Gender Incongruence and Dysphoria in Young People

Learning Objectives

At the conclusion of this activity, participants will be able to achieve the following:

Explain the terminology surrounding LGBTQAI.
State the population estimates of gender incongruence.
Discuss the diagnostic criteria for gender dysphoria.
Understand the challenges in persistence data regarding gender incongruence in young people.
Explain the medical management of gender dysphoria during early puberty and late puberty.
Explain the risks and benefits of medical treatment for gender dysphoria in young people.

Author: Priya Phulwani, MD, Connecticut Children’s Medical Center.

Article Content Last Updated: This content was updated as of September 21, 2022.

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Medical professionals had long assumed that the people—young and old—who sought their care were cisgender, referring to individuals who have a match between the gender they were assigned at birth and their gender identity. But advancements in the study of gender now make it imperative that we expand our understanding and definition of gender identity to include variants that may lead to gender dysphoria—clinically significant distress or impairment in social, occupational, or other important areas of functioning caused by a mismatch between the sex assigned to a person at birth and that person’s personal sense of gender identity.

Terminology

Gender identity is one’s innermost concept of self as male, female, or a blend of both or neither. It is how individuals perceive themselves and what they call themselves. Do I feel myself to be male? Female? Both? Neither? Those who fall outside the cisgender category often identify as members of the LGBTQAI community. All healthcare professionals need to know each category of this abbreviation.

Gender incongruence occurs when the gender one was born as (AFAB, assigned female at birth; or AMAB, assigned Male at birth) is different from the gender one knows oneself to be (affirmed gender or true gender identity).

Gender dysphoria is sadness, discomfort, distress or impairment in social, occupational or other important areas of functioning, as a result of gender incongruence.

Gender Identity is one’s innermost concept of self as male, female or a blend of both or neither. It is how individuals perceive themselves and what they call themselves. For example: Do I feel myself to be male? Female? Both? Neither?

LGBTQIA

Lesbian, gay and bisexual are terms most healthcare providers are familiar with. These designations refer to sexual orientation or whom one is attracted to, and should not be mistaken for gender identity terms.

LGBTQIA: Transgender

Transgender is an umbrella term that incorporates differences in gender identity wherein one’s gender assigned at birth doesn’t match the affirmed identity. Many (but not all) people use it to mean the affirmed gender is the opposite of the birth gender.

LGBTQIA: Queer

Gender queer (or nonbinary or gender fluid) are terms people may use to describe themselves when their gender identity does not align with a binary understanding of gender. Usually, when someone uses these expressions, they mean, “I can’t check off those intake forms where you have only the M and the F options. I don’t feel like I belong in either of these boxes.” A person may identify themselves in more specific subcategories:

Both male and female (bigender or two-spirit)
A separate non-binary or third category
Moving between genders (gender fluid)

Some countries allow citizens to check off a third/other gender box.

LGBTQIA: Intersex

Intersex is a term individuals may use to describe themselves when they have biological variations in sex development. They may have reproductive organs (external and/or internal), hormones or chromosomes that are not in the “typical” male or female category. For example, chromosomes other than XX, XY (like Turner syndrome XO, Klinefelter syndrome XXY); conditions that can cause excess virilization of XX (such as congenital adrenal hyperplasia); or under virilization of XY (such as androgen resistance syndrome).

LGBTQIA: Agender or Asexual

A may refer to Agender as a term for gender identity, meaning I do not identify as any gender, or A may refer to Asexual as a term for sexual orientation, meaning: I am not attracted to any gender.

Gender Expression

Gender expression refers to an individual’s presentation—including physical appearance, clothing and accessories, and behavior that communicate aspects of gender or gender role. There is a historic and cultural context to gender expression. If a woman wears pants today, for example, no one would think it unusual or androgynous or unfeminine because it’s culturally common for people of all genders to wear pants. But 100 years ago, if the individual otherwise appeared as a woman, doing so might have been considered androgynous or male.

One’s gender expression may not conform to one’s internal gender identity due to fear of social sigma. For example, a person may worry about damaging a family/personal relationship or losing a job if their gender expression does not match a binary identity.

Gender expression does not fall under the LGBTQAI identity umbrella, but it is important to understand—particularly, note that for many reasons (including safety and loss of a job or relationship) it may not match gender identity.

Prevalence of Gender Incongruence

“These increasing numbers are thought to be because there is growing awareness of what it means to have a gender identity that does not match birth gender, and that medical options may be available for younger people.”

In the United States, Norman Spack, MD, realized that medications that cause puberty can be useful for younger adolescents. In 2007, he co-founded the country’s first clinic devoted to treating transgender and gender diverse (TGD) children—the Gender Multispecialty Service (GeMS) clinic at Boston Children’s Hospital. A few years later, Spack published data on the rise in gender dysphoria cases seen before and after the clinic opened. From 1998 to 2006, before the clinic started, he had a total of 40 patients, getting about 4.5 referrals per year. Once he organized the GeMS program and shared the news that the medical community can help transgender children, in just two years’ time (by 2009)—the clinic saw 57 patients and there were 19 referrals per year.¹ Since that time, the clinic has cared for more than 1,000 families.²

At Connecticut Children’s Medical Center, we get two to five new referrals per week for patients under 18 years old for gender dysphoria. In general, these increasing numbers are thought to be because there is growing awareness of what it means to have a gender identity that does not match birth gender, and that medical options may be available for younger people. There is also more media awareness and information about TGD celebrities.

Summary of Reported Proportions of Transgender and Gender Diverse (TGD) People in the General Population

Health systems-based studies: 0.02–0.1%
Survey-based studies of adults: 0.3–0.5% (transgender), 0.3–4.5% (all TGD)
Survey-based studies of children and adolescents: 1.2–2.7% (transgender), 2.5–8.4% (all TGD)

Source: Coleman, E., Radix, A.E., Bouman, W. P., Brown, G. R., deVries, A. L. C., Deutsch, M. B., Ettner, R., … Arcelus, J. (2022). Standards of care for the health of transgender and gender diverse people (Version 8). International Journal of Transgender Health, 23(s1), s1–s258. https://doi.org/10.1080/26895269.2022.2100644

Diagnosis of Gender Dysphoria

The diagnostic criteria for gender dysphoria currently lie in the Diagnostic and Statistical Manual of Mental Disorders (DSM), published by the American Psychiatric Association (APA). There is much controversy regarding categorizing gender dysphoria as a mental disorder—in the same way homosexuality had once been categorized in the DSM not too long ago. In the most recent edition of the DSM (DSM-5-TR, published in March 2022), the APA has replaced the term gender identity disorder with gender dysphoria. This change attempts to remove the stigma associated with the word disorder.

The Manual of International Statistical Classification of Diseases and Related Health Problems (ICD-11) is another diagnostic tool also addressing the changing understanding of gender incongruence. The board is considering classifying gender incongruence in a new category, “Conditions Related to Sexual Health.” In the case of gender dysphoria, ICD-11 will replace the requirement of “distress” with “dislike” or “discomfort.” Certainly, changes are underway in how to classify gender dysphoria and gender incongruence.

In the meantime, it is vital that all healthcare professionals know that neither the American Psychiatric Association nor the American Psychological Association consider any form of gender diversity to be a mental disorder.

DSM-5-TR Diagnostic Criteria

The DSM diagnostic criteria for gender dysphoria require feelings of gender incongruence for a minimum of six months. The current DSM also requires that this incongruence leads to distress. The person must express clearly that they want to do away with the features that they have, they want features of another gender, and they would like society to accept them as such.

The DSM criteria for gender dysphoria in children is similar and requires five of the following criteria:³

Preference for opposite gender clothing
Strong preference for cross-gender roles in fantasy play
Strong preference for toys, games, activities of other gender
Strong preference for playmates of other gender
Strong rejection of toys, games, activities associated with assigned sex
Strong dislike of one’s sexual anatomy
Strong desire for primary/secondary sex characteristics of another gender

The two criteria that have been linked to greater statistical data for persistence are: 1) strong dislike of one’s sexual anatomy and 2) strong desire for primary/secondary sex characteristics of another gender.

Patients with gender dysphoria may or may not desire surgery or medication for gender transition. Keep in mind that not everyone who has gender incongruence necessarily has significant dysphoria or distress over it. Medical transitioning options are only for those who desire them.

Taking the Social History

In routine adolescent medical histories, the topic of gender incongruence and dysphoria should be addressed as part of the social history taking. Do you vape? Do you smoke cigarettes? Do you smoke marijuana? Are you sexually active? Do you use protection? And just as routinely: Are you happy with your gender? You might get an immediate “yes,” or you might get a response such as, “I’ve been thinking about that and exploring it.” Or, “No. I’m transgender,” etc. You won’t know this unless you ask the question, and you do so in confidence.

Be very careful about sharing this information. A healthcare provider should not accidentally reveal a child’s gender identity. Ask the adolescent, “Does your parent [legal guardian] know about this? Do you feel safe sharing that with them?” The number of transgender adolescents who get kicked out of their homes is higher than those in the general adolescent population.⁴ So, make sure you understand the family situation before you go any further with the discussion. Then, if they are struggling, you might suggest starting a conversation with a therapist to help the family explore the topic further.

Persist/Desist Outcomes

For pre-pubertal children with gender dysphoria, only about one-third will continue to experience persisting gender dysphoria into adolescence.⁵ However, once puberty begins, if gender dysphoria is still present, the vast majority will persist with their affirmed gender identity.

Statistics show that about one-third of those who desist (decide to now identify with the gender assigned at birth) will later identify as heterosexual; while two-thirds of those patients who desist are likely to identify as lesbian, gay or bisexual.⁶

Detransition Rates

Detransition is when a person who has already transitioned, returns to live as the gender assigned at birth. Many young adults and their families ask how many older teenagers and adults who have gone through medical, and perhaps even surgical, transition, later want to go back to their gender assigned at birth. The answer to this question depends on how a given study defines transition.

Detransition rates will be higher if the study focuses only on social transition or on reversible puberty blockers that may have been given with the intention of having more time to figure out long-term goals. When you look at these categories, the rates of so-called detransition, or going back to the gender assigned at birth, are going to be higher than studies that look at those who intended to permanently transition.

When defining detransition, we need to look at the original goal of the patient. For example, a person may say, “My plan is to be on hormones only for a short time to get the changes that I want” (for example, a few years of testosterone to get a deeper voice). This case should not be included in detransition rates; it was never the patient’s goal to be on hormones permanently.

The more telling detransition studies ask patients if they regret having made those changes and also look at how many went back on hormones. One study from the United Kingdom in 2019 found that of 3,398 clinic attendees only 16 (approximately 0.47 percent) experienced transition-related regret. Of these, even fewer went on to actually detransition.⁷ Another study in the United States in 2016 found that of the 28,000 people surveyed, 8 percent de-transitioned temporarily or permanently at some point. The majority of respondents who de-transitioned did so only temporarily, and 62 percent were living full time in a gender other than the one they were assigned at birth.⁸ A third study from the Netherlands followed 6,793 people (4,432 birth-assigned male and 2,361 birth-assigned female) who visited a gender identity clinic from 1972 through 2015. Only 0.6 percent of transwomen and 0.3 percent of transmen who underwent gonadectomy (surgical removal of an ovary or testis) were identified as experiencing regret. This same study found that only 1.9 percent of transgender young people on puberty blockers did not want to continue with the medical transition.⁹

Medical Management

The medical management options for gender dysphoria vary depending on the pubertal stage of the transgender child.

Prepuberty

The “treatment” for a prepubertal child is social transition, if safe and desired by the child, and mental health support if needed. There is nothing for an endocrinologist or other medical provider to prescribe at this stage. The parents and/or child may need resources on support groups, may be struggling with anxiety or may need assistance finding the resources that are available through their school or community. The healthcare provider can assist with leading/referring the family to appropriate services.

Medical Management During Early Puberty

GnRH agonists (such as leuprolide or triptorelin injections or histrelin implant) are puberty-pausing medicines that can be used for treating gender dysphoria in children who have begun puberty (minimum Tanner Stage 2). This is not an option before the start of puberty.

Colloquially known as “puberty blockers,” GnRH agonists are routinely used by pediatric endocrinologists to treat precocious puberty, giving the young child more time to age before the body moves further into puberty. Similarly, beginning at the first stage of puberty, GnRH agonists can be used to pause puberty in a child with gender incongruence. This first stage ranges between ages 7-13 for those with ovaries (first sign is breast buds) and ages 9-14 for those with testicles (first sign is testicular enlargement 4 ml volume).

The effects of puberty-pausing medicine are reversible. Once discontinued, unless estrogen or testosterone is started, the endogenous hormone levels typically recover by three months. When used in older adolescents, the sperm levels/ovulation cycles recover in approximately six to 12 months.

Puberty-pausing medication does have medical risks. Because GnRH agonists can slow down the bone density gain that otherwise occurs during puberty and can also slow down height velocity, it is not recommended that they be given over an extended period of time unless adding testosterone or estrogen. The use of GnRH agonists in early puberty can limit certain surgical options if the child later chooses surgical transition. For example, vaginoplasty is usually done using fully formed male genitals. For those who had suppressed puberty, and therefore have a very small scrotum, other sources of tissue must be used.

There are also ethical concerns regarding the effect on fertility when using GnRH agonists at a young age. Pausing puberty pauses maturation of the child’s oocytes or sperm. Can a child understand the effect that this can have on future fertility options? And if they do decide that they wish to have biological fertility, they would then go off the blocker, go through some steps of the undesired puberty, and then go back through the hormone process. This is a major issue to consider. There are a few cases when gametes were retrieved in patients on GnRH agonists without stopping them, but it’s rare and maybe more invasive and expensive.

Most importantly, these risks must be carefully weighed against the mental health benefits of halting an undesired puberty that causes anxiety, depression and sometimes suicidal ideation/attempts. (See “Risks of Treatment” and “Benefits of Treatment” below.)

Medical Management During Late Puberty

The 2017 Endocrine Society Guidelines recommend beginning estrogen or testosterone cross hormones between ages 14 to 16, on a case-by-case basis.¹⁰For example, consider this case: A young teen, assigned female at birth, has been living as male since age five, sees a therapist, has family support, and has been on puberty blockers since age 9 when breast buds began. To make this patient wait until age 16 for cross-hormone treatment has medical risks (such as osteoporosis), social difficulties (no height spurt like the other peers until testosterone is started), and, often, negative mental health outcomes.

Each case needs individualized careful review and consideration.

Risks of Treatment

Starting hormone treatments during puberty has its risks:

Risks of testosterone treatment include hypertension, weight gain, lipid changes, cystic acne, mood swings (usually mild) and male pattern hair loss (especially if it runs in the family). There may be a rise in hemoglobin levels; if this occurs other causes (such as nicotine use, sleep apnea) must be ruled out.
Estrogen treatment may increase the risk of blood clots and stroke. Transdermal estrogen formulations have lower thromboembolic risk than oral formulations.¹¹

It’s also important that the patient and family have a good understanding of irreversible changes of cross-hormone treatment if the patient decides to stop treatment:

Testosterone will cause the voice to permanently deepen and clitoral growth will remain.
Estrogen will promote breast growth that cannot be reversed without surgery and permanent testicular shrinkage.
Both may have long term impacts on fertility.

Benefits of Treatment

Some might ask, “Why are we even talking about treating these young patients?” We treat them because of the negative outcomes of not treating them.

Surgical Benefits

If adolescents with gender dysphoria are not treated with puberty blockers, their desired physical outcomes through surgery may require more invasive procedures. For example, consider someone who is assigned female at birth and wishes to transition to male. If no treatment is offered, they will need a more invasive breast surgery than someone who was given a GnRH agonist earlier and never had full breast development.

As another example, consider someone who is assigned male at birth and wishes to transition to female. If treatment is not offered early, they may develop a full tracheal cartilage (aka Adam’s apple) and would need surgery to change it, versus using a GnRH agonist earlier to prevent the development of that cartilage and other masculine facial features in the first place.

Mental Health Benefits

“If medical transition is desired in adolescence, the risks of not treating are worsening distress, depression, anxiety and even self-harm/suicide.”

If medical transition is desired in adolescence, the risks of not treating are worsening distress, depression, anxiety and even self-harm/suicide. Bullying and peer victimization are common in the lesbian, gay, bisexual and transgender teen community.¹² Looking specifically at U.S. transgender adolescents, a nationwide online sample found that this group had elevated rates of being victims of psychological, physical and sexual abuse compared with cisgender adolescents. Seventy-three percent of transgender adolescents reported psychological abuse, 39 percent reported physical abuse and 19 percent reported sexual abuse.¹³

Sadly, transgender youth also have a higher incidence of attempted suicide. Analyzing data from the Profiles of Student Life: Attitudes and Behaviors survey (N = 120,617 adolescents), researchers found that slightly more than half of transgender male teens (51 percent) said they had tried to kill themselves, while 42 percent of teens who identified as neither male nor female and nearly 30 percent of transgender female teens said the same thing. Those numbers are starkly higher than those for cisgender female and male teens, who reported rates of 18 percent and 10 percent, respectively.¹⁴

Mental health clinicians have an important role in supporting young people through the gender questioning/transitioning process. This role includes the following:

Treating concurrent or comorbid psychological concerns
Evaluating family and social functioning. (Family support is known to be a protective factor against depression.¹⁵)
Educating about gender language (e.g. identity, expression, transgender)
Providing an overview of treatment options, timing and guidelines
Assisting in any social transition through collaboration with systems of care (e.g., schools)
Providing consistent treatment to inform medical decision-making and any letters of support for transition

Topics Discussed Before Treatment Begins

Gender clinics should offer medical treatment for gender dysphoria only after a thorough discussion of the following:

Mental health support, if needed.
Options for sperm banking or oocyte preservation before treatment.
Benefits and risks of treatment.
Reversible and irreversible changes.

Organizations Supporting Treatment of Gender Dysphoria in Young People

If you are not comfortable offering medical treatment, remember that “conversion” therapy, which tries to convince the patient they are not transgender, does not work and is detrimental. (The same was found when the method was used in attempts to change sexual orientation.) There are medical guidelines and multiple medical associations that support a patient’s desired treatment, so if you are uncomfortable, refer that patient to someone who would be willing to direct them to the appropriate resources. The following associations are helpful resources.

American Medical Association (AMA): “AMA will continue to work to ensure transgender and gender-diverse minors have the opportunity to explore their gender identity under the safe and supportive care of a physician.” At ama-assn.org/press-center/press-releases/ama-reinforces-opposition-restrictions-transgender-medical-care
American Psychological Association (APA): Guidelines for Psychological Practice with Transgender and Gender Nonconforming People at apa.org/practice/guidelines/transgender.pdf
World Professional Association for Transgender Health (WPATH): Standards of Care for the Health of Transgender and Gender Diverse People, Version 8 in International Journal of Transgender Health 2022, 23(s1), s1-s258.
The Endocrine Society: Endocrine Treatment of Gender-Dysphoric/Gender-Incongruent Persons: An Endocrine Society Clinical Practice Guideline, 2017 at https://pubmed.ncbi.nlm.nih.gov/28945902.

Gender Respectful Electronic Medical Records

“To affirm and acknowledge young people’s gender identity, your registration staff should ask about preferred name and pronoun and edit it so it appears in the top banner of the chart.”

Most young people with gender incongruence use a name and pronouns that differ from what is presented on their medical forms. To affirm and acknowledge young people’s gender identity, your registration staff should ask about preferred name and pronouns and record them so they appear in the top banner of the chart. (Note: Inform the adolescent that this would be visible to the legal guardian, in case they aren’t aware yet or supportive.)

A patient chart advisory can also be helpful; this will pop up to remind you of name and pronoun and may help you keep in mind that certain lab results may be impacted if the patient is on hormones (i.e, when on testosterone, use the normal range for males for hemoglobin, hematocrit and creatinine). Progress notes, visit summaries, letters, etc., should also include the name and pronoun used.

Acceptance of gender incongruence can involve political, religious, and moral beliefs and attitudes. Some healthcare providers may not understand what these young patients are going through and will not be comfortable treating them or adding preferred names and pronouns to patient charts. Whatever your view on this medical issue, show the patient kindness and respect. If you are not comfortable offering medical treatment, refer them to someone who is willing to help. But always be kind.