Sex, gender, and identity
Sex and gender are not the same thing.
Sex refers to a person's biologic status: male, female, or intersex.
Sexual identity refers to the sex to which a person is sexually attracted (if any).
Gender refers to a person's public, lived role as boy or girl, man or woman.
Gender identity is the subjective sense of knowing to which gender one belongs; ie, whether people regard themselves as male, female, transgender, or another identifying term (eg, genderqueer, nonbinary, agender).
Gender role is the objective, public expression of gender identity and includes everything that people say and do to indicate to themselves and to others the degree to which they are the gender with which they identify.
Gender role behaviors fall on a continuum of traditional masculinity or femininity, with a growing cultural recognition that some people do not fit—nor necessarily wish to fit—into the traditional male-female dichotomy. These people may refer to themselves as genderqueer, nonbinary, or one of many other terms that have become more commonly used over the past 10 years. Moreover, definitions and categorizations of gender role may differ across societies. The term cisgender is sometimes used to refer to people whose gender identity does correspond to their sex assigned at birth.
Western cultures are more tolerant of gender-nonconforming (tomboyish) behaviors in young girls (generally not considered a gender disorder) than effeminate or “sissy” behaviors in boys. Many boys role-play as girls or mothers, including trying on their sister’s or mother’s clothes. Usually, this behavior is part of normal development. Gender nonconformity (behavior that differs from cultural norms for a person's birth sex) in children is not considered a disorder and usually does not persist into adulthood or lead to gender dysphoria, although persistently nonconforming boys may be more likely to identify as homosexual or bisexual as adults.
Gender dysphoria
For most people, there is congruity between their biologic (birth) sex, gender identity, and gender role. However, those with gender dysphoria experience some degree of incongruity between their birth sex and their gender identity.
Gender incongruity, or gender nonconformity, itself is not considered a disorder. Some members of the transgender community consider even extreme forms of gender nonconformity to be simply a normal variant in human gender identity and expression. However, when the perceived mismatch between birth sex and felt gender identity causes someone significant distress or disability, a diagnosis of gender dysphoria may be appropriate—the focus being on the person's distress rather than on the presence of gender incongruity. The distress is typically a combination of anxiety, depression, and irritability. People with severe gender dysphoria, previously referred to as transsexual people, may experience severe, disturbing, and long-standing symptoms and usually have a strong wish to change their body medically and/or surgically to make their body more closely align with their gender identity.
Although precise figures are lacking, an estimated 0.005 to 0.014% of birth-sex males and 0.002 to 0.003% birth-sex females meet diagnostic criteria for gender dysphoria, as stated in the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-5). Many more people would identify themselves as transgender people but do not meet criteria for gender dysphoria.
Transsexualism is an outdated term that is no longer used by experts in the study of gender dysphoria.
Some scholars argue that the diagnosis of gender dysphoria is primarily a medical condition with attendant psychiatric symptoms, akin to disorders of sex development, and not primarily a mental disorder. Conversely, some people with gender dysphoria in the transgender community consider even extreme forms of gender incongruity to be rare normal variants in the spectrum of human gender identity and expression with attendant psychiatric symptoms.
Etiology of Gender Dysphoria
Biologic factors (eg, genetic complement, prenatal hormonal milieu) largely determine gender identity. Some brain imaging studies show functional and anatomic differences in gender-dysphoric people that are consistent with their felt gender (gender identity) rather than their birth sex. However, the formation of a secure, unconflicted gender identity and gender role is also influenced by social factors (eg, the character of the parents’ emotional bond, the relationship that each parent has with the child). Some studies show a higher concordance rate for gender dysphoria in monozygotic twins than in dizygotic twins, suggesting that there is a heritable component to gender incongruity.
Rarely, gender dysphoria is associated with genital ambiguity (intersex conditions [disorders of sex development]) or a genetic abnormality Overview of Sex Chromosome Anomalies Sex chromosome anomalies may involve aneuploidy, partial deletions or duplications of sex chromosomes, or mosaicism. (See also Overview of Chromosomal Anomalies.) Sex chromosome anomalies are... read more (eg, Turner syndrome Turner Syndrome In Turner syndrome, girls are born with one of their two X chromosomes partly or completely missing. Diagnosis is based on clinical findings and is confirmed by cytogenetic analysis. Treatment... read more 
, Klinefelter syndrome Klinefelter Syndrome (47,XXY) Klinefelter syndrome is the presence of two or more X chromosomes plus one Y, resulting in a phenotypic male. Diagnosis is based on clinical findings and is confirmed by cytogenetic analysis... read more 
).
When sex labeling and rearing are confusing (eg, in cases of ambiguous genitals or genetic syndromes altering genital appearance, such as androgen insensitivity syndromes), children may become uncertain about their gender identity or role, although the level of importance of environmental factors remains controversial. However, when sex labeling and rearing are unambiguous, even the presence of ambiguous genitals may not affect a child’s gender identity development.
Symptoms and Signs of Gender Dysphoria
Gender dysphoria symptoms in children
Childhood gender dysphoria often manifests by age 2 to 3 years. Children with gender dysphoria commonly do the following:
Prefer cross-dressing
Insist that they are of the other sex
Wish that they would wake up as the other sex
Prefer participating in the stereotypical games and activities of the other sex
Have negative feelings toward their genitals
For example, a young girl may insist she will grow a penis and become a boy; she may stand to urinate. A boy may fantasize about being female and avoid rough-and-tumble play and competitive games. He may sit to urinate and wish to be rid of his penis and testes. For boys, distress at the physical changes of puberty is often followed by a request during adolescence for feminizing somatic treatments. Most children with gender dysphoria are not evaluated until they are age 6 to 9, at a point when gender dysphoria is already chronic.
Only a minority of children diagnosed with gender dysphoria remain gender dysphoric as adults. There is considerable controversy over when or whether to support the social and/or medical transition of prepubertal children with gender dysphoria; there is no conclusive research to guide this decision (1, 2 Symptoms and signs references Sex and gender are not the same thing. Sex refers to a person's biologic status: male, female, or intersex. Sexual identity refers to the sex to which a person is sexually attracted (if any)... read more ).
Gender dysphoria symptoms in adults
Although most adults diagnosed with gender dysphoria have early gender dysphoria symptoms or experience a sense of being different in early childhood, some do not present until adulthood. Transwomen (transgendered male-to-female) may first be cross-dressers and only later in life come to accept their cross-gender identity.
Marriage and military service are common among gender-dysphoric persons who seek to run from their cross-gender (transgender) feelings. Once they accept their cross-gender feelings and publicly transition, many transgender people blend seamlessly into the fabric of society in their felt gender—with or without hormone therapy or gender confirmation surgery.
Some birth-sex males who identify as women are satisfied with mastering a more feminine appearance and obtaining female identification documents (eg, driver’s license, passport) to help them work and live in society as women. Others experience problems, which may include anxiety, depression, and suicidal behavior. These problems may be related to societal and family stressors associated with lack of acceptance of gender-nonconforming behaviors and marginalization. Health disparities in access to mental health and overall health care services are well documented in gender-dysphoric persons and may be associated with poverty and clinician discomfort in providing them with appropriate care.
Symptoms and signs references
1. Chen D, Edwards-Leeper L, Stancin T, et al: Advancing the practice of pediatric psychology with transgender youth: State of the science, ongoing controversies, and future directions. Clin Pract Pediatr Psychol 6(1):73-83, 2018. doi: 10.1037/cpp0000229
2. Travers A: The Trans Generation: How Trans Kids (and Their Parents) Are Creating a Gender Revolution. New York, New York University Press, 2018.
Diagnosis of Gender Dysphoria
Specific DSM-5 criteria
Diagnosis in all age groups
Gender dysphoria is expressed differently in different age groups. But for diagnosis of gender dysphoria in all age groups, DSM-5 criteria require the presence of both of the following:
Marked incongruity between birth sex and felt gender identity (cross-gender identification) that has been present for ≥ 6 months
Clinically significant distress or functional impairment resulting from this incongruity
Diagnosis in children
In addition to the characteristics required for all age groups, children must have ≥ 6 of the following:
A strong desire to be or insistence that they are the other gender (or some other gender)
A strong preference for dressing in clothing typical of the opposite gender and, in girls, resistance to wearing typically feminine clothing
A strong preference for cross-gender roles when playing
A strong preference for toys, games, and activities typical of the other gender
A strong preference for playmates of the other gender
A strong rejection of toys, games, and activities typical of the gender that matches their birth sex
A strong dislike of their anatomy
A strong desire for the primary and/or secondary sex characteristics that match their felt gender identity
Cross-gender identification must not be merely a desire for perceived cultural advantages of being the other sex. For example, a boy who says he wants to be a girl so that he will receive the same special treatment his younger sister receives is not likely to have gender dysphoria.
Diagnosis in adolescents and adults
In addition to the characteristics required for all age groups, adolescents and adults must have ≥ 1 of the following:
A strong desire to be rid of (or for young adolescents, prevent the development of) their primary and/or secondary sex characteristics
A strong desire for the primary and/or secondary sex characteristics that match their felt gender
A strong desire to be the other gender (or some other gender)
A strong desire to be treated like another gender
A strong belief that they have the typical feelings and reactions of another gender
Diagnosis of gender dysphoria in adults focuses on determining whether there is significant distress or obvious impairment in social, occupational, or other important areas of functioning. Gender nonconformity alone is insufficient for diagnosis.
Treatment of Gender Dysphoria
Psychotherapy
For certain motivated patients above a certain age (typically 16 years or older), gender-affirming hormone therapy and sometimes gender-confirmation surgeries, with consent and assent as required.
Gender-nonconforming behavior, such as cross-dressing, may not require treatment if it occurs without concurrent psychologic distress or functional impairment. Such behavior is not considered a disorder.
When treatment is required, it is aimed at relieving patients' distress and helping them adapt to rather than trying to dissuade them from their identity. Attempts at altering gender identity in adults have not proved effective and are now considered unethical.
In most Western cultures, most patients with gender dysphoria who request treatment are birth-sex males who claim a female gender identity and regard their genitals and masculine features with repugnance. However, as treatments have improved, female-to-male transgender people (transmen) are increasingly seen in medical and psychiatric practice, although the incidence in Western cultures is about one third of that for male-to-female transgenderism.
The primary objective in seeking medical help for most with gender dysphoria is not to obtain psychologic treatment but to obtain hormones and/or gender confirmation (sex reassignment or genital) surgery that will make their physical appearance approximate their felt gender identity. The combination of psychotherapy, gender-affirming hormone therapy, living at least a year in the felt gender, and gender confirmation surgeries may be curative when the disorder is appropriately diagnosed, and clinicians follow the internationally accepted standards of care for the treatment of gender identity disorders, available from the World Professional Association for Transgender Health (WPATH).
Although patients with gender dysphoria are no longer required to have psychotherapy before consideration for gender-affirming hormone therapy and surgical procedures, mental health care practitioners can do the following to help patients make informed decisions:
Assess and treat comorbid disorders (eg, depression Depressive Disorders Depressive disorders are characterized by sadness severe enough or persistent enough to interfere with function and often by decreased interest or pleasure in activities. Exact cause is unknown... read more , substance use disorders Overview of Substance Use Substance-related disorders involve substances that directly activate the brain's reward system. The activation of the reward system typically causes feelings of pleasure; the specific characteristics... read more )
Help patients deal with the negative effects of stigma (eg, disapproval, discrimination)
Help patients find a gender expression that is comfortable
If applicable, facilitate gender role changes, coming out, and transitioning
Gender dysphoria in birth sex males
For male-to-female patients (transwomen), feminizing hormones in moderate doses (eg, estradiol transdermal patches 0.1 to 0.15 mg/day) plus electrolysis, voice therapy, and other feminizing treatments may make the adjustment to a female gender role more viable and stable. Feminizing hormones have significant beneficial effects on the symptoms of gender dysphoria, often before there are any visible changes in secondary sexual characteristics (eg, breast growth, decreased facial and body hair growth, redistribution of fat to the hips). Feminizing hormones, even without psychologic support or surgery, are all some patients need to make them feel sufficiently comfortable as women.
Gender confirmation surgery is requested by many transwomen. Although there are several approaches, the most common surgery involves removal of the penis and testes and creation of an artificial vagina. A part of the glans penis is retained as a clitoris, which is usually sexually sensitive and retains the capacity for orgasm in most cases.
The decision to pursue gender confirmation surgery often raises important social problems for patients. Many of these patients are married and have children. A parent or spouse who changes sex and gender role will likely have substantial adjustment issues in intimate relationships and may lose loved ones in the process. In follow-up studies, genital surgery has helped many people with gender dysphoria live happier and more productive lives. As a result, this surgery is considered medically necessary in highly motivated, appropriately assessed and treated patients with gender dysphoria who have completed at least 1 year of living full-time in the opposite gender role.
Some patients also pursue nongenital, gender-affirming surgical procedures such as breast augmentation, facial feminization surgeries (eg, rhinoplasty, brow lift, hairline changes, jaw reconfiguration, tracheal cartilage shave [reduction of the laryngeal cartilage]), or vocal cord surgeries to change the quality of the voice.
Participation in gender support groups, available in most large cities or through the internet, is usually helpful.
Gender dysphoria in birth sex females
Female-to-male patients (transmen) often ask for mastectomy early because it is difficult to live in the male gender role with a large amount of breast tissue; breast binding often makes breathing difficult.
Then, hysterectomy and oophorectomy may be done after a course of androgenic hormones (eg, testosterone ester preparations 300 to 400 mg IM every 3 weeks or equivalent doses of androgen transdermal patches or gels). Testosterone preparations permanently deepen the voice, induce a more masculine muscle and fat distribution, induce clitoromegaly, and promote growth of facial and body hair.
Patients may opt for one of the following:
An artificial phallus (neophallus) to be fashioned from skin transplanted from the inner forearm, leg, or abdomen (phalloplasty)
A micropenis to be fashioned from fat tissue removed from the mons pubis and placed around the testosterone-hypertrophied clitoris (metoidioplasty)
With either procedure, scrotoplasty is usually also done; the labia majora are dissected to form hollow cavities to approximate a scrotum, and testes implants are inserted to fill the neoscrotum.
Surgery may help certain patients achieve greater adaptation and life satisfaction. Similar to transwomen, transmen should live in the male gender role for at least 1 year before referral for irreversible genital surgery.
Anatomic results of neophallus surgical procedures are often less satisfactory in terms of function and appearance than neovaginal procedures for transwomen, possibly resulting in relatively fewer requests for gender confirmation surgery from transmen. As techniques for phalloplasty continue to improve, requests for phalloplasty have increased.
Surgical complications are common, especially in procedures that involve extending the urethra into the neophallus. These complications may include urinary tract infections Introduction to Urinary Tract Infections (UTIs) Urinary tract infections (UTIs) can be divided into upper tract infections, which involve the kidneys ( pyelonephritis), and lower tract infections, which involve the bladder ( cystitis), urethra... read more , fistulae, urethral strictures Urethral Stricture Urethral stricture is scarring that obstructs the anterior urethral lumen. Urethral stricture can be Congenital Acquired Anything that damages the urethral epithelium or corpus spongiosum can... read more , and a deviated urinary stream.
Gender dysphoria in children
The treatment of prepubertal children diagnosed with gender dysphoria remains controversial. The majority of children who are gender-incongruent in childhood do not continue into adolescence or adulthood with a transgender identity. At this point, it is not possible to reliably predict which young children with gender dysphoria diagnoses will persist with such symptoms into adulthood. While there is no clinical consensus on the treatment of prepubertal gender dysphoric children, it is recognized that attempts to force the child to accept the birth-assigned gender role is usually traumatic and unsuccessful. Therefore, the predominant treatment modality is psychologic support and psychoeducation for children and their parents, using a gender-affirmative model as opposed to a gender-pathologizing model. This affirmative approach supports the child in the gender expressed, sometimes including social transition prior to puberty. Prior to puberty, there is no current indication for either medical or surgical intervention with gender-dysphoric children (1 Treatment references Sex and gender are not the same thing. Sex refers to a person's biologic status: male, female, or intersex. Sexual identity refers to the sex to which a person is sexually attracted (if any)... read more ).
In early adolescents, puberty-blocking agents are more commonly used today. Agents such as leuprolide (gonadotropin releasing hormone agonists) prevent the production of testosterone and estrogen, thereby "blocking" the progression of puberty. These agents may be employed at Tanner Stage II of development Sexual Maturation During adolescence (usually considered age 10 to the late teens), boys and girls reach adult height and weight and undergo puberty. For boys, see Sexual Differentiation, Adrenarche, and Puberty... read more , enabling additional time for evaluation of the gender dysphoric youth (2 Treatment references Sex and gender are not the same thing. Sex refers to a person's biologic status: male, female, or intersex. Sexual identity refers to the sex to which a person is sexually attracted (if any)... read more ) see Endocrine Society Guidelines, 2017. If the gender-dysphoric youth wishes to continue with full transition, puberty-blocking agents are discontinued and gender-affirming hormones (previously known as cross-sex hormones) are employed, enabling the onset of puberty in the experienced gender.
Treatment references
1. Chen D, Edwards-Leeper L, Stancin T, et al: Advancing the practice of pediatric psychology with transgender youth: State of the science, ongoing controversies, and future directions. Clin Pract Pediatr Psychol 6(1):73-83, 2018. doi: 10.1037/cpp0000229
2. 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 102(11):3869-3903, 2017. doi: 10.1210/jc.2017-01658
Key Points
Gender dysphoria is clinically significant distress or functional impairment associated with an incongruence between the experienced/expressed gender and the assigned sex at birth.
Only a minority of people who identify as transgender meet criteria for a diagnosis of gender dysphoria.
Diagnose gender dysphoria only when distress and/or functional impairment associated with gender incongruency are significant and persist ≥ 6 months.
When treatment is required, it is aimed at relieving patients' distress and helping them adapt to rather than trying to dissuade them from their identity.
The treatment of prepubertal children diagnosed with gender dysphoria remains controversial.
Drugs Mentioned In This Article
| Drug Name | Select Trade |
|---|---|
estradiol |
Alora, Climara, Delestrogen, Depgynogen, Depo-Estradiol, Depogen, Divigel, DOTTI, Elestrin, Esclim, Estrace, Estraderm, Estrasorb, Estring, EstroGel, Evamist, FemPatch, Femring, Femtrace, Gynodiol , Gynogen LA, Imvexxy, LYLLANA, Menostar, Minivelle, Vagifem, Valergen, Vivelle, Vivelle-Dot, Yuvafem |
testosterone |
Androderm, AndroGel, Andro-L.A., Aveed, AXIRON, Delatestryl, Depo-Testosterone, FORTESTA, JATENZO, KYZATREX, Natesto, STRIANT, Testim, Testoderm, Testopel, TLANDO, Virilon, Vogelxo, XYOSTED |
leuprolide |
CAMCEVI, Eligard, Fensolvi, Lupron, Lupron Depot, Lupron Depot-Ped, Viadur |
