Residency · Residency · Pediatrics

Gender Diversity in Pediatrics

Introduction

Gender diversity encompasses the wide range of ways individuals experience and express their gender. Transgender and gender diverse (TGD) youth are those whose gender identity differs from the sex assigned at birth. Approximately 1.4-2% of adolescents identify as transgender or gender diverse, and this population is increasingly presenting to pediatric primary care and specialty services. Pediatricians must be prepared to provide affirming, evidence-based care that supports the health and well-being of TGD youth. These children and adolescents face significant health disparities, including elevated rates of depression, anxiety, self-harm, and suicidality, largely driven by minority stress and lack of family acceptance.

Key Terminology

Sex assigned at birth refers to the designation based on external genitalia, chromosomes, and gonads (male, female, intersex/DSD). Gender identity is the internal, deeply held sense of one's gender (male, female, nonbinary, genderqueer, gender fluid, agender, and others). Gender expression is the external manifestation of gender through clothing, hair, behavior, and name/pronouns. Transgender describes individuals whose gender identity differs from their sex assigned at birth (for example, a transgender boy is someone assigned female at birth who identifies as male). Cisgender describes individuals whose gender identity aligns with their sex assigned at birth. Nonbinary refers to a gender identity outside the male/female binary. Gender dysphoria is a DSM-5 diagnosis describing clinically significant distress or functional impairment resulting from incongruence between gender identity and sex assigned at birth. Gender incongruence is the ICD-11 term that emphasizes the incongruence itself rather than distress, reflecting evolving understanding that being transgender is not inherently pathological. Social transition refers to adopting a name, pronouns, clothing, and presentation consistent with one's gender identity without medical intervention. Affirming care is a healthcare approach that respects and supports an individual's gender identity.

Epidemiology and Health Disparities

TGD youth experience significantly higher rates of depression (50-60%), anxiety (40-50%), self-harm (40-50%), and suicidality (suicide attempt rates of 20-40% compared to approximately 7% in cisgender peers). Family acceptance is the single most important protective factor, as family rejection is associated with an 8-fold increase in suicide attempt risk. Approximately 75% of TGD youth report verbal harassment and 35% report physical harassment. TGD youth are disproportionately represented among homeless youth, often due to family rejection. Many TGD youth avoid healthcare due to prior negative experiences, misgendering, or fear of discrimination. Protective factors include family acceptance, school-based support (GSA clubs), affirming healthcare, peer connection, and legal identity documents matching gender identity.

<image>Infographic showing health disparities faced by transgender and gender diverse youth compared to cisgender peers, including rates of depression, anxiety, suicidal ideation, substance use, and homelessness, alongside protective factors (family acceptance, affirming schools, peer support) that mitigate these risks</image>

Clinical Approach

Creating an Affirming Clinical Environment

The patient's chosen name and pronouns should be used consistently and documented in the medical record. Intake forms should include gender identity and pronoun questions separate from sex assigned at birth. Gender-neutral language should be used when addressing patients until preferences are known. Visible indicators of inclusivity (safe space stickers, inclusive posters, nondiscrimination policies) should be displayed. All staff including front desk, nursing, and providers should be trained on respectful interactions with TGD patients. Deadnaming (using a patient's previous name) and misgendering must be avoided.

Initial Assessment

The assessment should explore gender identity history, including when awareness began, how it has evolved, and the current understanding. Gender dysphoria severity should be evaluated across domains of distress (body, social, legal) and functional impairment. A mental health assessment should screen for depression, anxiety, self-harm, suicidality, trauma, and eating disorders while distinguishing between gender dysphoria-related distress and independent mental health conditions. Family assessment addresses the level of understanding and acceptance, family dynamics, and cultural and religious context. Social assessment covers school environment, peer relationships, bullying, and social transition status. Safety assessment evaluates housing stability, access to necessities, and intimate partner violence.

Developmental Considerations

In prepubertal children, gender diversity is common. Most prepubertal children exploring gender do not go on to identify as transgender in adolescence, though the research methodology in older desistance studies has been criticized. The approach should support exploration without commitment to specific outcomes, with mental health support and family guidance as the primary interventions. In early puberty, the emergence or intensification of gender dysphoria with the onset of puberty is a strong indicator of persistent gender identity. In adolescence, the capacity for more complex gender identity understanding develops, and readiness for medical interventions should be assessed individually with multidisciplinary input.

Medical Interventions

Puberty Suppression (GnRH Agonists)

GnRH agonists suppress the HPG axis, pausing development of secondary sexual characteristics. They are considered for adolescents who have entered puberty (Tanner stage 2 or beyond) with persistent, well-documented gender dysphoria assessed by a qualified mental health professional. Agents include leuprolide (IM or SC) and histrelin (subcutaneous implant). The effects are fully reversible upon discontinuation; the therapy prevents development of distressing secondary sex characteristics (breast development, voice deepening, menses, facial hair) and provides time for continued exploration of gender identity. Monitoring includes Tanner staging, height, weight, bone density (DEXA every 1-2 years), LH/FSH, and estradiol or testosterone. Important considerations include effects on bone mineral density (puberty is critical for bone accrual, and long-term effects of prolonged suppression are being studied), effects on fertility (a theoretical concern if followed by gender-affirming hormones without prior puberty), and the psychosocial benefits of preventing unwanted pubertal development.

Gender-Affirming Hormone Therapy (GAHT)

Gender-affirming hormones are generally initiated in mid-adolescence (age 14-16 in most guidelines, though individualized) and require mental health assessment and an informed consent/assent process. For transfeminine individuals, feminizing hormones include estradiol (oral, transdermal, or injectable), which promotes breast development, fat redistribution, skin softening, and reduced muscle mass, along with anti-androgens (spironolactone or GnRH agonist continuation) to suppress testosterone effects. Monitoring includes estradiol, testosterone, potassium (if on spironolactone), prolactin, liver function, and lipids. For transmasculine individuals, masculinizing hormones consist of testosterone (IM, SC, or transdermal), which promotes voice deepening, facial and body hair growth, fat redistribution, muscle development, cessation of menses, and clitoral growth. Monitoring includes testosterone, hematocrit and hemoglobin (polycythemia risk), lipids, and liver function. Patients and families must understand that some changes are partially reversible or irreversible (voice deepening and facial hair with testosterone; breast development with estradiol). Fertility counseling should discuss preservation options (egg or sperm cryopreservation) before initiating hormones.

Surgical Interventions

Surgical interventions are generally deferred until the age of majority (18 years) for most procedures. Chest masculinization (top surgery) may be considered in mature adolescents (16-17 in some centers) with persistent, stable identity and adequate time on testosterone. Genital surgery is typically deferred until adulthood. Multidisciplinary evaluation is required.

<image>Timeline diagram showing the staged approach to medical interventions for gender diverse youth: social transition (any age), mental health support (ongoing), puberty suppression (Tanner 2+), gender-affirming hormones (mid-adolescence with informed consent), and surgical options (typically age 18+), with monitoring parameters at each stage</image>

Mental Health Support

Mental health care is not a gatekeeper function but rather supportive care that should be offered to all TGD youth. It should address gender dysphoria, co-occurring conditions, and the impact of minority stress. Family therapy facilitates communication, education about gender diversity, and parental adjustment. Peer support through other TGD youth in support groups and community organizations is valuable. School advocacy should support name and pronoun use, bathroom access, dress code policies, and anti-bullying protections, and clinicians can write letters of support for school accommodation.

Legal and Social Considerations

Legal name and gender marker changes vary by jurisdiction, and pediatricians may need to provide supporting documentation. School protections including Title IX interpretations and state laws regarding bathroom access, sports participation, and nondiscrimination vary. Insurance coverage for gender-affirming care is variable, prior authorizations are often required, and clinicians should advocate for coverage when needed. Informed consent involves the minor, parents or guardians, and the clinical team in shared decision-making, with discussions documented thoroughly.

<image>Illustration of the multidisciplinary team involved in caring for transgender and gender diverse youth, showing the roles of the primary care pediatrician, mental health provider, endocrinologist, social worker, school liaison, and family support, with the patient at the center of the care model</image>

Clinical Pearls

Family acceptance is the most powerful protective factor for TGD youth, and investing time in family education and support is essential. Using the patient's chosen name and pronouns is a simple act associated with reduced depression and suicidality. Gender diversity is not a mental illness; gender dysphoria (the distress) is a diagnostic entity that warrants clinical support, while being transgender itself is a normal aspect of human diversity. Puberty suppression with GnRH agonists is reversible and provides valuable time for continued exploration, and it should not be confused with gender-affirming hormones. Mental health screening is essential for all TGD youth, not to gatekeep identity but because minority stress creates genuine risk for depression, anxiety, and suicidality.

References

1. Hembree WC, Cohen-Kettenis PT, Gooren L, et al. Endocrine Treatment of Gender-Dysphoric/Gender-Incongruent Persons: An Endocrine Society Clinical Practice Guideline. J Clin Endocrinol Metab. 2017;102(11):3869-3903.
2. Rafferty J, Committee on Psychosocial Aspects of Child and Family Health, et al. Ensuring Comprehensive Care and Support for Transgender and Gender-Diverse Children and Adolescents. Pediatrics. 2018;142(4):e20182162.
3. Tordoff DM, Wanta JW, Collin A, et al. Mental Health Outcomes in Transgender and Nonbinary Youths Receiving Gender-Affirming Care. JAMA Netw Open. 2022;5(2):e220978.
4. de Vries ALC, McGuire JK, Steensma TD, et al. Young Adult Psychological Outcome After Puberty Suppression and Gender Reassignment. Pediatrics. 2014;134(4):696-704.

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