Affirming gender: Caring for gender-atypical children and adolescents

Case 1

Your patient Mark comes to his 3-year-old well-child checkup wearing a dress and also barrettes in his hair. During the visit, you mention to the parents, “I notice Mark’s creative outfit today. Is that something you want to talk more about?” The parents mention that Mark has been wearing this dress every day since his female cousin came to visit. He likes to tell people that his name is “Katie” and that when he grows up he wants to be a girl like his cousin. When adults correct him, he doesn’t really seem to mind, saying, “I’m just playing pretend.”

Case 2

It is time for your patient Alex’s 8-year-old well-child checkup. Alex was assigned female at birth, but since he was able to talk, he has been insistent that he is a boy. He was so distressed when adults corrected him that he told his parents he wanted to die. Alarmed, and conscious of what their child was telling them, Alex’s parents facilitated his enrollment in kindergarten as a boy and allowed him to wear typical “boy” clothing. They trained the school staff about gender issues, and his state’s law recognizes gender as a protected class. The children have not had any problems adjusting. Alex is a top student and plays on the boys’ T-ball team.

Case 3

Your patient Nicole comes to his 12-year-old well-child visit, and you immediately notice something different. He will not make eye contact beneath his baseball cap. Assigned female at birth, he has told his parents that he is a lesbian. When you meet with Nicole alone, he says that he knows that he is attracted to girls but does not feel like a lesbian. Instead, he feels like a boy (thus the use of male pronouns per his request). He says he has felt this way for a long time but just thought it meant he was a tomboy. Now that he is getting breasts, he has become very depressed about feeling as if he is going through the wrong puberty. 

Families who are concerned or seeking information about their child’s gender expression or identity often turn to their primary care providers (PCPs) for help. As pediatricians, we are in a powerful position to promote health and positive outcomes for these children; however, few of us have received any formal education or training to grapple with this increasingly common issue.¹ The goals of this article are to help the general pediatrician develop a basic understanding of gender, and offer ways to approach gender-expansive and transgender children or adolescents.

The first step is to examine our own feelings, attitudes, and beliefs about gender and consider how these affect our work with youth. Equally important is educating ourselves on the diversity of gender in our patients and the corresponding interventions available for supporting them. Adopting supportive, affirming practices, such as intake forms that allow for the patient’s preferred name and pronouns (and using them accordingly), is another critically important step for helping young persons feel comfortable. In addition, medical professionals can be effective advocates for their transgender patients’ needs and rights in settings outside the clinic, such as home and school.²

What is gender?

“Gender identity” is defined as the internal sense of oneself as male or female or other. Numerous studies support the concept that gender identity is not simply a psychosocial construct but likely reflects a complex interplay of biologic, environmental, and cultural factors.³ Most individuals have a gender identity that is aligned with the sex that was assigned at birth based on external genitals. The term “cisgender” is often used to describe those who have a gender identity aligned with anatomic sex. Children are aware of their gender identity generally by age 2 years or younger. “Gender expression,” on the other hand, refers to the way an individual communicates his or her gender within the community and culture, and can include name, haircut, pronouns, and clothing, among others.

Many children display periods of nonconforming gender expression, which typically does not persist into grade school years. Some children, at very young ages, recognize that their gender is different from the sex they were assigned at birth, conveying this sense through their identity, expression, or both, and sometimes correcting the adults around them, such as Alex in case 2. These children may be referred to as “gender expansive,” or sometimes “gender creative,” “gender nonconforming,” or “gender independent.” Regardless of the label, this is a naturally occurring phenomenon representative of the diversity of human experience. If met with rejection, suspicion, or negative responses, children may internalize that there is something wrong or shameful about their sex-gender discrepancy. This internalization can lead to high rates of depression, anxiety, and other negative health outcomes.^4–6

“Transgender” is an umbrella term that refers to an individual with a gender identity that does not conform to expectations based on the sex they were assigned at birth. Some transgender children will eventually seek out medical therapies at or after puberty, including hormone blockers, cross-sex hormones, and surgery, to establish an external appearance that more closely aligns with their gender identity. Still other children, called “gender fluid,” do not identify clearly as completely male or female, but as somewhere else on a spectrum of gender.

(For a list of definitions regarding these and other terms, see "Appendix: Definitions" at the end of this article.)

Prevalence and natural course

Epidemiologic studies documenting the prevalence of transgender adults have been inconclusive and are nonexistent for transgender youth. It is clear, however, that referrals of gender-expansive and transgender children to specialty pediatric centers such as the Child and Adolescent Gender Center (CAGC) at the University of California, San Francisco (UCSF) Benioff Children’s Hospital are rapidly increasing, although it is not known whether this is because of increased prevalence or increased recognition or acceptance.^4,7,8

Gender-nonconforming behavior and gender expression in young children are common, with gender-atypical behavior reported in about 23% of boys and 39% of girls.⁹ Research shows that most of these children will not become transgender adults.¹⁰ Some of them may grow up to be gay or bisexual, as several studies have shown associations between early gender-nonconforming behavior and later same-sex attraction.^11,12 All these children are at high risk for adverse health outcomes if not met with supportive and affirming environments. It is clear that although professionals and parents can influence the youth to change their external presentation of gender, they cannot change the young person’s internal sense of self and such pressure can lead to alarming mental health consequences, including high rates of suicidal ideation.⁶

Although more research is needed to provide predictive variables regarding which gender-expansive children will become transgender adults, some unifying trends are evident among those young children whose gender-nonconforming expression predicts later transgender identity. These factors include persistence, insistence, and consistency in affirmations of their cross-gender identity early in life; tendency to make declarative statements such as “I am a boy (or girl)” rather than “I want to be (wish I were) a boy (or girl)”; significant distress about their body (often referred to as “body dysphoria”); cross-gender expressions not as play but as authentic expression of affirmed gender; and later great distress when either undergoing pubertal changes in the “wrong” gender or when forced to present themselves as a gender that does not align with their internal sense of self.¹³

Gender identity vs sexual orientation

Although often discussed together, gender identity is a separate developmental track from sexual identity or orientation. Gender, the internal sense of self as male/female/other, appears very early in life. Sexual orientation, or one’s attraction to other people, generally does not appear until later childhood. Transgender individuals can have any sexual orientation. That is, they can be attracted to people of the same, different, or any gender. When discussing the sexual orientation of a transgender individual, it is appropriate to use that person’s affirmed gender as opposed to their sex assigned at birth.

Some gender-expansive children are diagnosed with gender dysphoria (GD), characterized by “a marked incongruence between one’s experienced/expressed gender and assigned gender of at least 6 months duration.”¹⁴ For this diagnosis, assigned gender refers to the “natal gender,” based on the “initial assignment as male or female,” typically based on the physical sex characteristics present at birth. Prior to the 2013 revisions of the Diagnostic and Statistical Manual of Mental Disorders(DSM-5), this diagnosis appeared as gender identity disorder (GID), and the shift from GID to GD resulted from a complex discourse among mental health researchers and practitioners. Many providers, including the American Psychiatric Association, as well as the authors of this article, do not consider gender-expansive or transgender identities to be pathologies, instead recognizing them as a normal variation of human experience. The dysphoria is recognized as resulting from a mismatch of body and mind and resultant psychosocial stresses, and very often resolves with medical transition and/or with greater acceptance from the communities surrounding these youth.⁴

Although controversial because of the implication of disease, the diagnostic criteria have allowed for standardization of research studies as well as access to mental health and medical services for this population. As time has passed, we have seen more children presenting as transgender or gender nonconforming without any associated dysphoria. We see this as a sign of change in public support and understanding. This is also a sign that these children are being raised in healthy, affirming environments. We suspect that this will become more common in the future and we will see more positive outcomes for these children.

Gender-affirming pediatric practices

Following is a review of issues faced by gender-expansive and transgender children across various ages, along with suggestions for how pediatricians can respond in a manner that affirms the patient’s gender experience.

Ages 0 to 4 years

Children in this age group, such as Mark in case 1, are generally aware of their gender and able to express it to the adults around them. Exploration of sexual organs and all forms of gender expression are very common in this age group and a normal part of all children’s development. Pediatricians can ask, in a nonjudgmental manner, “Do you have any concerns about your child’s sexual or gender development you’d like to discuss today?” When parents express concerns, it is important to reassure them that their child’s gender exploration is a healthy and normal part of development and should be supported. Both providers and parents, however, should avoid labeling this as “just a phase.” Even though it likely will be short-lived, it sends the message that we are waiting for the child to grow out of undesirable behavior. Given that gender is a part of every child, it is appropriate to ask nonjudgmental questions about gender for any child, regardless of their outward appearance or behavior.

Children who show a persistent identification with a gender that does not conform to their assigned sex and become upset when approached with rules that limit their gender expression may be at high risk for the internalized distress described earlier. Parents should take extra caution with these children, because efforts to restrict their child’s gender expression and impose the parents’ wishes (eg, forcing a natal girl to wear a dress or a natal boy to cut his hair) can create significant psychological problems.

Ages 5 to 9 years

School-aged children typically have a strong sense of their gender identity and choose activities, playmates, hairstyles, and clothing that align accordingly. At this age, a girl whose gender expression includes male hairstyle or clothing is generally labeled a tomboy. In some communities this is socially acceptable, but in others this may be met with rejection. Some of these tomboys may indeed be transgender children whose gender variance has persisted beyond their preschool years, altlhough some of them will eventually become cisgender women. Many boys at this age who are perceived to be more feminine are bullied, and both boys and girls who are gender nonconforming face high levels of peer rejection and school victimization.¹⁵

Although some of these youth may have their gender affirmed and supported by the adults around them, many others will change their gender expression to conform to social norms and align with the expectations of their peers. The pediatrician should be mindful for signs of stress, including depression, anxiety, poor school performance, and various forms of acting out. Many school-aged children show distress by harming their bodies through either attempted mutilation of their genitals or suicidal attempts or gestures.^5,6 Therefore, it is critically important for pediatricians to screen school-aged children for any distress associated with gender variance. Pediatricians can ask children and parents, “Do you feel more like a boy or a girl or maybe something in-between?” and “Do adults or other children ever pick on you for how you express being a boy or a girl?” Pediatricians may be surprised how many children answer “yes” to this latter question, because gender-based bullying is disturbingly common for all children.

Social transition

Many prepubertal gender-expansive children will undergo what is often called a “social transition.” This means that these children will change their name, pronouns, and external appearance to align with their affirmed gender, such as Alex did in case 2. This generally involves efforts by the parents, school, and other institutions affecting the child to come to agreement about the child’s care and support. These social transitions are completely reversible if the child, with family support, later desires to transition back or forward to some other iteration of gender. Experience has shown, however, that not allowing such transitions can have serious negative consequences; that very few, if any, children later detransition; and that early social transition can significantly reduce psychological distress and replace it with well-being.⁴ It is also important to keep in mind how the child’s transition will play out for the child at school.

Ages 8 to 14 years (early puberty)

Early puberty can be a distressing time for all children as their bodies change and youth become aware of their attractions to others. At this point, many gender-expansive children will not persist as transgender adolescents. For transgender teenagers, however, who often feel as if their bodies are betraying them as they undergo the “wrong” puberty, this is a time of increased suicidal attempts and ideation, depression, and anxiety. Assigned females with a male gender identity, such as Nicole in case 3, who may have previously been accepted as a tomboy, are now developing breasts and starting to menstruate, changes that can feel horrifying to them. For transgender girls (assigned male at birth with a female gender identity), many of puberty’s changes, including voice deepening, body hair, stature, and facial masculinization, are similarly distressing and will be irreversible after they occur.

Unfortunately, far too many gender-expansive youth face rejection or worse at home, in school, and from their community at large. These vulnerable young people are at great risk of entering child welfare or juvenile justice systems, where they may have few if any advocates who understand their complex needs. Pediatricians should be alerted that some of the older gender-nonconforming youth in their care are in such situations, which will require an even greater level of sensitivity and affirmation. Special consideration should be given to both their medical needs and their psychological care. Further, it is incumbent on any provider to be aware of and be able to make referrals to community support programs wherever possible.¹⁶

Puberty blockers and medical transition

For transgender children, both the Endocrine Society (ES) and the World Professional Association of Transgender Health advocate using gonadotropin-releasing hormone (GnRH) agonists as puberty blockers to delay the onset of irreversible changes of puberty (Table).^17,18 These medications are completely reversible, putting a pause on physical puberty changes and giving the child (and caregivers) more time and emotional room for making long-term decisions. This period allows the child to explore gender identity and develop the adolescent cognitive skills needed to make further decisions about changing his or her body. It also gives the family time to come to a better understanding of their child’s experience.

Youth undergoing treatment with puberty blockers and then deciding to begin cross-sex hormone therapy later in puberty can avoid undesirable changes such as breast development, voice changes, facial masculinization, and body hair growth that may require expensive and often disappointing surgical procedures to correct. Earlier medical transitions are associated with more satisfactory outcomes and a greater facility to blend into the affirmed gender, resulting in less social stigma.^19–21

The GnRH agonists are available as either depot 1- or 3-month injections or as yearly implants, and are approved by the US Food and Drug Administration for central precocious puberty. They have been used for transgender youth in the Netherlands for over 20 years with excellent outcomes and safety profiles.^18–21 These GnRH agonists are now used off label in the United States for this purpose.^2,4,7 Although generally administered under the care of a pediatric endocrinologist starting at early puberty (sexual maturity rating 2 or 3), family practitioners, adolescent medicine specialists, and pediatricians also can prescribe them, especially in areas where a pediatric endocrinologist with competency in transgender issues is not readily available. One major downside of GnRH agonists is the cost, which can be prohibitive for some families. These medications, however, are increasingly covered by insurance plans.

Potential risks of using GnRH agonists in early pubertal transgender youth are lack of pubertal accrual of bone density (which is likely reversed with cross-sex hormone treatment or cessation of therapy), compromised fertility, and unknown effects on brain development.^3,21 Given these possibilities, it is important to review risks, benefits, and expectations with the child and the parents prior to starting therapy, and to ensure adequate intake of vitamin D and calcium with routine monitoring of bone health.

Before beginning these medications, children should undergo a psychological evaluation with an experienced gender-affirming therapist who adheres to the practice of enhancing a child’s authentic gender, rather than attempting to change the child’s gender to conform with social norms.²² The assessment is conducted primarily to document the youth’s gender nonconformity and/or dysphoria; ensure there are no underlying psychiatric disorders that may worsen with treatment; and assess levels of support for the child. In addition, ongoing therapy may be helpful for some children who are unclear regarding their gender identity or the level of medical intervention they desire.

For parents who are opposed to or uncertain about consenting to use hormone blockers, it is important to explore their feelings and reassure them about the reversibility of blockers as well as the potential harms averted (depression and suicidality) when these are initiated. Often it is the parents more than the child who need psychological support from a mental health professional during this time. In addition, it is typical for parents to be concerned about later feelings of regret for these decisions, especially if their child moves on to cross-sex hormones. They can be reassured that follow-up studies have shown that few, if any, individuals have regretted their decision to transition and that mental health improves with access to medical intervention.^4,19

Ages 14 to 18 years (late puberty)

By later in puberty, many adolescents are developing a more mature and focused sense of themselves and their life goals. At the same time, they may be experimenting with sexuality and substances, and conflicts with caregivers may be escalating. Transgender adolescents are experiencing all these changes as well as living in a body that may not fit their conception of their gender. They may have already gone through their natal puberty, or they may be on GnRH agonists and considering starting cross-sex hormones.

The ES guidelines recommend initiating cross-sex hormone therapy at age 16 years. In the United States, many providers are starting these medications at age 14, and some even at ages 12 or 13, mainly because of the earlier ages at which children are transitioning to their affirmed gender and the concerns over allowing teenagers to go through a puberty concurrent with their peers. For adolescents who already have been on hormone blockers for some years, there is also a concern about enabling bone density normalization.³ An adolescent who is already on hormone blockers can choose to continue on these and then initiate cross-sex hormone therapy, or can go off the hormone blockers and initiate cross-sex hormones as a monotherapy (if a natal female, undergoing phenotypic transition to male), or in combination with an androgen blocker (if a natal male undergoing phenotypic transition to female).

At the UCSF Benioff Children’s Hospital CAGC, we prefer to have teenagers who elect to proceed to cross-sex hormone treatment continue on their hormone blockers if financial considerations allow it. The rationale for combination treatment is that lower doses of cross-sex hormones may be used to achieve phenotypic transition, with correspondingly lower risks for adverse effects of cross-sex hormones.

For those seeking a female transition, puberty is initiated with 17 b-estradiol as transdermal patches or oral pills taken sublingually. The transgender female will also need a separate medication to block the body’s androgen production, such as GnRH agonists or spironolactone. The latter medication blocks androgen production as well as androgen action. For those seeking a masculine transition, puberty is initiated with testosterone propionate or cypionate via subcutaneous or intramuscular injections. These medications are increased gradually over 2 to 3 years to simulate a natural pubertal progression. Longitudinal studies in the Netherlands show excellent psychosocial, medical, and quality-of-life outcomes and no major adverse effects with early use of puberty blockers followed by cross-sex hormones.¹⁹

Many times, youth have already gone through their biological puberty by the time they seek medical transition. For these youth, we use the same medications but titrate them more quickly. The Primary Care Protocol for Transgender Patient Care of the UCSF Center of Excellence for Transgender Health is a helpful on-line resource for the risks and benefits of these medications, expected physical changes, and dosing protocols.²³

Sexuality

It is important to counsel transgender teenagers about substances and sexuality with the same care and sensitivity as you would counsel all adolescents. Specific screenings for sexually transmitted infections and pregnancy should be based on the genitals the youth has and uses for sex. All teenagers who have a vagina and a uterus should be aware of the potential for unintended pregnancy because many transgender males do not consider themselves at risk. All teenagers should be counseled on condom use and barriers such as dental dams for any body part that comes into contact with a partner’s body part.

Adolescents and their parents also may have questions about disclosure and safety for transgender youth who are dating. Sadly, the potential for violence is very real for transgender young persons in these situations, and it is critical that parents anticipate this possibility and support their child to plan accordingly. Although there are many ways to approach these questions, it is important that adolescents and their caregivers feel comfortable talking openly and that the caregivers initiate this conversation with their teenager as early as possible, before initiation of dating and sex. A good resource for trans youth sexuality is the book Trans Bodies, Trans Selves.²⁴

Fertility

Many parents and children will be concerned about the fertility implications of starting cross-sex hormone treatment. Puberty suppression will prevent ovulation and spermatogenesis. If a child then proceeds directly to cross-sex hormones, use of their own gametes in the future for fertility is not likely with current technology, although options for cryopreservation for prepubertal ova do exist. If a child decides to stop hormone blockers and go through endogenous puberty until at least Tanner stage 4, it will expand the options for future fertility, although the child will also experience undesirable and irreversible pubertal changes. It is important for the provider to discuss these options with the family and the youth, as well as alternative pathways to creating families (eg, adoption or potential reproductive technologies) to make the best possible decision. For many youth, preventing undesired puberty changes is so important that they are willing to forgo the potential for using their own eggs/sperm and will eventually pursue other options in family building.

Surgery

At the end of puberty and beginning of adulthood, many transgender individuals will seek out surgical changes to their body. The most common surgical procedures are those attempting to reverse pubertal changes that make it challenging for youth to blend in their affirmed gender, such as breast removal or facial feminization and electrolysis. For youth who have previously been on hormone blockers and not undergone these changes, these surgeries will not be necessary. Genital confirmation surgeries are generally more complex and costly and require lengthy hospitalization and recovery. Not all transgender adults will choose to undergo surgery, and the decisions are complex and individual. It is important for the provider to respect the affirmed gender of the person without regard to their genital status.

Conclusion

As gender diversity crosses every culture and geographic area, most pediatricians will encounter a gender-expansive or transgender patient at some point in their career. Because general pediatricians are often the first point of contact within the healthcare system for gender-nonconforming/gender-expansive and transgender children and teenagers, it is essential that such providers are familiar with the psychological and medical approaches to care for this population.

Although most youth and families will continue to work with their primary provider to ensure the best possible care, often these patients benefit from a multidisciplinary specialty approach in partnership with their PCP. There are now specialty centers such as UCSF Benioff Children’s Hospital CAGC for transgender youth in all regions of the country, with a comprehensive list available.²⁵ Given the complexity of issues facing this vulnerable population, working in unison across all domains of a young person’s life will be our best approach to strengthening the gender health of our young patients.

REFERENCES

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13. Ehrensaft D. Gender Born, Gender Made: Raising Healthy Gender-Nonconforming Children. New York: The Experiment; 2011.

14. American Psychiatric Association. Diagnostic and Statistical Manual of Mental Disorders (DSM-5). 5th ed. Arlington, VA: American Psychiatric Publishing; 2013.

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16. Marksamer J, Spade D, Arkles G. A place of respect: a guide for group care facilities serving transgender and gender non-conforming youth. San Francisco, CA: National Center for Lesbian Rights and Sylvia Rivera Law Project; 2011. Available at: http://www.nclrights.org/legal-help-resources/resource/a-place-of-respect-a-guide-for-group-care-facilities-serving-transgender-and-gender-non-conforming-youth/. Accessed December 10, 2014.

17. Hembree WC, Cohen-Kettenis P, Delemarre-van de Waal HA, et al; Endocrine Society. Endocrine treatment of transsexual persons: an Endocrine Society clinical practice guideline. J Clin Endocrinol Metab. 2009;94(9):3132-3154.

18. Coleman E, Bockting W, Botzer M, et al. Standards of care for the health of transsexual, transgender, and gender-nonconforming people, version 7. Int J Transgend. 2012;13(4):165-232.

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20. Delemarre-van de Waal HA, Cohen-Kettenis PT. Clinical management of gender identity disorder in adolescents: a protocol on psychological and paediatric endocrinology aspects. Eur J Endocrinol. 2006;155(1):S131-S137.

21. Cohen-Kettenis PT, Delemarre-van de Waal HA, Gooren LJ. The treatment of adolescent transsexuals: changing insights. J Sex Med. 2008;5(8):1892-1897.

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23. University of California, San Francisco Center of Excellence for Transgender Health. Primary care protocol for transgender patient care. San Francisco, CA; 2011. Available at: http://transhealth.ucsf.edu/trans?page=protocol-00-00. Accessed December 10, 2014.

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Dr Sherer is assistant medical director, Child and Adolescent Gender Center, University of California, San Francisco (UCSF) Benioff Children’s Hospital. Mr Baum is senior director, Professional Development and Family Services, Gender Spectrum, Emeryville, California, and director, Education and Advocacy Services, Child and Adolescent Gender Center, UCSF Benioff Children’s Hospital. Dr Ehrensaft is associate professor, Department of Pediatrics, UCSF. Dr Rosenthal is professor of pediatrics, program director, Pediatric Endocrinology, and medical director, Child and Adolescent Gender Center, UCSF. He reports consulting for AbbVie and references unlabeled/unapproved uses of drugs or products in his presentations.