DSM-5 Diagnostic Criteria

In 2013, the diagnosis for gender dysphoria (GD) was renamed from gender identity disorder (GID) after criticisms that the latter term was stigmatizing. The DSM-5 also moved this diagnosis out of the sexual disorders category and into a category of its own. In order to be diagnosed with gender dysphoria (GD), a person must experience, for at least six months, a noticeable difference between how they experience/express their own gender and their sex assigned at birth. Symptoms related to this difference may include the expressed desire for others to treat or perceive them as another gender; discomfort with genitals or sex characteristics; wishing these genitals or sex characteristics were different or aligned with another gender; and/or a strong sense of being another gender despite how others perceive them. This discrepancy must cause significant impairment in social, occupational, school, or daily life functioning.

Symptoms

Figure 1. A preference for opposite-sex typical toys may be a symptom of gender dysphoria.

The cardinal symptom of gender dysphoria (GD) is distress stemming from an incongruence between a person’s experienced gender and assigned sex/gender. Symptoms of GD in children include preferences for opposite-sex typical toys, games, or activities; great dislike of their own genitalia; and a strong preference for playmates of the opposite sex. Some children may also experience social isolation from their peers, anxiety, loneliness, and depression. According to the American Psychological Association, transgender children are more likely to experience harassment and violence in school, foster care, residential treatment centers, homeless centers, and juvenile justice programs than other children.^[1] The diagnosis for children has been separated from that for adults. The creation of a specific diagnosis for children reflects the lesser ability of children to have insight into what they are experiencing or to express it in the event that they have insight. In order for children to be assigned this diagnostic category, they must verbalize their desire to become the other gender.

In adolescents and adults, symptoms include the desire to be and to be treated as the other gender. Adults with GD are at increased risk for stress, isolation, anxiety, depression, poor self-esteem, and suicide. Studies indicate that transgender people have an extremely high rate of suicide attempts; one study of 6,450 transgender people in the United States found 41% had attempted suicide, compared to a national average of 1.6%. It was also found that suicide attempts were less common among transgender people who said their family ties had remained strong after they came out, but even transgender people at comparatively low risk were still much more likely to have attempted suicide than the general population.^[2] Transgender people are also at heightened risk for eating disorders and substance abuse.

Gender Dysphoria and Transgender Individuals

Many people who are diagnosed with gender dysphoria identify as transgender, genderfluid (a gender that varies over time), or otherwise gender non-conforming (anyone whose appearance and behavior does not reflect the gender roles expected of them) in some way; however, not everyone who identifies as transgender or gender non-conforming experiences gender dysphoria.

Transgender or transsexual is an umbrella term for people whose internal experience of gender does not match their sex assigned at birth (normally based on first and secondary sex characteristics). Transgender people may experience discomfort or distress due to their gender not aligning with their sex, and therefore wish to transition to being the gender they identify with.

Figure 2. Recognizing spaces as gender-neutral is important in helping transgender and non-binary individuals feel included.

Some transgender people feel this way from a very young age, while others go through a period of questioning before realizing they are transgender. Transgender people can be men, women, or non-binary (a spectrum of gender identities that are not exclusively masculine or feminine‍). They can have any sexual orientation, express their gender through their appearance in any way, and may or may not fit into society’s views of gender. Every transgender person has different desires for what they want (or do not want) to include in their transition, including surgery and other medical procedures. Transgender people who do not plan to have surgery are sometimes referred to as non-op; transsexual is sometimes used to refer to only those who do. It is important not to make assumptions about what is, was, or will be involved in any individual person’s transition. Transition is any action a transgender person takes in order for the external world to better recognize and reflect their experienced gender. This can range from asking people to use different names and pronouns, to a change in dress or appearance, to extensive gender-affirming surgery. The three main forms of transition are social, legal, and medical, although all of these are broad categories that can reflect dozens of different possible actions.

A post-transition specifier was also added for transgender individuals who have transitioned to their experienced gender (i.e., undergone gender affirming hormonal or surgical procedures to alter their body in a way that matches their experienced gender identity). This specifier helps to ensure post-transition individuals can continue to receive ongoing hormonal or other treatment as needed.

Early and Late-Onset Gender Dysphoria

Gender dysphoria in those assigned male at birth tends to follow one of two broad trajectories: early-onset or late-onset. Early-onset gender dysphoria is behaviorally visible in childhood. Sometimes gender dysphoria will desist in this group and they will identify as gay or homosexual for a period of time, followed by recurrence of gender dysphoria. In adulthood, this group is usually sexually attracted to members of the sex they were assigned at birth.

Late-onset gender dysphoria does not include visible signs in early childhood, but some report having had wishes to be the opposite sex in childhood that they did not report to others. Trans women who experience late-onset gender dysphoria will usually be sexually attracted to women and may identify as lesbians. It is common for people assigned male at birth who have late-onset gender dysphoria to engage in cross-dressing with sexual excitement. In those individuals who are assigned female at birth, early-onset gender dysphoria is the most common course. This group is usually sexually attracted to women. Trans men who experience late-onset gender dysphoria will usually be sexually attracted to men and may identify as gay.^[3]

Epidemiology

Gender dysphoria occurs in one in 30,000 individuals assigned male at birth and one in 100,000 individuals assigned female at birth.^[4] It is estimated that about 0.005% to 0.014% of individuals assigned male at birth and 0.002% to 0.003% of individuals assigned female at birth would be diagnosed with gender dysphoria, based on 2013 diagnostic criteria, though this is considered a modest underestimate.^[5] Research indicates people who transition in adulthood are up to three times more likely to be assigned male at birth, but that among people transitioning in childhood the sex ratio is close to 1:1.^[6]

According to an analysis of national probability samples in 2016, there were 390 per 100,000 adults who were transgender. However, it also suggested that future surveys will probably observe a higher prevalence.^[7]

According to a recent national survey, 1.4 million individuals (0.6%) in the United States identify as transgender. It is also believed that these numbers are underrepresented due to the social stigma. Also, a part of this population might not want to engage in studies; hence, the true prevalence remains higher than what is reported. Nevertheless, an increasing shift is observed in this population seeking health care over the last decade.^[8]

Substance use disorders are commonly found in individuals with GD, with some studies showing 28% having reported problems with substance use. In a recent study, about 48.3% of a study population had suicidal ideation, and 23.8% had attempted suicide at least once in their lifetime. Although, they were not able to appreciate any clinically significant difference between male-to-female (MTF) or female-to-male (FTM) groups. Anxiety, depression, and personality disorders are also common comorbidities. One study by Madeddu in 2009 found that personality disorder was comorbid in 52% of cases and the most common was Cluster B personality disorders.^[9]

Etiology

The etiology of GD remains unclear, but it is thought to originate from a complex biopsychosocial link. Individuals born with congenital adrenal hyperplasia (a condition that involves excessive or deficient production of sex steroids and can alter the development of primary or secondary sex characteristics in some affected infants, children, or adults) or androgen insensitivity syndrome (an intersex condition) are usually brought up and socialized as girls, even though they often cross-dress and have an innate sense of belonging to the opposite sex. These changes are more evident around and during puberty. This is one of the well-established biological links.

Associations have also been found with in-utero exposure to phthalates in plastics and polychlorinated biphenyls. They are known to disrupt the regular endocrinology of sex determination before birth. Phthalates can lead to an increase in total fetal testosterone levels, which in turn increases the risk of autism spectrum disorder as well as GD.

GD has been found to have a higher prevalence in people with psychiatric illnesses such as schizophrenia and autism spectrum disorder. The link seems to be neuroanatomical and needs more research. There was growing evidence those on the autism spectrum have a higher prevalence of GD; however, certain studies seek to disprove this hypothesis.

There is also growing evidence that childhood abuse, neglect, maltreatment, and physical or sexual abuse may be associated with GD. Individuals reporting higher body dissatisfaction and GD have a worse prognosis in terms of mental health. And as mentioned above in epidemiology, individuals with GD are found to have higher rates of depression, suicidal ideations, and substance use. Neuroanatomical links in those with GD have been found in certain studies, including a faulty neuronal development and differentiation in the hypothalamic links. Functional neuroimaging has shown variations in hemispheric ratios and amygdala connectivity according to gender. A few case reports have reported some association of GD to maternal toxoplasma infection, although additional data is needed for further evidence.

A genetic association is also identified as one of the causes of GD. Heritability and familiarity of GD have been identified: for instance, higher prevalence in monozygotic twins than dizygotic twins. Some alleles (CYP17 and CYP17 T-34C) have also been found to have an association, although it is difficult to say if it is merely association or causation.