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Gender Dysphoria and Gender Identity Disorders:

Definitions, Treatment, and Controversies

Weston Fisher

Penn State College of Medicine




Gender Identity Disorder (GID) is a DSM-IV-TR diagnosis for individuals who perceive themselves to be of the gender opposite to their biologic sex. These individuals will frequently identify as members of the opposite gender or express interest in transitioning to the opposite gender (A. Korte).


Children with gender identity disorder frequently play with members of the opposite gender, wear clothing of the opposite gender, and make statements rejecting their physical sex characteristics. While some children go on to identify as transgender as adults and work to fully assimilate the new gender role, most will not. Very frequently children with GID later identify as homosexual adults with no expressed interest in altering their gender identity (A. Korte).


Adolescents and adults with gender identity disorder state their desire to be a member of the opposite gender and may express interest in body altering medical intervention. In contrast to children with GID, most adolescents and adults go on to identify as transgender, some of whom seek body altering medical treatment (S. Giordano).


Key Terms


Sex: The identity of an individual as male, female, or intersex on the basis of biological characteristics. Sex differentiating traits include genitalia, chromosomes, and secondary sexual characteristics (e.g. enlarged breasts in females and increased muscle mass in males)


Gender: The identity of an individual as male, female, or genderqueer on the basis of social roles, behaviors, and attributes. A person’s gender frequently correlates with their biologic sex, however in some cases it does not.


Sexual Orientation: An individual’s internal sense of sexual attraction with respect to the gender or sex of the other. Common identities include heterosexual, homosexual, bisexual, and queer. A person’s sexual orientation frequently correlates with their sexual behavior, however in some cases it does not.


Transgender: An individual who identifies as a gender that does not correlate to their biologic sex at birth. The spectrum of transgender behaviors can range from no behavioral changes to cross-dressing to being fully transsexual and everything in-between, and can change over time.


Transexual: An individual who has taken steps to change their biologic sex from their biologic sex at birth. Steps may include hormone supplements and/or surgeries. Note: Many researchers refer to transgender individuals as “transsexual” or as having “transexualism” regardless of whether or not the individual has had body altering medical intervention.


Transvestite: An individual who wears the clothing and/or accessories societally established to be for members of the opposite gender. Common identities include drag queens, drag kings, and heterosexual transvestites pursuing sexual arousal.


Cisgender: An individual whose gender matches their biologic sex at birth.


Queer: A broad term used to describe individuals identifying as nonheterosexual, noncisgender, or intersex.


Genderqueer: A term used to describe individuals identifying as noncisgender. Examples include transgender individuals and people who consider their gender to be somewhere between male and female.


Intersex: An individual whose biologic sex is somewhere between male and female, not as a result of medical intervention.



DSM-IV-TR Classification


Gender Identity Disorder

A.  A strong persistent cross-gender identification (not merely a desire for any perceived cultural advantages of being the other sex).

In children, the disturbance is manifested by four (or more) of the following:


(1) repeatedly stated desire to be, or insistence that he or she is, the other sex

(2) in boys, preference for cross-dressing or simulating female attire; in girls, insistence on wearing only stereotypical masculine clothing

(3) strong and persistent preferences for cross-sex roles in make-believe play or persistent fantasies of being other sex

(4) intense desire to participate in the stereotypical games and pastimes of the other sex

(5) strong preference for playmates of the other sex


In adolescents and adults, the disturbance is manifested by symptoms such as a stated desire to be the other sex, frequent passing as the other sex, desire to live or be treated as the other sex, or the conviction that he or she has the typical feelings and reactions of the other sex.

B. Persistent discomfort with his or her sex or sense of inappropriateness in the gender role of that sex.

In children, the disturbance is manifested by any of the following: in boys, assertion that his penis or testes are disgusting or will disappear or assertion that it would be better not to have a penis, or aversion toward rough-and-tumble play and rejection of male stereotypical toys, games, and activities; in girls, rejection of urinating in a sitting position, assertion that she has or will grow a penis, or assertion that she does not want to grow breasts or menstruate, or marked aversion toward normative feminine clothing.

In adolescents and adults, the disturbance is manifested by symptoms such as preoccupation with getting rid of primary and secondary sex characteristics (e.g., request for hormones, surgery, or other procedures to physically alter sexual characteristics to simulate the other sex) or belief that he or she was born the wrong sex.

C.  The disturbance is not concurrent with a physical intersex condition.

D.  The disturbance causes clinically significant distress or impairment in social, occupational, or other important areas of functioning.


Code based on current age:

302.6 Gender Identity Disorder in Children

302.85 Gender Identity Disorder in Adolescents or Adults


Specify if (for sexually mature individuals):

Sexually Attracted to Males

Sexually Attracted to Females

Sexually Attracted to Both

Sexually Attracted to Neither


302.6 Gender Identity Disorder Not Otherwise Specified


This category is included for coding disorders in gender identity that are not classifiable as a specific Gender Identity Disorder. Examples include

  1. Intersex conditions (e.g., partial androgen insensitivity syndrome or congenital adrenal hyperplasia) and accompanying gender dysphoria
  2. Transient, stress-related cross-dressing behavior
  3. Persistent preoccupation with castration or penectomy without a desire to acquire the sex characteristics of the other sex



Biological Basis


While many theories have been postulated there have as of yet not been many advances in the understanding of gender identity disorder and its biological basis. Twin concordance studies and the observation of some family inheritance have suggested that there is, in fact, a biological basis to GID. The little research that has been conducted has focused on transgender or transsexual identifying adults (H. Berglund).


The hypothalamus has been looked at by some researchers. One study showed that male-to-female (MTF) transsexuals had hypothalamic activation to specific hormone exposures more similar to biologic females than to their male counterparts (H. Berglund). Another study showed that a subnuclei of the hypothalamus known as the interstitial nucleus of the anterior hypothalamus (INAH) had a similar volume and number of neurons in MTF transsexuals as with female controls, while FTM subjects were in the same range as male controls.


Another study looked for a genetic marker for transexualism (Eva-Katrin Bentz). The gene investigated was the CYP17 gene, part of the cytochrome P450 system in the liver. Frequencies of CYP 17-34 T>C single nucleotide polymorphism (SNP) were compared between male and female controls and FTM and MTF transsexuals. The study showed a statistically significant difference in SNPs between FTM transsexuals and their female counterparts indicating the mutation predisposes biologic females to transexualism. While the difference was statistically significant, the difference between the groups were not large enough to draw any major conclusions. No such trend was found in the MTF study population when comparing to male controls.



Treatment Model


The treatment model for individuals with gender identity disorder has been rapidly evolving in recent years. Many objections and contradictory opinions have been brought to the discussion, some of which will be touched upon below. The current treatment protocol is a consensus of the leading organizations focused on patients with GID.


Adults with GID may consider several options with regard to their situation. Many adults will chose to ignore their feelings and pursue a life in which their gender identity and expression match their biologic sex at birth. These individuals have been shown to have high rates of suicidal ideation, substance abuse, and depression. Some organizations and medical professionals seek to help these individuals accept this lifestyle and help reduce psychiatric comorbidities, though this is not the standard of care. Some adults will chose to live their lives as transgender individuals without seeking the assistance of medical and psychiatric professionals.


Adults interested in body altering medical interventions have several options. It is never considered too late to transition, so individuals of any age may seek out treatment. For biologic females wishing to transition, testosterone supplementation is often the first step in management. Both intramuscular (IM) and transdermal creams may be used, with the former acting more rapidly. Biologic males begin therapy with anti-androgens and estrogen supplementation. Sex reassignment surgery for both sets of patients may be considered after hormone therapy has been initiated and the patient has undergone at least three months of counseling (W. Bockting).


Adolescents in Tanner stages 2 or above may begin treatment similar to adults. Special consideration must be made to ensure that the individual is competent and legally able to consent to treatment, as many treatments are at least somewhat irreversible.


Children with GID should not be started on sex hormones or have surgical intervention (Delemarre-van de Waal). Only a minority of children with GID go on to identify as transgender later in life and therefore any irreversible interventions could be devastating. Children should be allowed to physically mature until early puberty. During this time parents may wish to consider allowing their child to identify as a member of the gender opposite their biologic sex. When tanner stage 2 is reached, puberty blockers should be started to delay the onset of irreversible and potentially psychologically traumatizing body changes. Gonadotropin Releasing Hormone (GnRH) agonists are the ideal treatment, however high dose progesterone may be considered in cases where GnRH cannot be afforded. The goal of puberty blockers is to delay the onset of puberty until such a time as the individual is old enough to decide which puberty they wish to progress with. In some countries the age of sixteen is considered sufficiently old to begin sex hormone supplementation and stop puberty blocking medications.





Many controversies exist surrounding Gender Identity Disorder. Most societies have specified roles for women and men. Some of these roles are presumed to be timeless. As such, an individual completely abandoning one role for the other is frequently difficult for people to accept. Additionally, since not all individuals who transition are able to easily pass as the gender they identify with, they may have to deal with people discomfort on a daily basis. For children the challenge is very complex. Children may share their interest in becoming the other gender with peers and their families without a realization of the discomfort others may have. Children frequently have a great deal of confusion due to a lack of understanding of how the body works and how their bodies will change. For example, a young girl who believes she is really a boy may fully expect that her penis has not yet appeared and continue to wait eagerly for it to do so.


Treatment for GID has been very controversial. The nature of GID is a discordance between the individuals biological sex and their perceived gender. Some experts have taken the approach of trying to alter the individuals perceived gender to match their biological sex, though most experts in the field have frowned on this approach (W. Bockting). Alternatively most adults seeking psychiatric and medical care will receive advice and coping skills to help them transition their body image and lifestyle to match their perceived gender, in some cases including body changing medical intervention.


With children the approach has been even more difficult. Since most children with GID go on to embrace cisgender identities, any irreversible steps to change a person’s sexual identity could be devastating. On the other hand, if an adolescent with GID, most of whom later identify as transgender, goes through the puberty of their biological sex, the effects can be very traumatizing. Puberty blockers are currently used to delay the onset of puberty until the individual can make the serious decision of choosing their gender identity. This in itself has been a controversy. Some experts view the decision to utiize puberty blockers as damaging. The drugs are known to stunt growth some. If GnRH cannot be afforded, high dose progesterone may be used, which has many harmful side effects, including fluid retention, “moon face,” central obesity, and insulin resistance (N. Spack). Some experts believe not allowing the adolescent to begin puberty in itself prevents the individual from maturing to a point where they can make an accurate decision (A. Korte). These experts believe the experiences one has during puberty allows individuals to explore their sexuality and gender in ways they could not as a pre-pubescent person. They conclude that since most children with GID later identify as homosexual, not allowing them to explore their sexuality with puberty would ultimately lead many persons who would otherwise identify as homosexual cisgender individuals in adulthood to instead become transgender. Overall however most experts now agree that the psychological damage and health risks of an adolescent going through the incorrect puberty before transitioning does more potential harm that using puberty blockers until a decision can be made.


The costs of treatment for GID patients can be overwhelming. In many western European nations nationalized health insurance or healthcare systems have ensured full treatment and coverage of expenses. In the United States however most treatment for GID is not covered. Since GID is listed in the DSM-IV it is considered a mental illness. As such most insurance carriers will cover the psychiatric and mental health professional care for patients with GID. Medical management however is usually considered a “cosmetic” treatment for a psychiatric disease. For this reason many have argued that GID should be held as a medical condition rather than psychiatric. Unfortunately since still little is known about the biological origins of the condition, it is not considered feasible at this time to label it as such.


In 1974 the American Psychiatric Association removed homosexuality from the DSM. At the time it was viewed that the diagnosis of homosexuality as a mental illness propagated stigma. The existence of GID as a mental illness has also been viewed to place stigma. Many currently argue that it should not be part of the DSM at all. The counterargument is that without a diagnosis in the DSM, patients who wish to seek the assistance of mental health professionals may not be able to do so as health insurance providers will be far less inclined to cover costs.


In recent years the binary extremes of male and female with regard to gender have been challenged. Many individuals are coming to identify as genderqueer, implying that they are not cisgender, but may not be fully transgender either. These individuals may often feel comfortable expressing part of their identity as female and part as male. This idea has implications for individuals who may not feel cisgender, decide to irreversibly alter their bodies to change their gender expression, and later decide they would rather not have done so.


Editor: Additional research and study is needed to address the many controversies.  The new term Gender Dysphoria was developed to address some of these concerns. 


Internet Resources




Works Cited


Bentz, Eva-Katrin, Lukas A. Hefler, Ulrike Kaufmann, Johannes C. Huber, Andrea Kolbus, and Clemens B. Tempfer. “A polymorphism of the CYP17 gene related to sex steroied metabolism is associated with female-to-male but not male-to-female transexualism.” Fertility and Sterility 90.1 (2008): 56-59. Print.

Berglund, H., P. Lindstrom, C. Dhejne-Helmy, and I. Savic. “Male-to-Female Transexuals Show Sex-Atypical Hypothalamus Activation When Smelling Odorous Steroids.” Cerebral Cortex 18 (2008): 1900-908. Print.

Bockting, Walter. “Are Gender Identity Disorders Mental Disorders? Recommendations for Revision of the World Professional Association for Transgender Health’s Standards of Care.” International Journal of Transgenderism 11.1 (2009): 53-62. Print.

Delemarre-van de Waal, Henriette A., and Peggy T. Cohen-Kettenis. “Clinical Management of Gender Identity Disorder in Adolescents: A Protocol on Psychological and Paediatric Endocrinology.” European Journal of Endocrinology 155 (2006): S131-137. Print.

Garcia-Falgueras, Alicia, and Dick F. Swaab. “A sex difference in the hypothalamic uncinate nucleus: relationship to gender identity.” Brain 131 (2008): 3132-146. Print.

Giordano, S. “Lives in a Chiaroscuro. Should We Suspend the Puberty of Children with Gender Identity Disorder?” J. Med. Ethics 34 (2008): 580-84. Print.

Houk, Christopher P., and Peter A. Lee. “The diagnosis and Care of Transexual Children and Adolescents: A Pediatric Endocrinologists’ Perspective.” Journal of Pediatric Endocrinology & Metabolism 19 (2006): 103-09. Print.

Korte, Alexander, David Goecker, Heiko Krude, Ulrike Lehmkuhl, Annette Gruters-Kieslich, and Klaus Michael Beier. “Gender Identity Disorders in Childhood and Adolescence.” Dtsch Arztebl Int 105.48 (2008): 834-41. Print.

Kruijver, F. P., J. N. Zhou, C. W. Pool, M. A. Hofman, L. J. Gooren, and D. F. Swaab. “Male-to-Female Transexuals Have Female Neuron Numbers in a Limbic Nucleus.” Jouranl of CLinical Endocrinology & Metabolism 85.5 (2000): 2034-041. Print.


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