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Gender development and clinical presentation of gender diversity in children and adolescents

Gender development and clinical presentation of gender diversity in children and adolescents
Literature review current through: Jan 2024.
This topic last updated: Dec 05, 2023.

INTRODUCTION — Children generally are assigned a gender at birth based upon genital anatomy or chromosomes. For most children, gender assignment correlates with gender identity, which is the innate sense of self as male or female, a blend of both, or neither. However, some children have a gender identity that is not congruent with their assigned gender at birth. These children are described as transgender or gender-diverse (TGD) youth (table 1). (See 'Terminology' below.)

This topic will provide an overview of gender development and the clinical presentation of TGD children and adolescents. The management of gender diversity in children and adolescents and issues related to gender in children with differences of sex development are presented separately. (See "Management of transgender and gender-diverse children and adolescents" and "Management of the infant with atypical genital appearance (difference of sex development)", section on 'Overview of decisions about sex of rearing'.)

CULTURAL CONTEXT — Cultural differences in concepts of gender, the language used to describe gender, and attitudes toward transgender or gender-diverse (TGD) people may affect expressions of gender identity [1,2]. Many Western societies view gender as binary: male or female. This ideology sets an expectation that gender expression must conform to one or the other and may contribute to the pathologization of gender diversity [2]. In some cultures and families, when the gender expression of a child or adolescent does not fit neatly into the societal construct of male or female in congruence with their birth-designated gender, the child and family may be ostracized or stigmatized.

Alternate perspectives view gender as a continuum from male to female, suggesting a spectrum of gender identities with varying proportions of maleness and femaleness and a wide "world" of opportunities to explore gender, including neither male nor female, or something else entirely [3]. Societies that view gender according to this more fluid or developmental perspective may be more accepting of gender variations [1]. Health care provider recognition and validation of the gender continuum and acceptance of individuals no matter where on the spectrum they identify may help to increase tolerance in families and communities [4].

TERMINOLOGY — Human gender and sexuality are broad and intersecting concepts (figure 1). Cultural and descriptive terms that may be used to describe various aspects of gender and sexuality are listed below (table 1) [1,5,6]. These terms are not diagnostic.

Sex assigned at birth/designated sex or gender – Sex (typically male or female) generally assigned or designated before or at birth, according to chromosomes or external genitalia.

Gender identity – An individual's innate sense of feeling male, female, some combination of both, or neither. Gender identity may not match designated sex/gender and anatomy.

Nonbinary gender identity – Person of any birth-designated sex who has a gender identity that is neither exclusively male nor exclusively female, may be some combination of the two, something else entirely, or fluid.

Other terms that may be used for nonbinary gender identity include genderqueer, gender-creative, gender-independent, bigender, noncisgender, agender, and gender blender, among others.

Gender expression – How gender is presented to the outside world (eg, feminine, masculine, androgynous); "gender expansive" and "gender creative" have replaced "gender variant" to describe people who express themselves outside the socially and culturally defined behaviors typically associated with a particular gender.

Gender expression does not necessarily correlate with birth-designated gender or gender identity. It varies across geography, culture, and time. Some individuals may present their gender differently within different environments.

Gender diversity – Variation from the cultural norm in gender identity, expression, or gender role behavior (eg, in choices of clothing, hairstyle, toys, playmates). "Gender diversity" acknowledges the spectrum of gender identities and replaces "gender nonconformity," which has negative and exclusionary connotations [6].

"Transgender" ("trans" as an abbreviation) – Umbrella term that is used to describe individuals whose gender identity is different from their birth-designated sex. "Transgender" is used as an adjective ("transgender people"), not a noun ("transgenders"), or a verb ("transgendered").

Transgender man/transmasculine individual – Person with a male gender identity who was designated a female sex at birth.

Transgender woman/transfeminine individual – Person with a female gender identity who was designated a male sex at birth.

Gender dysphoria or incongruence – Distress or discomfort that may occur if gender identity and birth-designated sex are not congruent.

Transsexual – Older, clinical term that has fallen out of favor; historically, it was used to refer to transgender or gender-diverse (TGD) people who sought medical or surgical interventions for gender affirmation.

Sexual orientation – An individual's pattern of physical and emotional arousal (including fantasies, activities, and behaviors) and the gender(s) of persons to whom an individual is physically or sexually attracted (gay/lesbian, straight, bisexual);

Sexual orientation is different than gender identity but is often confused with it; the sexual orientation of TGD people is based upon their identified gender (eg, a transmasculine individual who is attracted to other men might identify as a gay man; a transfeminine individual who is attracted to other women might identify as a lesbian).

Sexual behaviors – Specific behaviors involving sexual activities that are useful for screening and risk assessment; many youth reject traditional labeling (homo-, hetero-, bisexual) but still have same-sex partners. (See "Lesbian, gay, bisexual, and other sexual minoritized youth: Epidemiology and health concerns", section on 'Health risks' and "Lesbian, gay, bisexual, and other sexual minoritized youth: Primary care".)

As the understanding of gender identity grows and becomes more sophisticated, professionals and the community struggle to keep pace providing a sensitive and descriptive lexicon that reflects the expanding body of evidence that supports and affirms the child's or adolescent's authentic self and gender identity [1,7]. TGD individuals may choose different terms than those listed above to describe themselves [1,8]. The terms that are used by professionals are less important than being sensitive to the individual's psychosexual profile and desired paradigm.

The Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition, Text Revision (DSM-5-TR) identifies a diagnostic entity "gender dysphoria," which lists a series of experiences commonly endorsed by TGD individuals, followed by the association of distress caused by the incongruence of designated sex and gender identity [9]. Core components of the DSM-5-TR diagnosis of gender dysphoria include long-standing discomfort with designated gender and interference with social, school, or other areas of function.

Although the DSM-5-TR criteria for gender dysphoria may provide some insight into the experience of some TGD persons, there are many TGD persons for whom a diagnosis of gender dysphoria is neither accurate nor appropriate [10,11]. Viewing gender diversity from a developmental, fluid, or emerging perspective rather than a diagnostic and pathologic perspective promotes understanding that all children may experience gender-diverse play and experimentation and may help to reassure families and professionals that exploring gender is a normal component of human development for many youth and adults. (See 'Cultural context' above.)

GENDER DEVELOPMENT IN CHILDHOOD — It is not clear exactly how young children learn about gender. Children become aware of their genitals during infancy and become conscious of gender characteristics at ages nine months to three years [12]. Children between two and four years of age begin to understand gender differences, use gendered pronouns such as "him" and "her," and can identify their own gender. By this age, most children also play with toys and games that typically correlate with their gender assigned at birth [13]. Initially, children may view gender as subject to variation and change; by five to six years of age, their view of gender becomes more constant [14,15].

Young children assume gender stereotypes for themselves and others; preschoolers begin sex segregation, playing more with same-sex peers, and furthering generalizable social constructs and gender-conforming roles and rules [16-18]. In the school-age years, children may relax gender rules and regard gendered activities with more flexibility and choice [16]. However, peer groups generally continue to be same sex; following rules, fitting in, and peer group acceptance is important in school-aged children.

Exploring gender and sexual behaviors is a normal part of child development [19-21]. At some point in childhood, many children experiment with gender expression and roles (eg, interest in other-gender toys and games, wearing other-gender clothes) [10,22]. However, for unknown and probably multifactorial biologic and psychosocial reasons, in some children, other-gender behavior and expression is more consistent, persistent, and insistent than it is among their peers [23-25]. These are not choices per se; they are intrinsic to the child's identity.

Gender development appears to be similar in transgender children and their cisgender peers. In a cohort study, transgender children living in their affirmed identity were similar to their cisgender peers with regard to interests, preferences, and emerging identity development [26]. Supporting a child in exploring or living in their transgender or gender-diverse identity does not appear to change gender identity and provides reassurance that this support does not push children into one or another identity [27]. (See 'During childhood' below.)

EPIDEMIOLOGY — Accurate estimation of the prevalence of gender diversity among children and adolescents is hampered by the social stigma of gender diversity, lack of a standardized definition, and lack of appropriate measurement tools [28,29].

Review of the available research highlights some key points [1,30-33]:

Increasing numbers of children and adolescents are seeking care for evaluation and management of gender dysphoria

Increasing numbers of children and adolescents are presenting to gender clinics with nonbinary identities

Although many children and adolescents sometimes behave or dress outside of typical gender norms, few will go on to desire physical or social gender transition in adolescence or adulthood

In surveys of high school students in the United States, the prevalence of transgender or gender-diverse (TGD) response ranges from 1.4 to 9.2 percent depending upon the definition, the population, and the wording of the survey questions [34-37].

Among youth who self-identify as TGD, the ratio of birth-designated males to birth-designated females varies with the study population. In the Youth Risk Behavior Survey, among students who reported that they were TGD, the ratio of birth-designated males to birth-designated females was 1.5 to 1 in 2017 and 1.2 to 1 in 2019 [38]. Among youth who seek gender-affirming health care, the proportion of birth-designated females is increased, with birth-designated females surpassing birth-designated males in some studies [30,31,39,40]. Changes in the ratio of birth-designated males to birth-designated females in older clinically referred populations may reflect the effects of puberty, development of secondary sexual characteristics, and menstruation that occurs with adolescence.

An association between TGD identity and a diagnosis of autism spectrum disorder (ASD) has been observed, but most studies have been conducted with small clinical convenience samples. One study, however, used a case control design conducted with an electronic medical record database of 919,898 youth ages 9 to 18 years old [41]. Patients with a diagnosis of ASD were three times more likely to have a diagnosis of gender dysphoria than youth without a diagnosis of ASD (adjusted odds ratio [OR] 3.0, 95% CI 2.7–3.3). Of note, a diagnosis of gender dysphoria was used as a proxy for TGD identity in this study.

POTENTIAL PSYCHOSOCIAL CONCERNS AND PROTECTIVE FACTORS

Potential psychosocial concerns — Negative reactions directed at children and adolescents with gender diversity adversely affect their psychological, social, and sexual development. The closer the TGD child's or adolescent's relationship to the source of a negative response, the more damaging the effect.

Children and adolescents with gender diversity are at risk for multiple psychosocial problems, including [28,35,42-67]:

Poor relationships with parents/caregivers, family rejection, and loss of financial support

Social isolation and peer rejection

Verbal and physical victimization, including sexual assault and intimate partner violence [34,68-70]

Decreased sense of well-being and self-esteem

Academic and school problems

Substance use or abuse

Symptoms of depression and/or anxiety [34]

Self-harm and suicidality [71-74]

Homelessness and sexual exploitation

Support from parents or caregivers and early access to gender-affirming care may lessen some of these effects [75-77]. (See 'Protective factors' below.)

Unsupportive family or unstable housing – TGD youth from unsupportive or rejecting families or those who live in socially rigid environments may be bullied, harassed, ostracized, discriminated against, physically assaulted, or even killed [78,79]. In a longitudinal cohort survey, gender diversity before 11 years of age was associated with self-reported increased risk of childhood sexual, physical, and psychological abuse, as well as increased risk of mild-to-moderate depression at age 12 to 30 years [80,81].

Children and adolescents who openly express their desire for toys and clothing that do not correlate with their designated gender may be ostracized, criticized, and victimized by those around them [18,82]. This may contribute to damaged self-esteem, poor adjustment, and the development of internalizing (eg, depression, anxiety) and/or externalizing (eg, aggression, hyperactivity) symptoms [15,83].

Many youth seeking care in the authors' transgender clinics were forced to leave home because of gender diversity [84,85]. In a large cross-sectional study of adolescents attending school, 22 percent of those who identified as a gender minority reported homelessness, compared with only 3 percent of cisgender youth [86]. Furthermore, health disparities associated with homelessness were greater for gender-minoritized youth than for cisgender youth. Homelessness and lack of financial support are associated with other health risks (eg, engagement in sex work, increased risk of human immunodeficiency virus [HIV] and other sexually transmitted infections) [87-90].

Unsupportive school environment Children who are uncomfortable with their body and whose appearance is not gender normative may feel isolated at school and unable to fit in with any particular peer group. The segregation according to perceived gender that occurs in the early school years (eg, sports and activity teams, bathrooms) may be emotionally challenging for TGD children [18]. During middle school and high school, restrictive restroom and locker room policies may be associated with increased risk of sexual assault [91].

Eating disorders – TGD adolescents are at increased risk for eating disorders (EDs) and disordered eating behaviors. A literature review found that TGD adolescents and adults report disordered eating behaviors at a higher rate than their cisgender peers [92]. There appears to be a clear connection between stigma and discrimination to EDs and disordered eating. TGD youth are more likely to be bullied because of their size or shape, which may contribute to disordered eating. In fact, attempting to alter one's size or shape has been identified as a factor impacting TGD youths' relationship with food [93]. Proximal factors associated with EDs or disordered eating include concealment of sexual-minoritized status and internalized transphobia.

Poor mental health Many factors adversely affect the mental health of TGD youth. For example, those who experience fear of and contempt toward their physical self, instinctual behavior, and sexual maturation may develop functional or mental health problems [94]. Stigma and discrimination have considerable negative effects on mental health and contribute to minority stress [47,95]. Physical and emotional bullying and abuse increase risk of posttraumatic stress disorder and depressive symptoms [65,81,96].

Self-harm and suicidality Self-harm (eg, cutting and burning), suicidal thoughts, and suicide attempts are common among TGD youth [56,64,74,97-99]. In a national survey of >120,600 adolescents age 11 to 19 years, the rate of self-reported suicide attempt was increased among TGD youth compared with their cisgender peers [98]. The overall suicide attempt rate among all participants was 14 percent but varied substantially by gender identity: 51 percent in transmasculine adolescents, 42 percent in nonbinary adolescents, 30 percent in transfeminine adolescents, 28 percent in questioning adolescents, 18 percent among female cisgender adolescents, and 10 percent among male cisgender adolescents. In another study, anxiety, depression, and suicidality among TGD children as young as 9 and 10 years old were 2.7, 2.5, and 5.8 times higher, respectively, than their cisgender peers [100].

Protective factors — Parents, caregivers, and families who support their TGD children and adolescents confer protective benefits to their children, resulting in more positive health outcomes [101]. Family acceptance has a positive impact on TGD youth's mental health [102,103], and rates of depression, nonsuicidal self-injury, anxiety, and suicidality are reduced in supportive families [104].

School connectedness is also associated with positive mental health, and having supportive friends reduces anxiety and suicidality [101,104].

Receiving gender-affirming care has been identified as a factor improving TGD youths' relationship with food [93].

ED programs providing care for transgender and nonbinary youth should be inclusive environments with affirmation of gender incorporated into intake paperwork, medical care, and ongoing ED care. Specifically, transgender and nonbinary youth may have different purposes for disordered eating related to affirmation of their gender compared with their cisgender and lesbian, gay, and bisexual peers [105].

CLINICAL PRESENTATION — Transgender or gender-diverse (TGD) children may present in a variety of ways depending upon their personalities, the flexibility of their environment, and their culture [8,106]. (See 'Cultural context' above.)

Most TGD individuals recognize that their gender differs from assigned sex at birth before adolescence. In the 2015 US Transgender Survey, the proportions of respondents that identified that their gender was different from their assigned sex at birth was as follows [107]:

≤5 years of age – 32 percent

6 to 10 years of age – 28 percent

11 to 15 years of age – 21 percent

16 to 20 years of age – 13 percent

≥21 years of age – 6 percent

During childhood — Some young TGD children may prefer clothing, hairstyles, toys, activities, and playmates that usually are stereotypically considered more appropriate for another gender [97,108-110].

TGD birth-designated males may describe an interest in dolls, dresses, wigs, makeup, and feminine characters as role models.

TGD birth-designated females may dislike feminine clothing, prefer short haircuts, role-play in traditionally male roles during dramatic play, and participate in more physical activities.

Other TGD children may prefer to express a gender identity without binary limitations (eg, a gender identity that is fluid, a combination of male or female, or neither male nor female).

Strong social pressures to conform to same-sex gender stereotypes may suppress the child's desire to express as a different gender [10,111]. The child's parents/caregivers and even the child may try to reshape and redirect gendered interests to be more socially acceptable [22]. (See "Management of transgender and gender-diverse children and adolescents", section on 'Mental health interventions'.)

TGD children often do not experience gender dysphoria as defined in the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition, Text Revision (ie, clinically significant distress or impaired social, school, or other important area of function [9]), particularly after undergoing social role/presentation transition to live in a gender role that feels most authentic. They may lack a clear understanding that their internal gender identity does not match their genitals, and the primary distress is related to the inability to be perceived by others as their authentic gender. Gender dysphoria may intensify or emerge as they begin to understand the constancy of designated gender (this generally develops by age five or six years). However, gender dysphoria is unlikely to be recognized if the child is unable or unwilling to express it through activity or verbalization. Children who do not have the language or sophistication to express gender concerns may present in other ways (eg, mood or behavior problems).

Although it is impossible to predict the trajectory of gender identity or expression for an individual child, some children tell their caregivers that a mistake was made and they are in the wrong body, and some children express dislike of their genital anatomy; specifically, having a penis can be extremely difficult for children who identify as girls. Consistent, persistent, and insistent gender-diverse behaviors and expression in prepubertal children appear to be associated with continued gender dysphoria after puberty [94,109,112,113]. (See 'Trajectory' below.)

During adolescence — The physical changes of puberty usually are exceptionally difficult for TGD youth. The development of unwanted secondary sexual characteristics is described by many as a betrayal of one's body, the final confirmation that they must live in an adult version of a body that is not reflective of their true self. In the authors' experience, many TGD adolescents have difficulty functioning academically and socially as puberty ensues.

For various reasons, some TGD individuals may present for the first time in adolescence. TGD youth who have lived "gender-neutral" childhoods may only realize that they are TGD at the onset of puberty [97]. Others, who suppressed feelings and expression of gender diversity during childhood, may experience feelings of gender dysphoria with increased intensity during pubertal development. For such youth, the addition of the incongruence of designated sex to the physical, social, and emotional changes of adolescence can be overwhelming, leading to isolation, anxiety, depression, suicidality, and dangerous behavior (eg, illicit drug use, unprotected sexual activity) [8,28,42-46,106,114]. (See 'Potential psychosocial concerns' above.)

Gender dysphoria that intensifies with the onset of puberty rarely subsides [24,97,113,115].

Disclosure — The age at which a TGD individual (table 1) fully acknowledges their gender identity varies from childhood to old age [116]. In retrospect, many youth acknowledge that early in childhood they felt as if something was "different" about them compared with their peers, but they did not have the words or concepts to describe the discordance between their body and their identity. Many youth begin to recognize this discordance and TGD identity as they listen to and observe other TGD persons in the media or on social networking websites. In addition, delayed acknowledgment may be related to family environment (eg, religious affiliation; family members who are lesbian, gay, bisexual, TGD, queer/questioning) [75], a fear of stigmatization, victimization, or rejection by family, friends, and employers. Some youth may internalize negative and rejecting social messages and are themselves transphobic (ie, fearful of gender diversity), creating further psychological dissonance. Other barriers to disclosure include concerns about confidentiality or decreased access to care.

Specific concerns related to disclosure depend upon the timing of disclosure and social milieu. For a young person who is coming out and disclosing for the first time as a teenager, there are very real and concerning dangers. Planning for both safety and social support are critical to disclosure and transitioning. (See 'Potential psychosocial concerns' above.)

Mental health therapists and medical providers can assist youth in developing a support and safety plan around disclosure (table 2). Youth may want to work in conjunction with advocacy organizations (eg, TransYouth Family Allies, Trans Youth Equality Foundation) to facilitate disclosure to family members, friends, schools, and other organizations with whom the youth and family have contact. Youth and providers should avoid making assumptions about who will or will not be supportive in the disclosure process. Many TGD youth are surprised by family members and friends who become truly supportive and allies; many are devastated by the variety of responses that invalidate or deny their true identity. It is also important to explore networks and allies for caregivers as they proceed through their own cognitive, emotional, and social processing of their child's "new" identity. Social, religious, and emotional support may help caregivers and families who are struggling with these changes. (See 'Role of the medical provider' below and 'Role of the mental health provider' below.)

Many young people disclose to their parents or caregivers in a letter. Some caregivers find out about their child's true gender identity from social networking websites. The choice of how to disclose to one's caregivers largely depends upon the existing relationship between caregiver(s) and the child. Writing a letter allows a young person to fully plan out what words to use and also does not require the young person to witness the caregiver's reaction. Because reactions from caregivers vary widely from acceptance to overwhelming sadness, to disappointment, to anger and outrage, letter writing has become a popular strategy for disclosure.

The internet has provided some young people with a virtual environment in which to "practice" disclosure and live as one's true self with less risk of harm. This is probably why many young people initially disclose on a social media website. The disadvantage of disclosing first to one's cyberfriends is that caregivers may discover the information inadvertently and feel angry or hurt that their child has not shared the information with them. In many instances, parents or caregivers are most concerned about how they will be perceived as parents by family members, friends, and even strangers. While ultimately most caregivers care about the happiness of their child, this initial hurdle often causes great distress for the family. Disclosure decision-making strategies may benefit from the involvement of an experienced mental health therapist. (See 'Role of the mental health provider' below.)

TRAJECTORY

Gender identity trajectory — It is impossible to predict with certainty whether gender diversity in an individual child will continue into adolescence or adulthood [106,117,118]. For some gender-diverse youth, gender identity is expressed at a young age and appears fixed, whereas for others a developmental process contributes to development of gender identity over time [1].

Review of the evidence from prospective and retrospective follow-up studies suggests that gender diversity in prepubertal children continues into adolescence/adulthood in less than one-third of children [24,112,119,120]. Those with consistent, persistent, and insistent gender-diverse behaviors and expression may be more likely to maintain diverse gender identities in the long term [112,113,121]. In a longitudinal study of 958 gender-diverse children and adolescents who did not have a gender dysphoria-related diagnosis and were not receiving gender-affirming hormone therapy at initial presentation, 29 percent received a gender dysphoria-related diagnosis and 25 percent were prescribed gender-affirming hormone treatment during an average follow-up of 3.5 years [120]. The proportion who progressed to gender dysphoria-related diagnoses increased with age at initial presentation (16 percent of those age 3 to 9 years; 28 percent of those age 10 to 14 years; and 37 percent of those age ≥15 years). Progression to gender dysphoria was more frequent in participants designated female at birth than those designated male at birth (33 versus 24 percent).

Sexual orientation trajectory — As with gender identity, the trajectory of sexual orientation is impossible to predict in an individual transgender or gender-diverse (TGD) youth. Predicting the trajectory of sexual orientation is complicated by the lack of clarity about what is meant by "heterosexual" or "homosexual" in TGD youth (ie, is the categorization made according to birth-designated gender or gender identity) and the broad and evolving concepts of sexual identity (eg, pansexuality; asexuality; other nonbinary, more fluid ways to be sexual).

Longitudinal studies (most of which were performed in birth-designated males) suggest that among individuals with gender diversity in childhood who eventually affirm a gender identity congruent with birth-designated sex, there is an increased likelihood of attraction to sexual partners of the same birth-designated gender or multiple genders (eg, for a birth designated male, attraction to birth-designated males, birth-designated females, and/or nonbinary people) compared with individuals without gender diversity during childhood [112,117]. In the author's (JO's) experience, approximately one-half of birth-designated females with male gender identities report being attracted exclusively to female partners, and one-half of birth-designated males with a female gender identity report being attracted exclusively to male partners.

ROLE OF THE MEDICAL PROVIDER — Given the increasing numbers of youth who seek gender-related care services, we encourage all pediatric health care providers to maintain an updated gender lexicon (table 1) and be familiar with ways to interview youth that support gender diversity (table 3). This information may not have been provided during medical education and training [122,123].

Individual clinicians may have different levels of comfort or expertise with transgender or gender-diverse (TGD) youth. Clinicians who are neither comfortable nor sufficiently knowledgeable to treat TGD patients should refer them to more experienced colleagues [28,116].

Identification — Early identification of children who are struggling with gender identity may help to prevent adverse mental and/or physical health consequences. Early identification permits psychosocial support for the child or adolescent and their family members. Family rejection has negative health consequences for TGD youth [87,88]. Families who are open to working with a therapist experienced in gender care can get the necessary support and resources to best help their child and keep the family unit together [109].

For appropriate patients, early identification also allows the option of medical intervention to avoid the development of permanent unwanted secondary sexual characteristics, the alteration of which may otherwise involve costly future interventions or surgeries. (See "Management of transgender and gender-diverse children and adolescents", section on 'Suppression of endogenous puberty'.)

Discussing gender and exploring gender diversity – Gender is a ubiquitous aspect of the human experience. During routine well-child visits, it is important for primary care providers to screen for concerns about gender development and to ask caregivers and children about the child's play, activities, and how the child feels about their gender identity, upcoming puberty, maturing body, and other changes that accompany puberty and adolescence. (See 'Resources' below.)

In some cases, gender diversity is apparent to the clinician; in others, the patient or caregivers may raise the issue. In these cases, further exploration of gender diversity is warranted (table 3).

Because some children and adolescents are reluctant to disclose or outwardly express their gender diversity, it is also important to ask specific questions about gender and perceived gender identity in children who have nonspecific mood or behavior concerns as well as those who are visibly gender diverse.

For younger children, the concept may be introduced as follows:

"Most kids have a feeling about whether they are a boy or a girl. How do you feel? Do you feel more like a boy, girl, someone in between, or someone different?… PAUSE… Tell me more, since I talk with a lot of kids whose body and brain may not be exactly on the same page when it comes to being a boy or girl?"

For older youth or teens, practitioners might ask [4,124,125]:

"Many young people have questions about and sometimes struggle with gender. Is this an issue for you?"

"Some teens explore who they are in terms of their gender or try to figure out whether they identify more as a male, female, or someone and somewhere in between. How do you identify yourself?"

"Many young people are impacted by gender and sexuality. It is normal for kids to explore these ideas and their identity. I ask everyone about it. Anything you say about gender and sexuality will be kept private. We are here to help you figure things out in a safe and healthy way."

"Out of respect for my patients' right to self-identify, I ask all patients what gender pronoun and name they would like me to use for them. What pronoun and name would you like me to use for you?"

Monitoring for associated concerns — Primary care clinicians should ask patients with gender diversity about associated concerns, such as (see 'Potential psychosocial concerns' above) [10,124,126]:

Degree of social isolation, bullying

Declining school performance and feeling unsafe in school settings

Disrupted family relationships

Running away/homelessness

Health risk behaviors (eg, unprotected sex, multiple sexual partners, substance use, self-harm, suicidal ideation)

Medically unsupervised use of hormones or "herbal" hormones (eg, phytoestrogens or androgen-like compounds sold as dietary supplements)

Confidentiality — It is important to know and understand national, state, and institutional laws and policies regarding confidentiality [127]. Most states have laws protecting confidentiality regarding testing for HIV and other sexually transmitted infections. However, states may not protect confidentiality regarding gender and sexuality. Working with youth to allow full honest disclosure requires trust, respect, and some assurances of privacy and confidentiality. Privacy and confidentiality regarding gender, sexual orientation, and sexual behaviors is promoted by major health professional societies (eg, American Academy of Family Physicians, American Academy of Pediatrics, American College of Obstetricians and Gynecologists, and the Society for Adolescent Health and Medicine) [6,49,128-130]. (See "Confidentiality in adolescent health care" and "Sexual development and sexuality in children and adolescents", section on 'Permission, privacy, and confidentiality'.)

Education and support — The primary care clinician can provide information, support, and guidance to the patient and family members [4,28,106,131,132]. Given the potential mental and physical health consequences of gender diversity in an unaccepting environment, it is important for health care providers to be nonjudgmental and to support their patients in their asserted gender identity [6,7,133].

Specifically, the health care provider can [8,18,24,28,106,131,134-138]:

Use their identified name and pronouns.

Help parents and caregivers understand that the trajectory of gender diversity in prepubertal children is not predictable and that the most important task is supporting the child and making them feel loved. Children who are not accepted and supported by their caregivers risk isolation and increased anxiety. (See 'Potential psychosocial concerns' above.)

Acknowledge the range of emotions that caregivers may experience when presented with a TGD child (rage, confusion, shock, grief at the loss of expectations that they had for their child) and help the caregivers to support their child while working through their own concerns with a mental health provider. Therapy or caregiver-to-caregiver support groups may be helpful in this regard. (See 'Resources' below.)

Suggest that the family follow the child's lead with respect to clothing and hairstyles, making compromises to fit the family's comfort and cultural context.

Encourage caregivers and families to embrace a wide range of appropriate behaviors for all children and to understand and accept behaviors that fall outside the cultural norms for birth-designated sex, emphasizing that gender variance is possible without necessarily altering one's gender identity or body; caregivers can demonstrate their acceptance of gender and sexual differences by sharing books or watching programs that feature gender or sexual minoritized characters in a positive light. (See 'Resources' below and "Management of transgender and gender-diverse children and adolescents", section on 'Approach in prepubertal children'.)

Recognize that TGD youth will look for information about transitioning, hormones, and surgical interventions on the internet because such information may not be available through traditional means.

Provide reliable information about the various treatment approaches, highlighting the importance of the caregivers following the child's lead and allowing for the possibility of the child's journey changing over time; when discussing the possibility of puberty suppression, it is important that the patient and caregivers know the signs of early puberty (bearing in mind that TGD children may limit opportunities to be seen naked). (See "Management of transgender and gender-diverse children and adolescents", section on 'Types of interventions'.)

Help the child and family create plans for safety, responses to bullying (including cyberbullying), and other social biases (discuss potentially hurtful responses from peers and teachers and suggest and practice helpful responses).

Help youth and caregivers plan for disclosure to extended family, friends, and social contacts, work with the mental health therapist to develop a safety plan around disclosure. (See 'Disclosure' above.)

Help the family determine if or when a social and/or a physical affirmation should occur and to prepare for all aspects of the affirmation process (eg, school issues, reactions of extended family members, friends, neighbors, religious community). (See "Management of transgender and gender-diverse children and adolescents", section on 'Social transition'.)

Provide medical documentation for name change, gender change, and other official documents as necessary; the Transgender Law Center website, among others, provides information about what to include in the medical documentation. (See "Management of transgender and gender-diverse children and adolescents", section on 'Types of interventions'.)

Advocate for the child or adolescent in the school system and community (eg, by providing letters of support for the child's expression of their gender identity, educating staff and students within the school system).

Referral — Primary care providers can help with referrals for TGD youth and/or their family members:

Referral to a specialized clinic or provider for children with gender diversity may be warranted for children and adolescents with consistent, persistent, and insistent gender-diverse behaviors and expression, unremitting dysphoria that is impacting function, or for more in-depth support and resources than the primary care provider feels they can provide.

Primary care providers may coordinate care, offer in-clinic injections of long-acting gonadotropin-releasing hormone (GnRH) agonists closer to home, and provide clinical and laboratory monitoring for their patients who receive hormonal interventions. However, many states within the United States have or are passing laws to prohibit the use of GnRH analogs and other medical interventions for minors. (See "Management of transgender and gender-diverse children and adolescents", section on 'Overview of hormonal interventions for adolescents'.)

Referral to a mental health provider who has worked with children and adolescents with gender identity concerns may be warranted for youth with evidence of gender dysphoria (eg, aversion to aspects of their body associated with sex; wish to live as a different gender); anxiety, depression, or suicidality; or significant interpersonal conflicts with peers (eg, bullying) or caregivers [18,125]. (See 'Role of the mental health provider' below.)

Referral to a mental health provider or caregiver support groups also may be warranted for caregivers of TGD children and adolescents who are uncomfortable with their child's behaviors or identity [18,106]. Caregivers may experience a range of emotions when presented with a TGD child. It is common for parents to have rage, confusion, shock, and grief. They may mourn the loss of expectations they had for their child. (See 'Resources' below.)

ROLE OF THE MENTAL HEALTH PROVIDER — Although mental health therapists who have experience working with children with gender-identity concerns are an essential part of the health care team for transgender or gender-diverse (TGD) youth, referral to a mental health provider is not a requirement for access to consent-based patient- and family-centered care for TGD youth.

Mental health therapists may [1,8,131,139-141]:

Assess gender identity in the context of the youth's psychosocial and family milieu and evaluate the extent of gender dysphoria

Educate about and model acceptance of diversity and fluidity in gender and sexuality

Address the negative impact of gender dysphoria and stigma on mental health [142]; alleviate internalized transphobia (ie, fear of gender diversity)

Provide support and help to build the resiliency/coping skills necessary to navigate difficult social, educational, and professional situations (see 'Potential psychosocial concerns' above)

Evaluate and treat mental health symptoms or conditions that may diminish self-esteem or impede successful transition (eg, depression, anxiety, substance abuse)

Provide support to caregivers and family members who have difficulty adjusting to the child's "new" identity

Provide information about gender diversity to caregivers, family members, teachers, schools, and other communities

Assist in the development of a safety plan around disclosure (see 'Disclosure' above)

Assist in transition preparation and planning (see "Management of transgender and gender-diverse children and adolescents", section on 'Social transition')

RESOURCES — Resources for patients, families, and providers include:

American Academy of Pediatrics: A Pediatrician's Guide to an LGBTQ+ Friendly Practice

Children's National Health System Gender Development Program

Gender spectrum

National Center for Education in Maternal and Child Health at Georgetown University

TransYouth Family Allies

Trans Youth Equality Foundation

University of California, San Francisco Center of Excellence for Transgender Health

TransActive Gender Center

World Professional Association for Transgender Health

Supporting & Caring for Transgender Children (produced in partnership between the Human Rights Campaign Foundation, the American Academy of Pediatrics, and the American College of Osteopathic Pediatricians)

Gender Identity Research and Education Society

Books for children, adolescents, families, and therapists are listed in the table (table 4).

SOCIETY GUIDELINE LINKS — Links to society and government-sponsored guidelines from selected countries and regions around the world are provided separately. (See "Society guideline links: Transgender health" and "Society guideline links: Adolescent sexual health and pregnancy".)

SUMMARY

Terminology – Children who have a gender identity (innate sense of maleness or femaleness) that does not correspond with their birth-designated gender (based upon genital anatomy or chromosomes) are referred to as transgender, nonbinary, or gender-diverse (TGD) (table 1). (See 'Terminology' above.)

Gender development – It is not clear how young children learn gender, but they are aware of gender differences in infancy. Many children experiment with gender expression and roles at some point during childhood. Gender development is similar in TGD children and their cisgender peers. (See 'Gender development in childhood' above.)

Clinical presentation of gender diversity – TGD children present in a variety of ways depending upon their personalities, the flexibility of their environment, their culture, and their gender identity (eg, male, female, nonbinary, fluid). (See 'Cultural context' above and 'Clinical presentation' above.)

Prepubertal children with gender diversity may prefer clothing, hairstyles, toys, activities, and playmates that usually are typical for another gender and may desire genitals that correspond with their gender identity.

Pubertal youth and adolescents may present with increased distress related to the physical changes of puberty.

Children and adolescents who are unable to express their gender concerns may present with emotional or behavioral problems.

Associated concerns – Minority stress appears to be an underlying source for multiple psychosocial problems in TGD youth, including poor relationships, social isolation, verbal and physical victimization, decreased sense of wellbeing, school problems, symptoms of depression or anxiety, self-harm and suicidality, and homelessness. Disclosure of gender diversity requires planning for continued options for care along with maintaining safety in home, school, and community settings. (See 'Potential psychosocial concerns' above and 'Disclosure' above.)

Gender dysphoria trajectory – It is impossible to predict with certainty whether gender diversity in an individual child will continue into adolescence or adulthood. Children with consistent, persistent, and insistent gender-diverse behaviors and expression may be more likely to maintain diverse gender identities in the long term. Gender dysphoria that intensifies with the onset of puberty rarely subsides. (See 'Trajectory' above.)

Role of the primary care provider – Primary care providers play an important part in the recognition of gender diversity, monitoring for associated concerns, providing education and support, and facilitating appropriate referrals for the patient and family members. (See 'Role of the medical provider' above.)

Role of the mental health provider – Although referral to a mental health provider who has worked with TGD children may be valuable for youth and families who are struggling to come to terms with gender diversity, referral to a mental health provider is not a requirement for access to consent-based patient- and family-centered care for TGD youth. (See 'Role of the mental health provider' above.)

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Topic 83665 Version 60.0

References

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