Chapter 16 Anne A. Lawrence and Kenneth J. Zucker The term gender dysphoria (GD) denotes discomfort with one’s biological sex or assigned gender. GD is the defining characteristic of a category of psychosexual disorders in which affected persons are “intensely and abidingly uncomfortable in their anatomic and genetic sex and their assigned gender” (Fisk, 1974b, p. 10). The most widely recognized and severe manifestation of GD is transsexualism, in which affected persons express an intense and persistent desire to live and be recognized as members of the other sex and to make their bodies resemble those of the other sex through hormonal and surgical treatment. Less severe and less widely known manifestations of GD also exist, however, and may be more prevalent than transsexualism. Individuals who wish to live and be recognized as members of the other sex have been recognized since antiquity in many different societies worldwide (Green, 1969). The German physicians Krafft-Ebing (1903/1965) and Hirschfeld (1910/1991) described patients who would now be diagnosed as suffering from GD. Christine Jorgensen’s widely reported sex reassignment in 1952 brought the phenomenon of transsexualism to public attention in Western countries (Meyerowitz, 2002). By the 1960s, academic medical centers in the United States and Western Europe had begun to offer hormonal and surgical sex reassignment to carefully selected patients. In 1980, conditions involving GD were first recognized as psychiatric diagnoses in the third edition of the Diagnostic and Statistical Manual of Mental Disorders (DSM-III; American Psychiatric Association [APA], 1980). Historically, the term GD has been used in several different ways, which has sometimes caused confusion. Fisk, who introduced the term, offered three slightly different definitions: He originally defined GD as discomfort with both biological sex and assigned gender (Fisk, 1974b), but in subsequent definitions focused primarily on either biological sex (“displeasure with the sex of [one’s] genital anatomy, the chromosomes, and the endocrine secretions”; Laub & Fisk, 1974, p. 390) or on assigned gender (“dysphoria concerning the individual’s gender of assignment or rearing”; Fisk, 1974a, p. 388). Blanchard’s definitions of GD sometimes emphasized only discomfort with biological sex (“persistent discontent with the primary or secondary sexual characteristics of one’s body”; Blanchard, 1993b, p. 70) but at other times also emphasized cross-gender aspirations (“discontent with one’s biological sex, the desire to possess the body of the opposite sex, and the desire to be regarded by others as a member of the opposite sex”; Blanchard, 1993a, p. 301). The DSM-IV (APA, 1994) and DSM-IV-TR (APA, 2000) stated that intense discomfort with either biological sex or assigned gender role could justify a diagnosis of GD (“persistent aversion toward some or all of those physical characteristics or social roles that connote one’s own biological sex”; APA, 2000, p. 823). Note that, in at least some of these definitions, discomfort with biological sex characteristics alone was considered sufficient to diagnose GD; cross-gender identification was not always explicitly required. More recent definitions of GD, in contrast, have deemphasized discomfort with biological sex characteristics and have focused almost exclusively on discordance between assigned sex and gender identity (“an individual’s identification as male, female, or, occasionally, some category other than male or female”; APA, 2013, p. 451). The World Professional Association for Transgender Health (WPATH), for example, defined GD as “discomfort or distress that is caused by a discrepancy between a person’s gender identity and that person’s sex assigned at birth (and the associated gender role and/or primary and secondary sex characteristics)” (WPATH, 2011, p. 5). Two succinct definitions of GD that occur in the DSM-5 (APA, 2013) do not even mention biologically based discontent or distress (“affective/cognitive discontent with the assigned gender” and “distress that may accompany the incongruence between one’s experienced or expressed gender and one’s assigned gender”; APA, 2013, p. 451). Although the term experienced or expressed gender is never formally defined in the DSM-5, its usage therein suggests that it is synonymous with gender identity (e.g., “experienced gender may include gender identities beyond binary stereotypes”; APA, 2013, p. 453). The DSM-III, DSM-III-R, DSM-IV, and DSM-IV-TR all categorized psychosexual disorders involving GD under the overarching category of gender identity disorders (GIDs), because an “incongruence between anatomic sex and gender identity” (APA, 1980, p. 261) was considered to be the defining characteristic of these conditions. The DSM-5 made GD both the overarching category and a specific diagnosis within the category, because “the current term [GD] is more descriptive than the previous DSM-IV term gender identity disorder and focuses on dysphoria as the clinical problem, not identity per se” (APA, 2013, p. 451; see also Zucker et al., 2013). The DSM-5 nevertheless makes it clear, however, that a problem involving one’s gender identity—now framed as an “incongruence between one’s experienced/expressed gender and assigned gender” (APA, 2013, p. 452)—“is the core component of the diagnosis” (p. 453). Thus, the DSM-5 apparently still conceptualizes GD as a disorder primarily involving gender identity, if not a disorder of gender identity. In all of these DSM editions, adult and adolescent psychosexual diagnoses involving GD or GIDs have usually consisted of one principal or prototypical diagnosis with specific diagnostic criteria and one or more residual diagnoses, usually without specific criteria. In the DSM-III (APA, 1980), the principal diagnosis was Transsexualism and the residual diagnosis was Atypical Gender Identity Disorder. In the DSM-III-R (APA, 1987), the principal diagnosis remained Transsexualism, and the residual diagnoses became Gender Identity Disorder of Adolescence or Adulthood, Nontranssexual Type (GIDAANT)—the only residual diagnosis to have specific criteria—and Gender Identity Disorder Not Otherwise Specified (GIDNOS). In the DSM-IV (APA, 1994) and DSM-IV-TR (APA, 2000), GID became the principal diagnosis and the only residual diagnosis was GIDNOS. The DSM-5 continues this general pattern: The principal diagnosis is GD and the residual diagnoses are other specified GD and unspecified GD. Principal diagnoses involving gender identity problems have become progressively more encompassing in successive versions of the DSM: Many clinical presentations that once would have received a residual diagnosis (e.g., GIDAANT or GIDNOS) would now receive the principal diagnosis, GD. Although transsexualism is no longer an official DSM diagnosis, many clinicians continue to use the term, in part because it remains an official diagnosis in the International Classification of Diseases (World Health Organization, 1992). Some experts consider transsexualism to be synonymous with “severe GD” (e.g., Blanchard, 1993c). The distinction between transsexualism and GD may be of limited practical importance, because much of the research relevant to understanding GD in adults has involved persons who would meet diagnostic criteria for transsexualism by most definitions. Adults with severe GD, especially those who request or have completed sex reassignment, are commonly referred to as male-to-female (MtF) and female-to-male (FtM) transsexuals. The terms transgender and transgenderism are used informally to describe persons who report or exhibit significant cross-gender or gender-variant identity or behavior, regardless of whether they meet diagnostic criteria for GD or transsexualism. Some of these individuals, including some who meet diagnostic criteria for GD, may explicitly identify as transgender persons. Dislike for one’s primary or secondary sex characteristics, discomfort with one’s assigned gender or associated gender role, identification with the other gender, and requests for approval for hormonal and surgical sex reassignment are the most frequent presenting complaints of adult patients with GD. Adults with GD sometimes present initially with other clinical concerns, however, including paraphilias, sexual dysfunctions, depression, or other general psychiatric conditions (Levine, 1993). Persons with GD usually identify with the other sex; they may want the anatomy, the gender role, or the sexuality of the other sex, or any combination of these (Carroll, 1999). Persons with severe GD or transsexualism typically want both the anatomy and the gender role of the other sex (Deogracias et al., 2007; Singh et al., 2010). As noted earlier, an intense feeling of “wrong embodiment,” manifesting as discontent with sexed body characteristics and a strong desire to acquire the anatomy of the other sex, has sometimes been considered the essential feature of severe GD and especially of transsexualism (Blanchard, 1993b; Bower, 2001; Laub & Fisk, 1974; Prosser, 1998). However, not all patients with GD experience intense anatomic dysphoria; some primarily desire to enact the gender role or sexuality of the other sex and are unconcerned or ambivalent about acquiring the anatomic features of the other sex. Rarely, persons with GD may identify with what the DSM-5 calls “some alternative gender” that corresponds to neither their assigned sex nor the other sex. Examples would include males who desire castration and who identify as eunuchs (Johnson, Brett, Roberts, & Wassersug, 2007; Johnson & Wassersug, 2010) and persons who want some combination of the secondary sex characteristics of both sexes who identify as she-males, trans persons, or transgender persons (Davidmann, 2010). In some cases, persons with various disorders of sex development (DSDs; formerly known as intersex conditions) experience distress due to an incongruence between their gender identity and their assigned gender. These individuals can be given the principal diagnosis of GD in the DSM-5, with the assignment of the newly added DSD specifier. In previous editions of the DSM, the presence of a DSD or intersex condition was considered an exclusion criterion for the principal GID diagnosis, and gender dysphoric persons with these conditions could only receive a residual diagnosis (e.g., GIDNOS). Notwithstanding this change, the recommendation made by Mazur, Colsman, and Sandberg (2007) still seems advisable: Because of probable but still incompletely understood differences in the etiology and presentation of GD “in physically typical persons (i.e., transsexuals) and in those with intersex conditions…, it would be prudent to consider them as separate entities when initiating an evaluation” (p. 236). Richter-Appelt and Sandberg (2010) similarly emphasized that “the etiology, natural history, and response to treatment may be quite different” (p. 98) in gender dysphoric persons with and without DSDs. For example, in persons without DSDs, GD usually appears during childhood and is more prevalent in males than in females; in persons with recognized DSDs, GD more commonly appears during adolescence and is more prevalent in female-assigned than male-assigned persons. Discussion of the prevalence and manifestations of GD in specific DSD syndromes is beyond the purview of this chapter, but useful summaries and reviews exist (e.g., Mazur et al., 2007; Steensma, Kreukels, de Vries, & Cohen-Kettenis, 2013). It is recognized that GD is rarely if ever reported in conjunction with some DSDs, such as Turner’s syndrome and complete androgen insensitivity syndrome, but that it is overrepresented relative to the general population in association with other DSDs, such as congenital adrenal hyperplasia (CAH) and partial androgen insensitivity syndrome (Dessens, Slijper, & Drop, 2005; Mazur, 2005; Mazur et al., 2007). Jordan-Young (2012) argued that the gender-atypical interests and attitudes of females with CAH plausibly reflect a complex set of influences—the general physiological effects of adrenal androgens, the consequences of medical interventions and surveillance, the sexual effects of atypical genital morphology, and altered societal expectations—rather than simple masculinization of brain gender by elevated androgen levels. Similar considerations may be relevant to understanding the etiology of GD in other DSD syndromes as well. Individuals with DSDs who experience GD typically identify as men or women of the gender other than their assigned gender, but some may identify as intersex, intersexual, or epicene persons (Bearman, 2007; Harper, 2007; Preves, 2003). The DSM-III described transsexualism as a “heterogeneous disorder” (APA, 1980, p. 261), and subsequent research has confirmed the diversity of clinical presentations in adults with GD. Biologic sex and sexual orientation are two features that account for much of this diversity (Lawrence, 2010b). Adult males with GD are more variable in clinical presentation than adult females with these conditions. Adult males with GD or transsexualism whose sexual orientation is characterized by exclusive attraction to men are called homosexual (or androphilic) gender dysphoric males or MtF transsexuals, because they are homosexual relative to their biologic sex. These persons are typically dramatically different in clinical presentation from adult males with GD or transsexualism whose sexual orientation is characterized by attraction to women, to women and men, or to neither sex, who are called nonhomosexual gender dysphoric males or MtF transsexuals (Blanchard, 1985, 1989b; see also Lawrence, 2010b). In adult males with GD or transsexualism, homosexual and nonhomosexual subtypes appear to represent distinctly different clinical spectra (Whitam, 1987) and plausibly reflect entirely different etiologies (Freund, 1985; Smith, van Goozen, Kuiper, & Cohen-Kettenis, 2005b). The great majority of adult females with GD or transsexualism are exclusively attracted to women and are called homosexual (or gynephilic) gender dysphoric females or FtM transsexuals. Although these gender dysphoric females differ in important ways from their nonhomosexual counterparts, the differences between subtypes based on sexual orientation in females with GD are less pronounced and less well documented than differences between subtypes based on sexual orientation in males with GD. Key features of these four typological categories are summarized in Table 16.1 and are described below. Table 16.1 Subtypes of GD in Adults Males with GD who are exclusively sexually attracted to men were usually conspicuously feminine as children; many or most probably would have met diagnostic criteria for GD during childhood and adolescence. Homosexual gender dysphoric males are usually also extremely feminine as adults (Blanchard, 1988; Whitam, 1987, 1997) and are more feminine in appearance than their nonhomosexual counterparts (Smith et al., 2005b). They rarely report any history of sexual arousal with cross-dressing (Blanchard, 1985, 1989b). Whitam (1987) observed that “in most societies these persons regard themselves as homosexuals and are regarded by more masculine homosexuals as a natural part of the homosexual world” (p. 177); clinicians may find it useful to adopt this perspective as well. If homosexual males with GD seek sex reassignment, they usually do so in their 20s or early 30s (Blanchard, Clemmensen, & Steiner, 1987; Smith et al., 2005b). In past decades, gender dysphoric males who underwent sex reassignment in the United States, Canada, and western European countries were homosexual (androphilic) in orientation; currently, most gender dysphoric males who undergo sex reassignment in these countries are nonhomosexual (Lawrence, 2010c). Most males with GD seen by clinicians in the United States and many Western countries are nonhomosexual in orientation. They may describe themselves as sexually attracted to women, to women and men, or to neither sex, but their primary sexual attraction is toward females. In most cases they also are (or at one time were) sexually attracted to the thought or image of themselves as females, a paraphilic sexual interest called autogynephilia (“love of oneself as a woman”; Blanchard, 1989a, 1989b). The most common manifestation of autogynephilia is erotic cross-dressing. Most nonhomosexual males with GD have a history of erotic cross-dressing or cross-gender fantasy (Blanchard, 1985; Lawrence, 2005), and sexual arousal with cross-gender fantasy has been observed to be extremely common, perhaps almost universal, among nonhomosexual gender dysphoric males (Blanchard, Racansky, & Steiner, 1986). Anatomically focused autogynephilia (i.e., sexual arousal to the idea of having female anatomic features, such as breasts or a vulva) is especially characteristic of gender dysphoric males who seek surgical sex reassignment (Blanchard, 1993c). It may be conceptually useful to think of nonhomosexual males with GD as heterosexual males with an unusual paraphilic sexual interest that makes them want to become what they love (Lawrence, 2007) by turning their bodies into facsimiles of the persons they find sexually desirable, women (Freund & Blanchard, 1993), although few would probably describe themselves in this way (Lawrence, 2013). Nonhomosexual males with GD often have other paraphilic sexual interests, especially sexual masochism (Bolin, 1988; Lawrence, 2013; Walworth, 1997). Some nonhomosexual males with GD develop a secondary sexual interest in men, because they are aroused by the idea of taking a woman’s sexual role with a man, thereby having their “physical attractiveness as women validated by others” (Blanchard, 1989b, p. 622). Nonhomosexual males with GD usually were not conspicuously feminine during childhood nor are they conspicuously so as adults (Blanchard, 1990; Whitam, 1997). Some report mild gender nonconformity during childhood (Buhrich & McConaghy, 1977) but less so than homosexual gender dysphoric males (Zucker et al., 2012). They are also less feminine in appearance than their homosexual counterparts (Smith et al., 2005b). In past decades, they typically sought sex reassignment in their mid-30s or later (Blanchard et al., 1987; Smith et al., 2005b) and not uncommonly in their 50s or 60s (Lawrence, 2003). More recently, however, gender dysphoric males of both the nonhomosexual and homosexual subtypes appear to be seeking sex reassignment at younger ages (Zucker et al., 2012). There are also two subtypes of gender dysphoric females based on sexual orientation, but these are less dissimilar than the two male GD subtypes. Homosexual and nonhomosexual females with GD, for example, apply for sex reassignment at roughly similar ages (Smith et al., 2005b); but the two female GD subtypes also display some significant differences. Homosexual females with GD, who are exclusively sexually attracted to women, were invariably conspicuously masculine during childhood (Smith et al., 2005b); most probably would have met diagnostic criteria for GD during childhood and adolescence. Nonhomosexual females with GD, who are sexually attracted to men or both women and men, “may have been girls with neutral interests or with some tomboy characteristics” (Smith et al., 2005b, p. 159), but they were usually less conspicuously and pervasively masculine during childhood. The sexual attitudes of homosexual gender dysphoric females are male-typical in many respects: They display greater sexual than emotional jealousy and report more sexual partners, more interest in visual sexual stimuli, and greater desire for phalloplasty than their nonhomosexual counterparts (Chivers & Bailey, 2000). Nonhomosexual gender dysphoric females have sexual attitudes that are less male-typical (Chivers & Bailey, 2000). They are also more likely to have comorbid psychopathology (Smith et al., 2005b), for reasons that are not well understood. Sexual arousal to cross-dressing or cross-gender fantasy does not appear to be a significant factor in the development of nonhomosexual GD in females (Smith et al., 2005b). Nonhomosexual females with GD were once believed to be rare, but they now comprise roughly 10% to 20% of females with GD in northern European countries (Kreukels et al., 2012). The defining diagnostic criterion of GD (APA, 2013) is a marked incongruence between gender identity (“experienced/expressed gender”) and assigned sex, manifesting as some combination of discomfort with anatomic sex, desire for the anatomy of the other sex, desire to live or be treated as a member of the other sex, or perceived psychological similarity to the other sex. There is also a requirement of clinically significant distress or impairment in functioning. Like past editions of the DSM, the DSM-5 has one principal diagnosis—GD—and one or more residual diagnoses. The two residual diagnoses in the DSM-5 are other specified GD and unspecified GD. Other Specified GD is used where symptoms of gender dysphoria are present and there is clinically significant distress or impairment but the full criteria are not met and the clinician wishes to state why the presentation does not meet full diagnostic criteria. Unspecified GD is the same as other specified GD except that the clinician does not wish to communicate a reason (APA, 2013). Differential diagnostic considerations for the diagnosis of GD in adults include transvestic disorder; schizophrenia, bipolar disorder, and other psychotic conditions; dissociative identity disorder; some personality disorders (PDs); body dysmorphic disorder; and gender nonconformity. Although transvestic disorder is one of the differential diagnoses for GD, the two conditions can and do co-occur (Blanchard, 2010). It is useful, in fact, to think of transvestic disorder and the nonhomosexual subtype of male GD as points on a spectrum of symptomatology, rather than as discrete entities (Lawrence, 2009b). In persons with transvestic disorder, the absence of a marked incongruence between gender identity and assigned sex would exclude the diagnosis of GD. Many cross-dressing men who meet diagnostic criteria for transvestic disorder, however, describe cross-gender identities of some strength (Docter, 1988), and some express a desire to use feminizing hormone therapy (Docter & Prince, 1997). Patients with schizophrenia, bipolar disorder, and other psychotic disorders sometimes experience delusional beliefs of being or becoming the other sex (Habermeyer, Kamps, & Kawohl, 2003; Manderson & Kumar, 2001); treatment of the psychotic condition usually leads to resolution of this cross-gender identification, but GD and psychotic disorders do, on rare occasions, co-occur (Baltieri & De Andrade, 2009; Haberman, Hollingsworth, Falek, & Michael, 1975). Cross-gender ideation sometimes occurs in dissociative identity disorder (Modestin & Ebner, 1995; Saks, 1998); persons with GD display fewer dissociative symptoms than patients with dissociative disorders (Kersting et al., 2003) but more than nonclinical controls. Persons with antisocial PD have been reported to seek sex reassignment in the absence of GD (Laub & Fisk, 1974). Some theorists (e.g., Lothstein, 1984; Person & Ovesey, 1974) have proposed that the identity diffusion associated with borderline personality disturbances might manifest as GD, implying that borderline PD could be a possible differential diagnostic consideration. Wilkinson-Ryan and Westen (2000) found that patients with borderline PD were more conflicted or unsure about their gender identity than nonclinical controls, but Singh, McMain, and Zucker (2011) found no individuals meeting criteria for GD among 100 women diagnosed with borderline PD. Pfäfflin (2007) suggested that body dysmorphic disorder focused on the genitals could be mistaken for GD; the absence of a marked incongruence between gender identity and assigned sex would exclude the latter diagnosis (see also Phillips et al., 2010). Persons with gender nonconformity sometimes report significant cross-gender identification or a preference for the gender role of the other sex but may not experience enough distress or functional impairment to meet full diagnostic criteria for GD. Estimates vary on the prevalence of comorbid psychiatric conditions in persons with GD. Most studies have been conducted in persons diagnosed with transsexualism. Cole, O’Boyle, Emory, and Meyer (1997) found that only 6% of MtF transsexuals and 4% of FtM transsexuals gave a history of treatment for another DSM diagnosis, excluding substance abuse and PDs. Prevalence estimates based on clinicians’ interviews and evaluations are generally higher, suggesting important method variance across studies. Haraldsen and Dahl (2000) observed that 33% of a mixed group of MtF and FtM patients had another current DSM disorder, excluding PDs; the figure reported by Bodlund and Armelius (1994) was 44%. Hepp, Kraemer, Schnyder, Miller, and Delsignore (2005) found another current DSM disorder, again excluding PDs, in 40% of MtF and 36% of FtM transsexuals. De Cuypere, Jannes, and Rubens (1995), on the other hand, diagnosed such disorders in only 23% of MtF and 0% of FtM patients. In two recent studies, Hoshiai et al. (2010) reported a current prevalence of comorbid psychiatric disorders in 19% of MtF and 12% of FtM patients in Japan, and Heylens et al. (2014) reported current prevalence figures of 38% for MtFs and 37% for FtMs for comorbid conditions (excluding PDs) in patients from four European countries. Reported lifetime prevalence figures for DSM disorders other than PDs in MtF transsexuals include 21% (Verschoor & Poortinga, 1988), 45% (De Cuypere et al., 1995), 80% (Hepp et al., 2005), and 68% (Heylens et al., 2014). In FtM transsexuals, reported lifetime prevalence figures for DSM disorders other than PDs include 33% (Verschoor & Poortinga, 1998), 39% (De Cuypere et al., 1995), 55% (Hepp et al., 2005), and 71% (Heylens et al., 2014). Most of these figures are consistent with those found in other clinical populations but exceed those of nonclinical populations. Affective and adjustment disorders are consistently among the most common of these comorbid conditions. In Japan, Hoshiai et al. (2010) found that a lifetime history of suicidal ideation and self-mutilation was high in both MtFs (76% and 31%, respectively) and FtMs (71% and 32%, respectively). Comorbid substance abuse (“dual diagnosis”) is often considered separately from other DSM disorders. Prevalence estimates for comorbid substance abuse among transsexuals cover a wide range. Verschoor and Poortinga (1988) reported a lifetime history of substance abuse in only 11% of MtF and 4% of FtM patients. Cole et al. (1997), Hepp et al. (2005), and De Cuypere et al. (1995) found higher lifetime prevalence figures: 29%, 50%, and 50%, respectively, in MtF transsexuals, and 26%, 36%, and 62%, respectively, in FtM transsexuals. Reported prevalence data for comorbid PDs are generally more consistent: Observed prevalence figures in mixed groups of MtF and FtM transsexuals include 20% (Haraldsen & Dahl, 2000), 33% (Bodlund & Armelius, 1994), and 42% (Hepp et al., 2005). Miach, Berah, Butcher, and Rouse (2000) found PDs in 29% of MtF transsexuals, whereas De Cuypere et al. (1995) reported PDs in 23% of FtM patients but in 70% of MtF patients—the last figure a notable outlier. Heylens et al. (2014) recently reported much lower figures: 12% in MtF patients and 18% in FtM patients. The higher figures are similar to those seen in other clinical populations but exceed those of nonclinical populations. Heylens et al. (2014) found that the most prevalent PDs in their large European study were avoidant, schizoid, and borderline, with the Cluster C disorders most common overall. When there is psychiatric comorbidity in patients with GD, how might this be best understood? There are at least four ways in which to formulate it: (1) It might be explained by the social stigma that results from the patient’s non-normative gender identity (e.g., Clements-Nolle, Guzman, & Harris, 2008; Herbst et al., 2008; Koken, Bimbi, & Parsons, 2009; Melendez & Pinto, 2007); (2) it can be conceptualized as a causal factor in understanding the genesis of the GD (e.g., de Vries et al., 2010); (3) the presence of such difficulties might be related to generic risk factors that operate in the individual and/or the family of origin (e.g., genetics, parental psychopathology, social and economic adversity, etc.); and (4) it could be argued that the inherent distress associated with a GD, even in the absence of social stigma, could lead to other psychiatric problems. Levine and Solomon (2009) provided a useful essay that can help clinicians sort out which of these factors might be operative in an individual case. Population-based treatment data from European countries provide the best estimates of the prevalence of GD and transsexualism in Western societies (Zucker & Lawrence, 2009). In Belgium, the prevalence of transsexualism, defined as having undergone sex reassignment, is 1:12,900 for adult males and 1:33,800 for adult females (De Cuypere et al., 2007). Data from the Netherlands are similar: 1:11,900 adult males and 1:30,400 adult females (Bakker, van Kesteren, Gooren, & Bezemer, 1993). Primary care physicians in Scotland reported a prevalence of GD, treated with cross-sex hormone therapy or sex reassignment surgery (SRS), of 1:12,800 in adult males patients and 1:52,100 in adult female patients (Wilson, Sharp, & Carr, 1999); the overall prevalence of GD, treated or untreated, was 1:7,400 in males and 1:31,200 in females. Based on New Zealand passport data, Veale (2008) reported somewhat higher rates: 1:3,630 in males and 1:22,714 in females. In most Western countries, MtF transsexualism is two or three times as prevalent as FtM transsexualism (Garrels et al., 2000; Landén, Wålinder, & Lundström, 1996). There is evidence that treatment-based studies underestimate the true prevalence of GD. In a large, population-based survey of persons 15–70 years old, conducted in the Netherlands, Kuyper and Wijsen (2014) found that 1.1% of males and 0.8% of females reported an incongruent gender identity (stronger identification with the other sex than with one’s assigned sex). Persons reporting an incongruent gender identity combined with both a dislike of their sexed body characteristics and the desire to change their bodies with hormonal or surgical treatment included 0.2% of the males and 0.05% of the females. These results suggest that GD may be more prevalent than is generally supposed, but they also demonstrate that, although an incongruent gender identity may be a cardinal symptom of GD, it does not necessarily imply the presence of significant dysphoria or the desire to undergo hormonal or surgical treatment. There is also evidence that GD is becoming more prevalent. Studies conducted in Sweden in the 1960s reported a prevalence of transsexualism of 1:37,000 in adult males and 1:103,000 in adult females (Landén et al., 1996), or roughly one-third of current estimates from treatment-based studies. The observed increase in prevalence probably reflects a lower threshold at which individuals consider themselves to be appropriate candidates for sex reassignment. Two recent surveys revealed that 2.7% and 2.8% of adult males reported having experienced sexual arousal in association with cross-dressing (Ahlers et al., 2011; Långström & Zucker, 2005). These results imply that autogynephilic cross-dressers are probably the most numerous transgender subgroup. Many of these individuals, however, probably do not experience their gender identities as incongruent with their assigned sex and, therefore, would not meet diagnostic criteria for GD. Moreover, most probably do not experience sufficient distress or impairment to meet diagnostic criteria for either GD or transvestic disorder. Some persons with GD report that they were aware of their transgender feelings from their earliest memories. The cross-gender behaviors and interests of most homosexual males and females with GD and of some nonhomosexual females with GD were usually evident in early childhood. Nonhomosexual males with GD typically report that they experienced their first desire to be the other sex or to change sex in middle childhood but sometimes as late as adolescence or adulthood (Lawrence, 2005, 2013; Nieder et al., 2011; Zucker et al., 2012). Psychological assessment in known or suspected cases of GD involves determining the presence or absence of GD, evaluating the nature and severity of the GD, and assessment of comorbid psychopathology. In adults, GD is diagnosed primarily on the basis of self-report: “There are no so-called objective tests, either medical or psychological, that serve as proof of the diagnosis” (Pfäfflin, 2007, p. 176). The clinician should obtain information about the client’s psychosexual development, gender identification, sexual orientation, and feelings concerning sexed body characteristics and assigned gender role. Clients sometimes deliberately or inadvertently provide misleading information to caregivers, especially if they are eager to be approved for treatment (Walworth, 1997). Clinicians should not uncritically accept self-reported sexual orientation in male patients with known or suspected GD who have a history of sexual attraction to women: Many such patients develop secondary sexual attraction to men in connection with their cross-gender identification and inaccurately describe themselves as exclusively attracted to men, whereas experienced clinicians often judge otherwise (Nieder et al., 2011). Questionnaires and scales for the objective assessment of GD exist but are not yet widely used in clinical practice. The gender-related scales of the Minnesota Multiphasic Personality Inventory–2 (Mf, GM, and GF; Butcher et al., 2001; Martin & Finn, 2010) provide objective measures of clients’ gender-typical or atypical attitudes and interests (see, e.g., Gómez-Gil, Vidal-Hagemeijer, & Salmero, 2008). The Feminine Gender Identity Scale for Males (Freund, Langevin, Satterberg, & Steiner, 1977) and Masculine Gender Identity Scale for Females (Blanchard & Freund, 1983) have rarely been used outside of research settings. The Utrecht GD Scale (Cohen-Kettenis & van Goozen, 1997; see also Cohen-Kettenis & Pfäfflin, 2010) unfortunately has not yet been published in English. The Gender Identity/GD Questionnaire for Adolescents and Adults (Deogracias et al., 2007) is a recently developed, published instrument with good sensitivity and specificity; it has been cross-validated (Singh et al., 2010) and seems destined to achieve widespread acceptance. The specific focus of GD can vary considerably among clients. GD may involve dissatisfaction with sexed body characteristics, gender role, or both; the specific pattern may affect treatment planning. Intensity of GD not only varies among clients but can also vary over time in the same client. GD often intensifies following significant crises or losses (Levine, 1993; Lothstein, 1979; Roback, Fellemann, & Abramowitz, 1984) but may moderate or remit when these have been resolved. As noted previously, comorbid mental health problems are prevalent in persons with GD. Treatment of comorbid psychotic, affective, and anxiety disorders may be required before GD can be confidently diagnosed and adequately characterized. Any comorbid mental health problems must be reasonably well controlled as a precondition for approval for genital SRS (WPATH, 2011). Physical examination and laboratory testing are of limited value in the assessment of GD. Physical examination could help ascertain the presence or absence of a DSD, which might lead to an assignment of a specifier in the former case. Some gender identity clinics routinely perform karyotyping in GD evaluations, but the procedure is expensive and the results will be normal in roughly 97% of patients with known or suspected GD or transsexualism (Auer, Fuss, Stalla, & Athanasoulia, 2013; Bearman, 2007; Inoubli et al., 2011). Nonautosomal positive findings in males will usually represent Kleinfelter syndrome (47, XXY) or an XYY karyotype (Auer et al., 2013; Buhrich, Barr, & Lam-Po-Tang, 1978; Snaith, Penhale, & Horsfield, 1991; Taneja, Ammini, Mohapatra, Saxena, & Kucheria, 1992; Wylie & Steward, 2008; see also Mouaffak, Gallarda, Baup, Olié, & Klebs, 2007). Bearman suggested that, if karyotyping is performed at all, it should be offered only to male patients with hypogonadism, tall stature, gynecomastia, or learning disorders. There are a few case reports in the literature showing sex chromosome abnormalities in FtM patients (Auer et al., 2013; Khandelwal, Aggarwal, & Jiloha, 2010; Turan et al., 2000). Over the years, evidence for an elevated prevalence of polycystic ovary syndrome (PCOS) in female GD and transsexualism has been inconsistent. Baba et al. (2007) reported an unexpectedly high figure, 58%, in a Japanese sample; the same investigators subsequently reported a figure of 32% in FtM transsexuals who had never used testosterone (Baba et al., 2011). In contrast, a well-controlled study that used a rigorous definition of PCOS found a prevalence of only 11.5% in Dutch FtM transsexuals, not significantly different from the 9.6% found in healthy controls (Mueller et al., 2008). Because PCOS may be related to both prenatal and postnatal androgen levels, it would probably be useful for it to be ruled out as part of routine endocrinological evaluation. The clinical course of GD is variable, not easily predictable, and not well understood, even in persons who have been carefully evaluated and diagnosed (WPATH, 2011). There are at least four recognized outcomes of severe GD (Carroll, 1999): (1) unresolved or unknown, (2) acceptance of natal gender, (3) part-time cross-gender expression, and (4) full-time cross-living and sex reassignment. As many as half of clients who undergo evaluation or psychotherapy for GD may withdraw from treatment (Carroll, 1999). They may find the process prohibitively expensive, become impatient with a prolonged evaluation process, or feel ambivalent or hopeless about achieving a satisfactory solution to their gender concerns. Some clients who drop out subsequently resume treatment, but otherwise little is known about the natural history of GD in these individuals. Acceptance of natal gender was once considered the optimal outcome for patients with GD. There have been no convincing demonstrations, however, that any form of psychiatric treatment can eliminate GD or facilitate acceptance of natal gender in adults who experience it; however, some adults with GD do appear to accept their natal gender (Marks, Green, & Mataix-Cols, 2000; Shore, 1984). Acceptance of natal gender sometimes occurs in persons who undergo treatment of comorbid psychological problems, are unwilling to risk losing their employment or their families, hold religious beliefs that condemn sex reassignment, or have physical characteristics that make it impossible for them to pass convincingly as members of the other sex (Carroll, 1999; Shore, 1984). Nonhomosexual men with GD sometimes successfully postpone treatment until they have completed parental or spousal obligations (Blanchard, 1994). The Standards of Care (WPATH, 2011) suggest various “options for social support and changes in gender expression” for individuals who decide not to live part- or full-time in a cross-gender role. Persons with GD may decide to live part-time in their preferred gender role and part-time as members of their natal sex. They sometimes use masculinizing or feminizing hormone therapy or undergo surgical procedures to facilitate this process. Docter and Prince (1997) surveyed more than 1,000 heterosexual cross-dressers, none of whom lived full-time as women, and found that 17% would seek sex reassignment if possible, 28% considered their feminine self their preferred gender identity, and nearly 50% were either using feminizing hormones or wanted to do so. Many of these persons presumably experienced some degree of GD, yet decided to live only part-time as women. Adult females with GD sometimes live part-time in the cross-sex gender role as well, but this rarely becomes a focus of clinical attention and has not been as thoroughly documented. Many clients with a presenting complaint of GD or transsexualism will want to undergo sex reassignment and live full-time as members of the other sex. In reality, full-time and part-time cross-gender behavior do not represent distinctly demarcated outcomes but rather points on a spectrum of options available to persons with GD, involving many possible choices of presentation, cross-gender role assumption, and anatomic modification. Some persons who live full-time in the cross-gender role do not undergo SRS and may not use cross-sex hormone therapy. Some persons who use cross-sex hormones and undergo SRS do not present themselves unambiguously as members of the other sex, but as gender-ambiguous, androgynous, or visibly transgendered individuals. The decision to undertake full-time cross-living and sex reassignment and the process of actualizing this decision typically occurs in stages, similar to the stages of coming out for lesbians and gay men. Several multistage models of transsexual coming out have been proposed (e.g., Devor, 2004; Gagne, Tewksbury, & McGaughey, 1997; Lewins, 1995). These typically involve acknowledging GD, questioning and information gathering, developing a cross-gender identity, disclosing one’s situation to significant others, cross-living, undergoing surgical sex reassignment if desired, and experiencing further evolution of gender identity after transition (Devor, 2004). The WPATH, formerly the Harry Benjamin International Gender Dysphoria Association, promulgates Standards of Care (SOC) for the treatment of persons with GD and related conditions. The SOC are updated regularly, most recently in 2011 (WPATH, 2011). Historically, the SOC have reflected the consensus opinions of experienced professionals but rarely a higher quality of empirical evidence (Cohen-Kettenis & Gooren, 1999); accumulating empirical support for recommendations was one emphasis of the 2011 revision. The SOC are an important resource for treatment of persons with GD, even though some affected persons contest them (see Green, 2008). The SOC describe four main treatment modalities for GD and transsexualism: psychotherapy, cross-sex hormone therapy, real-life experience in the desired gender role, and sex reassignment surgery (SRS)—a term that usually denotes feminizing genitoplasty in MtF transsexuals but can denote either mastectomy with chest reconstruction or masculinizing genitoplasty in FtM transsexuals. Not all patients with GD desire all these therapeutic modalities. Some patients, for example, are satisfied with cross-sex hormone therapy and full-time or part-time cross-living. The SOC state that hormone therapy, the real-life experience, and nongenital surgery can be provided separately or in any combination, but that feminizing or masculinizing genitoplasty should ordinarily be provided only to patients who have previously used cross-sex hormone therapy for at least one year and have successfully completed a minimum of 1-year, full-time real-life experience in the desired gender role (WPATH, 2011).
Gender Dysphoria
Description of the Disorder
History and Terminology
Clinical Picture
Typical Clinical Presentations
Less Common Clinical Presentations
Subtypes of GD in Adults: Clinical Features
Homosexual Males With GD (MtF)
Nonhomosexual Males With GD (MtF)
Attracted only to men
Attracted to women, women and men, or neither
Conspicuously feminine during childhood
Not conspicuously feminine during childhood
Rarely sexually aroused by cross-dressing
Usually sexually aroused by cross-dressing
Usually seek treatment in their 20s or early 30s
Usually seek treatment in their late 30s, 40s, 50s, or after
Homosexual Females With GD (FtM)
Nonhomosexual Females With GD (FtM)
Attracted only to women
Attracted to men or women and men
Usually conspicuously masculine during childhood
Usually less overtly masculine during childhood
Sexual attitudes are strongly male-typical
Sexual attitudes are less male-typical
Usually seek treatment in their 20s or early 30s
Usually seek treatment in their 20s or early 30s
Homosexual (Androphilic) Males With GD
Nonhomosexual Males With GD
Homosexual and Nonhomosexual Females With GD
Diagnostic Considerations
Diagnosing GD
Differential Diagnosis
Comorbid Psychiatric Conditions and Dual Diagnoses
Epidemiology
Prevalence and Sex Ratio
Age of Onset
Psychological and Biological Assessment
Psychological Assessment
Biological Assessment
Clinical Course, Prognosis, and Treatment
Clinical Course
Unresolved or Unknown Outcomes
Acceptance of Natal Gender
Part-Time Cross-Gender Behavior
Full-Time Cross-Living and Sex Reassignment
Treatment
Standards of Care for Persons With GD
Psychotherapy
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