatment, demands for greater client autonomy, and improved understanding of the benefits and limitations of current treatment modalities.

Hypersexuality, Paraphilic Behaviors, and Gender Dysphoria in Individuals with Klinefelter's Syndrome.

INTRODUCTION: An increased risk of autistic traits in Klinefelter syndrome (KS) has been reported. In addition, some studies have shown an increased incidence of gender dysphoria (GD) and paraphilia in autism spectrum disorder. AIM: The aim of this study was to evaluate the presence of (i) paraphilic fantasies and behaviors; and (ii) GD symptomatology in KS. METHODS AND MAIN OUTCOMES MEASURES: A sample of 46 KS individuals and 43 healthy male controls (HC) were evaluated. Subjects were studied by means of several psychometric tests, such as Autism Spectrum Quotient (AQ) and Reading the Mind in the Eyes Revised (RME) to measure autistic traits, Gender Identity/GD questionnaire (GIDYQ-AA), and Sexual Addiction Screening Test (SAST). In addition, body uneasiness psychopathological symptoms were assessed using Symptom Checklist 90 Revised (SCL-90-R). The presence and frequency of any paraphilic fantasy and behavior was assessed by means of a clinical interview based on Diagnostic and Statistical Manual of Mental Disorders, 5th Edition criteria. Finally, all individuals included were assessed by Wechsler Adult Intelligence Scale-Revised to evaluate intelligence quotient (IQ). Data from a subsample of a previous published series of male to female GD individuals, with the battery of psychological measures useful to provide a psychopathological explanation of GD in KS population available, was also considered. RESULTS: When compared with HC, KS reported significantly lower total, verbal and performance IQ scores and higher SCL-90 obsession-compulsive symptoms (all P < 0.001). In line with previously reported findings, KS showed higher autistic traits according with both RME and AQ tests (P < 0.001). With respect to sexuality, KS showed a significant higher frequency of voyeuristic fantasies during masturbation (52.2% vs. 25.6%) and higher SAST scores (P = 0.012). A mediation role of obsessive symptoms on the relationship between Klinefelter and SAST was confirmed (unstandardized estimate b = 2.75, standard error = 0.43 P < 0.001). Finally, KS individuals showed significantly higher gender dysphoric symptoms than HC (P = 0.004), which were mediated by the presence of autistic traits (Sobel's test; P < 0.05). CONCLUSIONS: KS is associated with hypersexuality, paraphilic behaviors, and GD, which were mediated by obsessive-compulsive and autistic traits.