1 Gender Dysphoria: A Disconnection Between Gender Identity and Birth Sex

Many people treat the terms “sex” and “gender” as though they were synonymous. Biological sex comprises physical attributes such as external genitalia and internal reproductive structures such as gonads, sex chromosomes, and sex hormones. Gender, on the other hand, can be a little less straightforward and is not inherently or exclusively associated to one’s physical anatomy. Gender is a product of the complex interrelationship between an individual’s biological sex and one’s gender identity, which is an internal sense of self as male, female, both, or neither.

Most youngsters are cognizant of their gender between the ages 18 months and 3 years, and by the beginning of school years, most children will have achieved a sense of their gender identity and a certain degree of gender constancy, at which time children begin to realize that gender is a permanent state that cannot be altered by a change of clothing or activity (Paikoff and Brooks-Gunn 1991). By the age of 4 years, children typically outline preferences for the company of their same-sex peers, and by this time, boys and girls differ in interests and types of group activities and behaviors (Rosenfield and Wasserman 1993).

Gender identity can be the same or different from one’s birth-assigned sex. Generally, an individual’s gender identity correlates with the gender roles or attributes that a given society considers appropriate for males and females. Occasionally however, for some individuals, this is not the case. Gender dysphoria (GD) is a clinical condition where the individual experiences a persistent sense of discontentment over the incongruence between their experienced or expressed gender and their birth sex leading to significant distress to the person, an impairment of social or occupational functioning, and a desire to live a cross-gender life (Diagnostic and Statistical Manual of Mental Disorders [DSM-5] (American Psychiatric Association 2013)). It is estimated that between 0.005 % and 0.014 % of natal males and 0.002–0.003 % of natal females would be diagnosed with GD, based on current diagnostic criteria (Zucker and Lawrence 2009). Expressions of GD include a preference for cross-dressing (dressing up in clothes typically worn by the opposite sex as defined by the person’s cultural norms) and for stereotypical cross-gender roles and, additionally in children, make-believe play and a strong inclination for playmates of the opposite sex.

2 Gender Dysphoria (GD) and Autism Spectrum Disorder (ASD)

Interestingly, a handful of case studies (Landen and Rasmusen 1997; Tateno et al. 2008; Mukaddes 2002; Gallucci et al. 2005; Kraemer et al. 2005) attest to a comorbid presentation of ASD with GD (see Table 10.1), while empirical reports (De Vries et al. 2010; Jones et al. 2012; Pasterski et al. 2014) indicate elevated GD rates within the ASD population.

Table 10.1 Summary of case studies on the comorbid presentation of ASD and GD
Full size table

When using the Diagnostic Interview for Social and Communication Disorders (Leekam et al. 2002), a group of Dutch researchers found an incidence of 7.8 % of ASD among a sample of children and adolescents referred to a gender identity clinic for management of their GD (N = 204, M age  = 10.8 years, SD = 3.58). This rate is much higher than the prevalence rate of ASD in the general population which ranges from 0.6 % to 2 % (Fombonne 2005; Blumberg et al. 2013). Similarly, employing the Autism Spectrum Quotient (AQ, Baron-Cohen et al. 2003), a standardized test to measure autistic characteristics, Jones et al. (2012) demonstrated that 14.8 % of female adults with GD (N = 61) and 3 % of male adults with GD (N = 198) met the criteria for a potential diagnosis of ASD, while Pasterski et al. (2014) also testified to the ASD-GD association among adults in their sample, where 7.1 % of the females with GD (N = 28) and 4.7 % of males with GD (N = 63) met diagnostic criteria according to the recommended cutoff scores on the AQ.

While some research has assessed for ASD traits in a population referred for GD, newer research by Strang et al. (2014) measured gender variance, defined as the desire to be the opposite gender, in a population of children with ASD (N = 147). On analyzing parental responses to the item “Wishes to be the opposite sex” on the Child Behavior Checklist (CBCL), gender variance was 7.59 times higher in the ASD group than in the non-ASD participants, which comprised of a community sample (N = 165) and normative data from the non-referred standardization sample of the CBCL (N = 1,605). Bejerot and Eriksson (2014) similarly demonstrated a gender-atypical pattern (males were less masculine and females were less feminine) in their sample of 50 adults with ASD when compared to 53 typically developing individuals.

George and Stokes (submitted) measured gender-dysphoric symptomology in an international population of adults diagnosed with ASD (N = 220), using a mixed methods approach. In their quantitative study, using the Gender Dysphoria and Gender Identity Questionnaire (GIDQ-AA, Deogracias et al. 2007), results demonstrated that individuals with ASD were significantly more likely to report experiencing gender-dysphoric symptoms than were typically developing individuals (Cohen’s d = 0.63). In a subsequent qualitative analysis investigating gender-related attitudes among 94 adults with ASD, female participants reported that it was easier to identify with males and that they were not like other women in that “vulnerability, nurturing and intimacy is not natural to me” and that men were more “straightforward, easier to understand,” “blunt,” and “did not bother with emotional stuff.” Male participants also conceded to feeling “sensitive, shy and introverted,” “not fitting the typical male stereotype,” and not enjoying sports and “stereotypical male socializing activities” but divulged that their disconnection from other men was not primarily due to gender issues, but due to ASD-related issues. Taken together, an androgynous self-concept, gender ambivalence, and dissatisfaction with culturally dictated gender roles emerged as dominant themes in the discourse.

3 Why Would Gender Dysphoria Be More Prevalent in ASD?

3.1 Hormonal Factors and GD

The coexistence of ASD and GD is worth noting as the prevalence of both conditions is reasonably low. Reasons for this comorbidity have been a topic of emerging interest, and several plausible speculations have been proposed to account for this association. Some researchers have hypothesized that perhaps ASD is the driver that predisposes some individuals to GD (Kraemer et al. 2005). A neurobiological mechanism might provide some explanation. The “extreme male brain” theory of ASD (Baron-Cohen 2002) argues that fetal testosterone or fT is a strong candidate for contributing to sexually dimorphic cognition and behavior and may present a risk factor for conditions characterized by social impairments, such as ASD (Knickmeyer and Baron-Cohen 2006), where individuals with ASD may demonstrate characteristics generally associated with masculinity, such as an overdevelopment of logical thinking, low emotionality, and high level of perseverance. Elevated levels of fT are positively correlated with autistic traits and with masculinizing neural development (Auyeung et al. 2009). The hypothesis that fT levels influence human sexual behavior derives from a large body of research on the neural and behavioral effects of early hormone manipulations among rodents and nonhuman primates (Hines et al. 2004). Castrated males show feminized cognition and behaviors, while conversely females treated with testosterone show corresponding masculinization (Knickmeyer et al. 2005; Berenbaum et al. 2009).

Information on the influence of fT on neural and behavior development in humans may be derived from clinical literature where the amount or activity of fT is disrupted, such as among women with congenital adrenal hyperplasia (CAH) and men with complete androgen insensitivity syndrome (CAIS). The prenatal exposure to unusually high levels of fT among girls with CAH is hypothesized to influence sexual development. Girls with CAH show increased male-typical play behaviors (Hines et al. 2004), masculinized gender identities (Dessens et al. 2005), and homosexual and bisexual orientations (Meyer-Bahlburg et al. 2008). Interestingly, an increased number of autistic traits as measured on the AQ were also noted in this group (Knickmeyer et al. 2006). The opposite pattern of a female-typical psychosexual development is demonstrated by men with CAIS, an X-linked disorder characterized by a complete absence of functional androgen receptors (Hines et al. 2004). These pathways provide an explanation for GD among females with ASD; the predisposing dual role of elevated levels of fT in ASD and in male gender identity development (Gooren 2006) points to one possible neurohormonal explanatory pathway for the co-occurrence of GD and ASD among females, where a primarily masculine cognition and self-perception in ASD may be lead females with ASD to interpret themselves as masculine relative to their same-sex peers, and this then could pave the way to the development of GD.

However, when viewed through the same theoretical lens, elevated fT levels do not provide a very forthright explanation for increased rates of GD among males within ASD. Higher levels of fT would be expected to hypermasculinize the male brain and thus allow for a pronounced male gender identity. Given the association between elevated levels of fT in ASD, why then would males with ASD demonstrate higher rates of GD, when the converse would be expected or, at the least, similar rates of GD among ASD and TD males?

MacCulloch and Waddington (1981) and Pillard and Weinrich (1987) have suggested that human sexual orientation depends on, among other factors, differences in the degree of in utero masculinization and behavioral defeminization of the brain, where the “default brain” is believed to be female. Support for such a model comes from observations on gender-dependent cognitive abilities that are mostly female-like in homosexual males (Robinson and Manning 2000). Research into the existence of neuroendocrinological differences between homosexual and heterosexual men may be reflective of a partially female-differentiated neural circuitry in homosexual males (Dorner et al. 1975; Gladue et al. 1984). While this finding has prompted the assumption that homosexual males have been exposed to low levels of fT, a number of researchers have challenged this idea (McFadden and Champlin 2000; Rahman and Wilson 2003; Williams et al. 2000; Jenkins 2010). Studies looking into somatic features such as finger length ratios (Robinson and Manning 2000) and male genitalia proportions (Bogaert and Hershberger 1999) tend to support the conclusion that elevated levels of prenatal testosterone might predispose the male fetus to homosexuality.

More recent literature has found a relationship between another sexually dimorphic sex hormone, the anti-Müllerian hormone (AMH), and ASD, where lower levels of AMH have been associated with increased ASD symptoms in males (Pankhurst and McLennan 2012). AMH is believed to play a role in the masculinization of or the defeminization of the male fetus (Behringer et al. 1994), and whether lower levels of AMH contribute in any way to a less masculinized brain, which could then lend itself to a higher risk for gender dysphoria, has not yet been researched, but provides a promising avenue for future research.

Given the shared pathways between elevated fT and ASD, elevated fT and male homosexuality, the predilection for a higher rate of female-type cognition, and behaviors among male homosexuals, together with the higher prevalence rates of male homosexuality in ASD (George and Stokes submitted), perhaps the correlations between the different variables in this biological model could provide one possible instructive pathway for the high rates of GD among ASD males.

To limit a construct as complex as gender identity to biological factors would be overly reductionistic. While there is no consensus in the scientific community on why a person develops a particular gender identity (American Psychological Association, 2013), an individual’s gender identity would most likely be an interaction of their physiology with their social environment. Specifically, certain features characteristic to ASD may increase the risk for GD (VanderLaan et al. 2015).

3.2 ASD-Specific Features and GD

The general consensus among researchers looking into the ASD-GD association was that “autistic-like” traits were possibly driving GD. It is speculated that sensory issues characteristic of ASD may hinder what is perceived as normative gendered behavior. Categorizing individuals into a binary gender system on the conjecture of clothing may not be of much relevance to many individuals with ASD, where the primary focus may sometimes be on a preference for specific sensory input, featural details, or tactile sensation (Tateno et al. 2008; de Vries et al. 2010) and not social norms. Consistently, in George and Stokes’s (submitted) study, male responses indicated that they preferred softer, glittery, and silkier fabrics, not because they were “girly” clothes, but because “of my autism.” Female responses similarly suggested that “girly clothes were tight and itchy,” “makeup felt terrible,” and “men’s clothes were comfortable, straightforward, and practical.”

Communication difficulties are characteristic of ASD, and some individuals with ASD may have challenges recognizing gender due to linguistics. Since gender relies on semantic factors (Eckert and McConnell-Ginet 2003; Labov 2011), language delays during childhood may also interfere with a developing sense of gender-related discourse, where, without words for “boy-girl,” “pink-blue,” or “trucks-dolls,” for example, or without employing these words in appropriate contexts, one may not develop a clear understanding of gendered behavior.

It has been suggested that another ASD-specific feature that may play a role in the ASD-GD association is the frequent presence of obsessive compulsive behaviors in ASD (Gallucci et al. 2005). The DSM-5 includes intense/obsessional interests and repetitive behaviors as part of the diagnostic criteria for ASD, and pharmacological studies have created a compelling argument for the association between ASD and obsessive compulsive disorder (Hollander et al. 2006). Thus, a rather intriguing speculation is that in some individuals with ASD, GD may develop as a sequel to ASD, where one’s unusual preoccupations with cross-gender activities and objects may not be related to gender identity confusion in the truest sense, but may just be part of the symptomology of ASD. Findings reported by the VanderLaan et al. (2015) study are consistent with this argument. They found that a sample of 534 children clinically referred for GD showed an elevation in intense and obsessional interests on responses to an item on the CBCL which measures obsessions and compulsions, when compared to CBCL clinic-referred and non-referred standardization samples. The pervasive preoccupations and distress with cross-gender roles, restricted related interests, and sometimes ritualized behavior seen in clients with GD could be one manifestation of obsessive behaviors inherent to ASD, and other researchers have agreed to this (Landén and Rasmussen 1997; Perera and Gadambanathan 2003; Gallucci et al. 2005).

3.3 Gender Is Socio-Rhetorical

Gender identity typically forms around 3–4 years of age and is considered a social developmental marker (Robinow 2009). Literature has reliably demonstrated that early positive social interactions are critical to the development of a fund of higher-order social skills (Parker and Asher 1993), which in turn is pivotal to the development and healthy expression of gender and sexuality (Gagnon and Simon 2011; Rees et al. 2006). Given that impaired social functioning is a hallmark feature of ASD, the establishment of a gender identity could become complex. Additionally, drawing on the theory of mind in relation to autism, deficits with empathy and imagination may further hinder the development of a view of oneself as belonging to a gender group (Happé and Frith 1995).

Abelson (1981) indicated that the establishment of gender identity in children with autism appeared to be a function of their social communication. He went on to stress that achieving gender identity is a critical milestone for children as this would then go on to facilitate forming effective emotional bonds with their identified gender group, which would then help forge meaningful and appropriate social relationships. A rather vicious circle is speculated here, where deficiencies in their social skills raise challenges for the child with ASD to come to a clear understanding of their gender identity, and then a fragmented or dysfunctional gender identity interferes with the child’s integration into their own gender group, placing them at a disadvantage to develop healthy social bonds with their peers. However, it must be stressed that, clearly, not all children with ASD struggle with their gender identity and many go on to have a clear understanding of their gender (Abelson 1981).

Accordingly, on investigating attitudes of individuals with ASD to gender identity, George and Stokes (submitted) found that 83 % of the responses from males and 94 % of responses from females indicated that gender was conceptualized as a socio-rhetorical system. Participants shared that the system was not always straightforward to negotiate for the individual with ASD and that gender would best be described as “fluid, a socially restrictive label, confusing, outdated, and irrelevant to their personal identity.” Furthermore, many participants shared sentiments on being more content with a “genderless society.” Other authors diagnosed with ASD shared similar sentiments and confessed that their “nervous system is configured differently” (Golubock 2003) and that their wiring just would not “understand, interpret, and perform gender-typing” effortlessly and without conflict and conceded to “gender-blindness” (Meyerding 2003). Perhaps then, examining gender from the perspective of someone with ASD licenses a denaturalization of social norms and expectations.

4 Management of GD

While for many individuals with ASD, a gender-fluid lifestyle may not hinder social, mental, and occupational functioning, for some the incongruence between their perceived gender identity and their birth sex could develop into a GD, as was evident in the increased number of ASD diagnoses among clients referred to gender clinics for clinical management (Jones et al. 2012; Pasterski et al. 2014). This is understandable, given that the rigid thinking styles characteristic of ASD would not lend itself to a dissonance between one’s thoughts and their behavior. George and Stokes (submitted) similarly found significantly higher scores on their GD survey among ASD participants; three individuals scored over the cutoff point, warranting a diagnosis of GD. This rate of 1.4 % was much higher than found in the general population, approximately 560 times higher than the prevalence rates in the wider population.

Living with GD can be extremely distressing to the individual, and treatment is generally aimed at alleviating this distress by helping the individuals with GD live their lives the way they would like to, in their preferred gender identity. What this means would vary from person to person and thus management of GD is undertaken on a case to case basis. For individuals under the age of 18 years of age, a multidisciplinary team, comprising specialists from the mental health profession and pediatric endocrinologists, is called upon to provide assistance to the child and the family. For children under the age of 12, support provided is mostly psychological, rather than medical or surgical. This is because in most gender-dysphoric children, GD will cease when they reach puberty (Wallien and Cohen-Kettenis 2008). Psychological support offers children and their families a chance to discuss their thoughts and receive support to help them emotionally cope with their distress, without rushing into more drastic treatments.

However, if GD persists into adolescence, hormonal treatment is commenced sometimes with gonadotropin-releasing hormone (GnRH) analogs, which suppress pubertal hormones responsible for bringing about physical changes to the body related to one’s biological sex (Hembree et al. 2009). GnRH can aid with the delay of these potentially distressing physical changes until the individual with GD is old enough for more radical treatment options. Treatment with GnRH is reversible and gives the young person time to consider their choices and make informed decisions regarding their future course.

Once the young person reaches the age of 18, management will be transferred to gender identity clinics that specialize in support and treatment of adults with GD (Hembree et al. 2008). At this stage, both the individual and the medical team are more confident in their course of action, and permanent pharmacological treatment such as masculinizing or feminizing hormones and surgical treatment through sexual reassignment are available to alter the individual’s physical appearance to further line up with their gender identity.

However, when an individual with GD presents with co-occurring ASD, the level of complexity in terms of clinical management increases, owing to the comorbid presence of symptoms of both GD and ASD. In treating the GD, the ASD will need to be taken into account, and disentangling whether the GD is indeed a separate condition and not related to ASD-related symptoms remains a challenge to provide individuals with comorbid ASD and GD with proper care (De Vries et al. 2010). Having a diagnosis of ASD need not affect whether the individual continues on their chosen path for sexual reassignment surgery but, considering the diagnosis, may assist the individual in examining the motives behind their choices and accordingly make better informed decisions about treatment and physical mediations.

Conclusions

Possibly the most fundamental characteristic of a person’s identity is their gender, which conceivably deeply influences every part of one’s life. In a society where this crucial aspect of self has been so narrowly defined and rigidly enforced, individuals who exist outside its norms likely face innumerable challenges and can become targets of disapproval. An individual diagnosed with ASD and experiencing GD would understandably bear a significant burden of distress, and George and Stokes (submitted) found levels of depression, anxiety, and stress positively correlated with the levels of GD symptomology reported by individuals with ASD.

Gender is possibly the one most intensively socialized construct, with many “rules” that are not explicit, and while these gendered norms are typically reflexively embodied by most persons, it is reasonable that gender may be somewhat challenging for some individuals with ASD. The confusion of navigating within this milieu may manifest as GD in some cases of individuals with ASD, when it might be an ASD identity versus a neurotypical identity that may be at the core of their identity issue, rather than a clear desire for a cross-gendered lifestyle. Indeed, this tension could contribute to the development of a true GD. Equally tenable is the possibility that ASD may share a common pathway with the pathophysiology of GD, an avenue that requires careful empirical clarification.

GD is overrepresented in ASD when compared to the general population. While we cannot say with any certainty that gender identity is impervious to biological influences or that gender identity is free of social influences, we suggest that the relative balance of biological and social influences may be more variant and synergistic, on average, for individuals with ASD than for TD individuals.