Gender Identity

Updated: Nov 14, 2022
  • Author: Nicholas Chadi, MDCM, MPH, FRCPC, FAAP; Chief Editor: Caroly Pataki, MD  more...
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Gender identity, gender expression, and gender role

Gender as a term has often been conflated with sex; at times these terms have been used interchangeably. However, these are not synonymous terms. Gender, while associated with sex, is a separate aspect of an individual. It is ultimately the result of a person's relation to their society's understanding of gendered groups. Gender identity is defined as a personal conception of oneself as male, female, both, or neither. This conception is intimately related to a perceived gender role; this is defined as a presentation (typically within an external context) that reflects a given gender identity. A gender role is usually determined by a culture or community, and may have rigid or loose definitions depending on the approach by the community for rules placed upon any gender categories. Gender identity, as it develops, is self-identified, as a result of a combination of inherent and extrinsic factors; gender role, on the other hand, is demonstrated within society by a set of expected behaviors or characteristics for a given gender. The relationship between gender identity and role is mitigated by gender expression, which is the manner in which an individual manifests a gender identity. This expression can be seen on a continuum, and in most cases allows for a degree of individual variation, but this depends on the culture and level of acceptance for transgression of expectations. Further, for those with a gender identity that is not easily defined by a culture, for example a gender fluid or non-binary type of identity, the gender role (perceived "norms") for that identity may not exist in explicit terms. Thus the gender expression may be atypical or unusual for the culture as well. A variety of combinations of these factors may occur, and can change over time.

For example, if a person considers himself a male and is most comfortable referring to his personal gender in masculine terms, then his gender identity is male. His gender role might carry the expectation to wear a particular type of clothing or behave in a particular manner. His gender expression in this instance, however, is masculine only if he demonstrates his culture's typically male characteristics in behavior, dress, and/or mannerisms. If he deviates from those norms, then his gender expression may be demonstrating a role that is not typically male, regardless of his gender identity. In most individuals, gender identity, gender expression, and gender role are congruous. Assessing the acquisition of this congruity, or recognizing incongruity (resulting in gender-variant behavior), is important in the developing child.

In order to understand gender identity development and related issues, definitions must be emphasized for clarity. The topic of gender identity is often discussed merely in terms of dysfunction, and the diagnosis of gender identity disorder is a known phenomenon in both children and adults. [1] However, physicians should remember that all individuals possess a gender identity and that the process of becoming aware of it is an important part of the psychosocial development of a child. In the realm of pediatrics, recognition of gender identity is a process rather than a particular milestone, and variance from societal norms can cause distress to both the child and the child's family. It is necessary to understand the varied pathways that lead to a mature and congruent gender role in order to fully assess a person's behavioral health. [2, 3]

Sex and gender

In the English language, the terms sex and gender are often used interchangeably in the vernacular. However, in a medical and technically scientific sense, these words are not synonymous. Increasingly, the term gender is being accepted to define psychophysiologic processes involved in identity and social role. Therefore, it is not uncommon to hear references to "gender" by professionals from numerous disciplines, including medicine, psychology, anthropology, and social science. Gender comes from the Latin word genus, meaning kind or race. It is defined by one's own identification as male, female, or intersex; gender may also be based on legal status, social interactions, public persona, personal experiences, and psychologic setting.

Sex, from the Latin word sexus, is defined by the gonads, or potential gonads, either phenotypically or genotypically. It is generally assigned at birth by external genital appearance, due to the common assumption that this represents chromosomal or internal anatomic status. When an intersex condition is noted in a newborn, one sex is often chosen with the intention of simplifying social interactions and rearing.

A person's sex is a primary state of anatomic or physiologic parameters. A person's gender is a conclusion reached in a broad sense when individual gender identity and gender role are expressed. An often-used phrase to point out the difference, while an oversimplification, has some merit when dealing with these definitions: Sexual identity is in the perineum; gender identity is in the cerebrum. Increasingly, the more subjective sense of gender identity takes precedence in evaluating patients’ needs. In instances when a discrepancy exists between sex and gender, compassion and empathy are essential to foster better understanding and an appropriate relationship between the physician and the patient. Conceptually, professionals dealing with development may fairly state that sex is biologically determined, whereas gender is culturally determined.

Note that just as gender and sex are not interchangeable terms, neither are gender development and sexual development interchangeable. Physiologic sexual development progresses through distinct stages from the neonatal period through infancy, childhood, puberty and adolescence, and adulthood. Such physiologic change is distinguishable from gender-related behaviors during each of these stages. The sexual identity that emerges beyond childhood is very clearly a separate entity from gender identity. Aspects of physical sexual growth, eroticism, and eventual sexuality, although closely related to gender, should not necessarily be used to draw conclusions about a patient's gender definitions.


Development of Gender Identity - Usual Patterns

Prenatal influences

A child's gender development, meaning maturation of gender identity, clearly begins in the intrauterine stage. Hormone-induced sexual dimorphism in the growing fetus probably plays a primary role. This is apparent in the fact that, most commonly, female sex corresponds with female gender, just as male sex and male gender are commonly linked.

Initially, all human fetuses are primed to have a female sex, in that the default pathway for development is toward female anatomy. During the eighth week of gestation, fetuses with a Y chromosome and a functional locus for the SRY gene product, also called the testes determining factor (TDF), undergo testicular development. This process converts the inherently female fetus into a male one, as a steadily increasing surge of testosterone is then produced by the testes. Much of the testosterone is converted to dihydrotestosterone, which is the key virilizing hormone during gestation. Along the biochemical pathway of hormone production, other recently identified gene products likely play an additional role in the masculinization of the fetus.

Further progression toward the eventual male phenotype occurs as antimüllerian hormone is produced, inhibiting the formation of müllerian ducts, which would lead to female genital development. The fetal brain is also affected by this process. MRI studies in human and animal models reveal that the corpus callosum, amygdala, cerebellum, and portions of the preoptic area of the hypothalamus are larger in brains exposed to intrauterine testosterone. Corresponding parts of the brain are smaller in female, or testosterone-deprived, fetuses. Indeed, in the absence of testosterone, the fetus continues its progression in the female state. Development of the ovaries and the female genital tract is likely triggered by follicle-stimulating hormone (FSH), which is present in both male and female fetuses, but whose effect is superseded by the testosterone surge in males.

The gender identity of a fetus, and later of an infant, is still incomplete by definition. Until a self-conceptualization of such an identity can take place, it remains in flux. At the same time, current research indicates that, because of the expected hormonal exposure secondary to genetic sex, all newborns probably have a certain gender bias toward a particular gender identity. Predicting this based on external anatomy or on other factors is not completely accurate because no specific means exist to verify the presupposition. In a small minority of newborns, it is also possible that the gender bias is neutral, in which case it may remain so or may be modified via environmental and epigenetic (or other gene-influencing) mechanisms.

Rudimentary gender identity at birth, although incomplete, is an important determinant in gender development. The dimorphism of the brain itself suggests a strong biologic underpinning to eventual gender development in the vast majority of individuals. Nevertheless, variations may occur when endogenous or exogenous factors create a fetal environment in which hormone levels do not follow the genetically predetermined pattern. In such situations, the gender bias of these infants may be tilted away from one that correlates with the genotype. Such variations are discussed below.

Early gender development

The environment in which a baby is reared with respect to gender begins to take shape prior to birth. Prenatal ultrasonography now allows the sex of a fetus to be determined quite accurately by the second semester of gestation. Families who receive knowledge of the child's biological sex often use this information to tailor parental planning and reactions. Gender-specific names, items of clothing/toys, and even aspirations for the soon-to-arrive baby may differ depending on the anticipated sex. Thus, a preformed idea of the child's preferences is in place even before the child is delivered.

Upon assignment of sex at birth, a significant environmental role begins in gender development, as the parents usually rear the child as either male of female, with all of the associated social interactions. In recent years, the prevailing notion once fostered by John Money of Johns Hopkins University, that gender identity is malleable during the first years of life, after which it becomes irreversible, has been challenged. Whether particular gender identity is truly an inborn characteristic, or even if it remains unchangeable through the course of an individual's lifetime, has not yet been determined.

Several studies by Milton Diamond of the University of Hawai'i indicate that gender development reaches a critical point during childhood, after which it becomes extremely difficult to modify in most individuals. While there may be a number of children who do not clearly fit into a neat binary model of gender in which the polar extremes of behavior are reserved for those with clear sex and gender congruence, it is increasingly clear that gender identity is at the very least an intrinsic characteristic that emerges during early development.

For the moment, a number of proposed theories appear to have some validity. Note that these theories are neither mutually exclusive nor universally applicable, given the latest evidence. An epidemiologic approach to the human population as a whole cannot be reconciled with the very personal, and often unique, experience of gender development. As such, the current state of knowledge remains somewhat incomplete.

Quite possibly, the multifactorial nature of mammalian development allows the inherent brain bias toward a particular gender identity to be molded during the first few years and, in some cases, perhaps even in later years. Clearly though, as gender development progresses in children, an acceptance and personal expression of a gender identity occurs. Traditionally, this has been called the core gender identity. Evidence suggests that this expression usually takes place by age 2-3 years. The gender role may not necessarily be well defined until age 5 years, although, in some cases, it is evident earlier. Although this concept and these reference-age ranges have been accepted for several decades, the full plasticity of gender identity has not yet been fully elucidated. Whether an absolute final point truly exists after which a gender identity is irrevocably fixed is still unproven.

During infancy, gender identity probably remains in the same incomplete stage in which it exists at birth. At this point, the parents create the gender role, and parental decisions play the largest part in determining environmental influences. Theories of social learning describe differing types of reinforcement in families. Opportunities to experience a variety of activities or restriction to sex-stereotypical ones may have some effect on gender development. Scientific evidence describes behavioral changes that occur when parents of either sex interact with male babies versus female babies. Females are touched and cuddled more; males are encouraged to play assertively with toys and balls. The disparity seems to be greater with fathers than with mothers.

Eventually, the concept of gender constancy develops in the growing child. This refers to the ability of a child to concretely differentiate between the genders, frequently occurring by age 2 years, at which time the first expressions of gender identity are commonly made. Gender constancy is thought to be achieved by age 6 years in nearly all children, barring those with specific variations from the usual pattern.

Continuing gender development

Throughout the rest of childhood and school years, a child's gender identity is typically reinforced by gender role. A preference for same-sex playmates usually manifests by age 3-4 years, and the gender role is better defined by subsequent interactions. A general assumption has been that boys typically prefer more rough-and-tumble activities, often involving physical aggression. Conversely, girls have been thought to prefer quieter activities, with greater reliance on fantasy and imagined situations. Research by Money, among others, seems to indicate that these assumptions are largely true in the examination of school-aged children. The school environment often serves as a model for society, and ascription to either a male or a female gender role is often presented there, as well as at home.

In recent years, significant strides have been made in the awareness of gender-variant behaviors in both boys (male anatomic sex) and girls (female anatomic sex). Typically, female gender variance has been well-tolerated in Western society, with "tomboys" faring reasonably well in school activities. However, male gender variance ("sissy boys") have not been looked upon favorably by families or society and have been more easily recognized. That such gender variance is biologically equivalent in boys and girls, and that it is not necessarily an indicator of gender identity disorder in childhood, is growing clearer. However, the converse is also true; insofar as such behaviors have associations with confusion or incongruence of gender identity, both girls and boys may experience such symptoms.

In adolescence, the influential factors of sexuality, personality traits or disorders, peer interaction, and anxieties are most important in gender development. The nascent gender identity, fostered from infancy to childhood by parents, is first strengthened by playmates, schoolmates, and others. It is usually enhanced by the pubertal development of a child who progresses into adolescence, with its accompanying physical confirmation of the internal self-image. Although many believe that gender identity is fixed in early childhood, it is more certain that, by late adolescence and early adulthood, an established gender identity is unquestionably in place. In the usual case, an accompanying gender role is well defined, and gender identity in the context of one's sexual identity is also clear.


Development of Gender Identity - Unusual Patterns

Conditions resulting from genetic or hormonal influences

Changes to the usual process of fetal development cause numerous differences in the resulting fetus. When levels of prenatal hormones are altered, phenotypic progression is also altered. The inherent brain bias toward one sex may be discordant with the genetic makeup of a fetus, or even with its external anatomic presentation. Other variations lead to psychologic stressors in later development but have their origin in the prenatal stage. A number of such conditions may ultimately affect a child's gender identity.

Chromosomal alterations

Two very well-described syndromes involving sex and gender, Turner syndrome and Klinefelter syndrome, result from chromosomal abnormalities.

Turner syndrome

In Turner syndrome, one sex chromosome is missing, causing a single X karyotype (a solo Y chromosome is not compatible with life). Little evidence exists to suggest that hormone levels in utero are markedly lower than in the case of XX fetuses. The resultant XO individual is born with female external genitalia; however, in many such individuals, ovarian development is anomalous. Other characteristics usually include short stature, neck and chest anomalies, and cardiac defects.

A significant percentage of individuals with Turner syndrome have varying levels of mental retardation. This is clearly not true for all XO individuals. Many XO physicians practice in the United States. Female secondary sex characteristics often do not occur, and patients require exogenous estrogen intervention at the time of puberty. The vast majority of individuals with Turner syndrome are infertile.

Although gender identity is usually female, many XO individuals have significant psychologic stress because of their infertility, their appearance, and, in some, the awareness of their genetic profile, which may make them feel inadequate or incomplete as females. This, in turn, may cause some to feel confusion about or to question their gender role.

Klinefelter syndrome

Klinefelter syndrome occurs when the fetus possesses a sex karyotype of XXY. [4] Because of the presence of the Y chromosome and its components, fetal development is that of a normal male. However, as the child grows and approaches puberty, he experiences excessive gynecomastia, with low serum testosterone levels. Infertility is common, and general appearance is tall and thin. Gender identity is affected by these factors. In most cases, the gender role is, in fact, male; activities and rearing typically are also male.

A higher-than-expected percentage of individuals in the XXY cohort have been reported to have emotional disorders. Preliminary data indicate that a higher number of cases of gender identity disorder are specifically associated with Klinefelter syndrome; more research into this phenomenon is required.

Other chromosomal abnormalities

Many other chromosomal findings are described in the literature, including XYY individuals (the extra Y chromosome has been linked to excessively aggressive or antisocial behavior, with no question of confusion about gender identity, which is male). Mosaicism of sex chromosomes can also be present, including XX/XY persons who may present with the anatomic features of either sex or who may present as intersexed (with characteristics of both sexes). Another condition is termed gonadal dysgenesis, with partial formation of testicular and ovarian tissue. Each of these very uncommon situations requires a separate assessment of the patient's gender identity.


People with anatomically intersexed conditions are at times referred to as hermaphrodites (or true hermaphrodites). The word was coined by John Money and has been popularized by him and other workers in the field such as Harry Benjamin. It stems from the Greek god Hermes (Roman Mercury) and goddess Aphrodite (Roman Venus) and parallels the name of their son, Hermaphroditos. [5] The term is now commonly used to describe those with specific gonadal or genital aspects of both sexes.

In the past, almost unequivocally, one sex was chosen for rearing, with all the advantages and disadvantages brought on by that process. Now, increasingly, some suggest allowing hermaphrodites to remain in the intersex state until self-determination can be made to either continue as such or choose a male or female gender role. The brain bias is a matter of conjecture until adequate research studies are completed. The plasticity of gender identity is most apparent in intersexed patients. Some consider themselves both male and female. Others, believing hermaphrodeity, or hermaphroditism, to be a unique third gender, consider themselves to be neither male nor female. Still others begin life comfortably in one gender role with no sense of incongruence, but during puberty begin to find themselves most comfortable with another gender role that is more consistent with a fully developed gender identity.

Congenital adrenal hyperplasia

Congenital adrenal hyperplasia (CAH) is the classic prenatal variation to female fetal development and, in North America, has an incidence of 1:12,000-14,200 population. In patients with CAH, the fetus is exposed to abnormally high levels of cortisol produced by its own adrenal gland. An enzyme defect exists in the pathway by which cortisol is produced; any one of several particular defects can occur. This leads to a greater amount of androgenic adrenal hormone production. For normal XX female fetuses, the prenatal exposure to androgens results in virilization of female genitalia, in what has been called female pseudohermaphroditism.

At times, virilization is complete, with substantial clitoromegaly. In such cases, the genitalia are so masculine that male sex is mistakenly assigned to the newborn at birth. Soon, clinical findings and symptomatology reveal the defect in the adrenal gland and the true female genotype of the child. Serious salt-losing nephropathy may be the presenting problem in certain infants with definable biochemical defects with this disorder. Exogenous adrenocorticoids, as well as mineralocorticoids, in some instances, are used to treat patients once the diagnosis is known.

Both the gender identity and gender role of females with CAH are controversial issues. Exposure to virilizing hormones would seem to cause a male brain bias, and evidence exists that this may be true. Several cases from the mid 20th century, when this diagnosis was more difficult and sometimes was not made until puberty, show that such infants were sometimes mistakenly raised as males, and their later gender identity and role were reportedly male.

Whether these cases truly constitute a diagnosis of gender identity disorder is not clear because of the hormone-induced changes and additional environmental influences involved during rearing. For the most part, gender identity in patients with CAH seems to remain consistent with the genetic profile. Genetic females with this condition have ovaries, so gonadal sex would be congruent with a female gender identity. The gender role can be more stereotypically masculine, with rougher play and a preference for male activities and dress. Further longitudinal studies are needed to assess the real impact of CAH on gender development.

Androgen insensitivity syndrome

When a normal Y chromosome with a fully functional SRY locus is found in a patient with dysfunctional androgen receptors, as is the case in androgen insensitivity syndrome, which has an incidence rate of 1 per 20,000 population, virilization of the fetus does not fully take place. Although testosterone is produced in utero, it cannot change cells that lack normal receptors. In complete androgen insensitivity, the fetus has a total absence of functional androgen receptors. Therefore, progression in the default path toward female genital structure continues uninterrupted. It is growing more common, and such individuals are referred to as XY females. [6, 7]

In such situations, genetically normal XY males have female external genitalia and appear to be normal females at birth. The testes are undescended, although the vagina is blind-ending with no uterus or ovaries. Subsequent gender identity and gender role are typically incongruent with the biologic sex of the patient. The diagnosis is rarely made in early life, and both brain bias and environmental influences in infancy and childhood generally create a female gender identity.

During puberty, the testes produce testosterone, some of which is converted to estradiol. Given that circulating testosterone is unable to exert any virilizing effects, unopposed estradiol allows female secondary sex characteristics to develop. Because of the lack of even the relatively few functional androgen receptors that genetic females possess, body hair and other androgen-induced changes that normally occur in females are absent.

The eventual appearance of these individuals is usually tall, devoid of body and facial hair, with a low percentage of body fat, thin hips, and fully developed breast tissue. The testes may be removed because of the risk for malignant conversion in undescended testicles. Some literature now suggests that surgery may be avoided if consistent and close surveillance of the testes by ultrasonography and serum levels of typical tumor markers (eg, alpha-fetoprotein) are monitored. If the testes are discovered and removed prior to puberty, hormone replacement therapy is required to induce the described changes, since no source exists for the secretion of sex hormones.

Apart from infertility from the female standpoint, this condition has no clinical sequelae. It must be noted that the testes may be a source for spermatozoa, but it is quite unlikely that XY females will ask for this intervention. As mentioned above, despite the incongruity with the genetic profile, almost all such individuals express a female gender identity and assume a normal female gender role. For many, their appearance is perhaps even closer to a media-idealized female form than typical XX females. Thus, the presence of a Y chromosome is frequently accepted as a biologic quirk rather than the source of psychologic distress.

In partial androgen insensitivity, on the other hand, variable degrees of receptor function result in differing degrees of hypoandrogenization, virilization, and phenotypic presentation. In this less common variant of receptor dysfunction, micropenis may be present, as may hypoplastic labia (given an external female appearance). Because anatomic clues are often used for gender assignment, the degree of masculinization (or lack thereof) often determines recommendations for child-rearing. However, long-term studies appear to support a significant level of gender dysphoria in individuals with partial androgen insensitivity. Unlike the complete androgen insensitivity syndrome, this variant has proven to be difficult to manage in terms of gender congruence.

5-Alpha-reductase deficiency

This, too, is an enzyme defect with effects during prenatal development. The incidence in North America is roughly 1:40,000. Lack of 5-alpha-reductase prevents the conversion of testosterone to dihydrotestosterone in normal male (XY) fetuses. Virilization is incomplete; the infant at birth appears female, although the external genitalia may be somewhat abnormal in size, shape, and color. The feminized phallus appears clitorislike, but the internalized gonads are normal and male, and androgen receptors are also fully functional. When the testes produce a surge of testosterone at puberty, bodily changes occur. A full conversion to male appearance is noted, with growth of the phallus. At this point, a female gender assignment quickly comes into question and then becomes clearly inappropriate.

Interestingly, the most striking cases of gender plasticity are observed in this patient population. Some of those who are raised as girls and who seemingly possess a female gender identity turn into males with puberty, converting to a male gender identity. Perhaps the brain bias for a male identity does occur with testosterone exposure prenatally, despite the inadequacy of genital virilization; it remains suppressed until puberty affirms it.

Others have undergone orchiectomy and have been raised as girls, with exogenous estrogen in adolescence to induce female pubertal changes. Some of these patients express and retain a female gender identity. Still others are raised ambivalently and are given the knowledge that, at puberty, they will differentiate into male status. Some do require slight androgen supplementation to fully complete the virilizing process. No consensus yet exists as to which choice is preferable, and many professionals are equivocal about this population, advocating a case-by-case evaluation of circumstances to decide on intervention.

Genital abnormalities and related phenomena of gender variance

Several rare conditions result in anomalous genitalia, either in form or function. Gender identity can be affected in some of these patients for a variety of reasons. One such situation is micropenis, in which a normal male is born with extremely small genitals. A small cohort of patients undergo botched circumcisions, causing phallic mutilation. Many parents in the past have been advised to allow these children to undergo surgery to construct female genitalia and raise them as girls. Case reports indicate that this is not necessarily the best option because most of such patients assigned a female gender develop a gender identity of male and wish to play a male gender role.

A similar situation is observed with cloacal exstrophy, in which intrauterine development of the urogenital structures is incomplete. Cloacal exstrophy has a North American incidence of 1:400,000. Males with this condition are born without a phallus, although testes are present. Reassignment of these children as females (earlier deemed appropriate because of a belief in neonatal neutrality of gender) has not been entirely successful because most demonstrate a desire for a male gender identity. Surgical and medical management, including orchiectomy, construction of a vulva, and exogenous hormone therapy to induce puberty, have classically been recommended for these patients. However, the gender role is frequently more masculinized than in their genetically female counterparts. Notably, this population appears to be very unpredictable in terms of later gender identity; therefore, a consensus recommendation for child-rearing has not yet been reached.

Even the relatively common condition of cryptorchidism may play a part in gender development. Cases exist of patients with undescended testes whose gender identity was questioned and development did not follow the normative path until psychologic intervention in later years. Such instances show that self-perception, personal knowledge about sex and gender, and comparison to societal standards can all be significant in the formation of a person's gender identity.

Subgroups of individuals also exist whose genitals have been deliberately altered. One such group consists of women who undergo female circumcision, a practice that is often termed female genital mutilation. This practice is found in many parts of Africa and sporadically in other areas of the world, as well as in the United States in the past. Severe alterations to the female external genital tract are performed as part of ritual tradition. In many of these individuals, the procedures are performed well after the expression of gender identity. Gender role is only confirmed by the practice, despite the injury to the genitalia.

Another subgroup is the hajra of India, who are eunuchs, males castrated during childhood and reared as neither male nor female. Lacking testes to induce pubertal development and through adherence to custom that effectively equals behavioral modification therapy, their gender role is mostly female. However, because of their prominent and unique status as a separate subgender, they are easily identified as such. This relegates them to a distinct role in society, and they are considered mystical creatures, to be kept apart. Their existence has been recorded for many centuries, with little information as to the origin of this practice. Whether their gender identity remains male is not well known, although most reported practices seem to indicate that their identity is in flux even in later years.

From a societal standpoint, reports also exist of tribes in both Africa and in Papua New Guinea where male individuals are raised for several years in a more typically female gender role, only to switch into a masculine gender role at the time of puberty. These individuals do not experience any alteration of genitalia but purely shift roles, which may or may not correspond to their gender identity. The shaman in North American aboriginal populations was often a gender-neutral or "bi-gendered" individual, and, in the ancient Middle East, there have been numerous reports of "third gender" persons who contributed to society in various specialized roles. Although, in some societies, there has been and remains outright ostracism for any type of gender atypicality or divergence from a strict male-female dichotomy, in many cultures throughout human history, gender variance has been recognized, tolerated, accepted, and even celebrated.


Gender Identity Disorders of Childhood


The collective synonym for these conditions is gender dysphoria or gender incongruence, and it occurs in both children and adults; the term transsexualism has also been used for those whose sexual identity is altered to match the gender identity. Transgenderism is gaining favor as a term to describe those who take on a gender role to match their gender identity, when it is at odds with their anatomic sex. Transgender also refers to the concept of being "between" genders, which may indicate either a pretransitional phase in which gender incongruence persists or a phase in which gender congruence is achieved by remaining undefined or androgynous in terms of gender identity.

A number of other distinctive subtypes of gender identity presentations exist. Currently, there is debate about classification of these subtypes. Historically, gender identity disorder of childhood has presented with the greatest challenge for clinicians. Many discussions of gender development focus on this particular pathway for comparison with more common pathways.

As research in this field broadens and deepens, gender dysphoria is increasingly recognized as just one of the several atypical patterns of gender development. The Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-5) and International Classification of Diseases 10 (ICD-10) categorization of gender dysphoria as a purely psychiatric disorder is a difficult one because recent evidence has pointed to brain bias as a major determinant of gender identity. If, indeed, patients with gender identity disorders often have a brain bias consistent with their personal gender identity, then a reclassification is necessary. Ever-greater evidence seems to be mounting for this view, particularly in light of the extremely early age at which most cases of gender incongruence present.

At this point in time, most discussions of gender dysphoria remain in the realm of psychiatry; however, a valid argument can be made for more rigorous examination of these phenomena in terms of child development and behavior. These disorders are defined by a strong and persistent preference for the status and gender role of another gender. In the most fully expressed cases, this desire is manifested in transsexual behavior, where an adolescent or adult pursues hormonal and surgical sex reassignment to achieve phenotypic congruence with gender identity.

Physicians should distinguish all aspects of gender dysphoria from transvestism, or cross-dressing. The specific act of cross-dressing, in the absence of any true confusion about gender identity, is classified as a fetish or simple gender-variant behavior and, like many such behaviors, it may have no particular associations other than increased family anxiety. It is quite common to see school-aged children or teenagers who engage in varying degrees of cross-dressing, sometimes in relation to peer group activity or for creative expression. This behavior cannot be equated to gender dysphoria unless other specific criteria are met. Therefore, while most children with gender dysphoria do in fact cross-dress, the act of cross-dressing alone does not qualify a patient as gender dysphoric or suggest a specific diagnosis of any kind. It may be thought of as a distinct behavior that may sometimes be related to an underlying gender incongruence.

In the diagnosis of gender identity disorder of childhood, a referral for mental health assessment is made to address cross-gender behaviors. Most such children wear clothes of the opposite sex, play with toys typically preferred by the opposite sex, and have difficulty in same-sex peer interaction. Age of onset usually is in children younger than 5 years. Psychologic testing can be useful but is not used alone to make a diagnosis for children.

The etiology of this complex diagnosis is not clear. Several theories have been proposed, all associated with variation from the normative pathways described above. Because the current presumption is that gender dysphoria is a mental condition that occurs in otherwise genetically and hormonally normal individuals, psychologic explanations continue to play a major role in theories of causality.

Because of current societal intolerance of cross-gender behavior in general, most children with gender incongruence experience severe levels of distress as they grow. Many parents and relatives show little acceptance of any signs of gender dysphoria. As mentioned above, girls fare somewhat better than boys in this regard. Tomboyish behavior, or male stereotypical behavior in a girl, is often tolerated and even celebrated in some families. Boys who are inherently effeminate in appearance, behavior, or attitudes are often humiliated, teased, and hurt by peers and family members alike. However, as the behavior patterns progress into later childhood, an equal amount of distress is noted among male and female gender dysphorics.

Gender identity disorders of childhood or gender nonconformity of any type has been associated with increased risk for physical or sexual abuse, and post-traumatic stress in youth. It is important to properly explore these issues when evaluating or following a child with issues of gender identity. [8]

A number of studies suggest that most children with gender identity disorder do not grow up to have the diagnosis as an adult. Many develop a gender identity consistent with their anatomic sex. Some become homosexual or bisexual, while others may not. In spite of these suggestive findings, the numbers involved in all such studies are too small to allow any conclusive statements to be made. In order to counsel families and patients about the condition, a very individualized approach must be taken. The entire spectrum of possibilities ought to be discussed, and few predictions about prognosis or outcome should be made quickly or decisively.

Some psychologists offer behavioral treatment for cross-gendered children. Unfortunately, if brain anatomy is truly a crucial factor in a particular individual's gender identity and subsequent gender dysphoria, behavioral therapy designed to alter cognitive feelings and beliefs is likely not the optimal therapy. In fact, it may be harmful to the child's self-esteem and serves only to convince the child that his/her feelings are wrong, mistaken, or even evil. Special care must be given to the child in question, and again, a full and open presentation about gender identity must be provided to the parents.

Adolescents with gender identity disorder usually present similarly to adults. Their movement toward full transsexualism is often much clearer, and they no longer demonstrate initial childhood findings that are subsumed by family environmental issues. Those who present themselves honestly to physicians should be credited for their courage because the condition of gender dysphoria remains profoundly stigmatizing. Many retreat into closeted life-styles, and a significantly higher incidence of suicide has been linked with transsexualism.

With greater awareness, tolerance, and acceptance of these individuals as part of society, some adolescents are able to take first steps into transgenderism, progressing to gender congruence either with or without surgical/medical interventions. In each case, a thorough evaluation of gender identity, preferred gender role, and a complete psychosocial history is needed to assess the situation. Standards of care have been outlined and modified by Harry Benjamin, MD, and these continue to be a well-respected management tool in evaluating and managing transsexualism. Decisions regarding hormonal or surgical management are made after a mental health assessment is completed.

ICD-10 diagnostic criteria for Gender Identity Disorder of Childhood

For girls

The individual shows persistent and intense distress about being a girl and has a stated desire to be a boy (not merely a desire for any perceived cultural advantages to being a boy) or insists that she is a boy.

Either of the following must be present: (1) persistent marked aversion to normative feminine clothing and insistence on wearing stereotypical masculine clothing, eg, boys' underwear and other accessories; (2) persistent repudiation of female anatomical structures, as evidenced by at least one of the following: an assertion that she has (or will grow) a penis, rejection of urinating in the sitting position, or assertion that she does not want to grow breasts or menstruate.

The girl has not yet reached puberty.

The disorder must have been present for at least 6 months.

For boys

The individual shows persistent and intense distress about being a boy and has a desire to be a girl, or, more rarely, insists that he is a girl.

Either of the following must be present: (1) preoccupation with stereotypic female activities, as shown by a preference for either cross-dressing or simulating female attire or by an intense desire to participate in the games and pastimes of girls and rejection of stereotypical male toys, games, and activities; (2) persistent repudiation of male anatomical structures, as indicated by at least one of the following repeated assertions: that he will grow up to become a woman (not merely in role), that his penis or testes are disgusting or will disappear, or that it would be better not to have a penis or testes.

The boy has not yet reached puberty.

The disorder must have been present for at least 6 months.

DSM-5-TR diagnostic criteria for Gender Dysphoria in Children

The DSM-5-TR criteria for gender dysphoria is as follows: [9]

A marked incongruence between one's experienced/expressed gender and assigned gender, of at least 6 months duration and manifested by a strong desire to be of the other gender or an insistence that one is the other gender or some alternative gender different than the assigned gender.

In addition, at least five of the following must be present:

  • In boys (assigned gender), a strong preference for cross-dressing or simulating female attire; or in girls (assigned gender), a strong preference for wearing only typical masculine clothing and a strong resistance to wearing of typical feminine clothing

  • A strong preference for cross-gender roles in make-believe or fantasty play

  • A strong preference for toys, games, or activities stereotypically used or engaged in by the other gender

  • A strong preference for playmates of the other gender

  • In boys (assigned gender), a strong rejection of typically masculine toys, games, and activities, and a strong avoidance of rough and tumble play; or in girls (assigned gender), a strong rejection of typically feminine toys, games, and activities

  • A strong dislike of one's sexual anatomy

  • A strong desire for the primary and/or secondary sex characteristics that match one's experienced gender

The condition is also associated with clinically significant distress or impairment in social, school, or other important areas of functioning.


Summary of Gender Development in Children

As stated above, clinical evidence seems to indicate that babies are indeed born with at least a basic underlying sense of gender identity. Early life provides cues and influences that may affirm or alter this brain bias. The usual course allows the later assumption of a congruent gender identity and role. Gender-variant behavior occurs when gender identity manifests itself in later life and is at odds with the child's sex. This is often a source of great distress because of caregiver fears of later homosexual or transsexual behavior.

The subject of gender assignment or the need for gender reassignment continues to cause heated debate among experts. Reassessment of current guidelines and recommendations continues. Reliance on many of the pioneering theories in the field without consistent follow-up research has allowed the study of gender identity to fall behind that of other psychiatric and human developmental topics. For the time being, the established recommendations, ie, individualized personalized counseling for patients and families, must remain until a broader set of guidelines can be recommended.

As interest in gender identity grows and further research into genetic, hormonal, and environmental factors that affect gender identity is undertaken, a better definition of what exactly makes a person male or female (or both, or neither) hopefully will be found. Increasingly apparent is the fact that greater information about gender identity as an integral part of personality serves only to help in understanding the human condition as a whole. Unusual variations have been described for centuries. Findings and observations over the past 50 years have allowed these variations to be more properly identified. In time, perhaps all the tangible elements of gender development will be known, and all variations, usual and unusual alike, will be comprehended fully.


Guidelines and Standards of Care

In September 2022, the World Professional Association for Transgender Health (WPATH) published version 8 of its Standards of Care (SOC 8) for the health of transgender and gender-diverse people. [10, 11] The updated version now includes a chapter specifically dedicated to the care of adolescents. Some of the new guidelines for adolescents include the following:

  • Healthcare professionals should involve mental health and medical professionals when determining whether puberty suppression, hormone initiation, or gender-related surgery for gender-diverse and transgender adolescents are appropriate and remain indicated throughout the course of treatment until the transition is made to adult care.
  • Providers should consider prescribing menstrual suppression agents for adolescents experiencing gender incongruence who may not desire testosterone therapy, who desire but have not yet begun testosterone therapy, or in conjunction with testosterone therapy for breakthrough bleeding.
  • Prior to treatment, healthcare professionals working with transgender and gender-diverse adolescents requesting gender-affirming medical or surgical treatments should inform these patients of the reproductive effects including the potential loss of fertility and available options to preserve fertility within the context of the youth's stage of pubertal development.

The new guidelines for children highlight that care for prepubertal youth is simply social in nature and distinct from that of pubertal adolescents. Social transition includes things such as using an affirmed name/pronouns and changing hair style and clothes. It does not include medications of any kind. Some recommendations for children include the following:

  • Healthcare professionals should consider consultation, psychotherapy, or both for a gender-diverse child and family/caregivers when families and healthcare professionals believe this would benefit the wellbeing and development of a child and/or family.
  • Healthcare professionals should provide information to gender-diverse children and their families/caregivers as the child approaches puberty about potential gender-affirming medical interventions, the effects of these treatments on future fertility, and options for fertility preservation.

Version 7 of the SOC had established a minimum age of 16 before any partially reversible medications (testosterone, estrogen) were started as part of a patient’s medical transition. SOC 8 removes this minimum age for the initiation of gender-affirming hormone therapy. However, a patient must still have begun their natal puberty before any medication is started.

Similar to SOC 7, SOC 8 continues to stress the importance of a comprehensive, multidisciplinary evaluation of those adolescents who seek medical therapy as part of their transition.