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Diagnosis of Gender Identity Disorder


Gender identity disorder, also commonly known as gender dysphoria, is a condition typified by observed inconsistencies between an individual’s expressed or experienced gender and the one they were allocated at birth. Individuals who endure this challenge are unable to connect with their initially assigned gender expression when subjected to the inflexible societal binary female or male roles, a situation that often breeds cultural stigma. Most people affected by this problem experience relationship challenges with friends, peers, and family members, resulting in societal rejection, interpersonal conflicts, substance use disorders, symptoms of anxiety and depression, an increased risk of suicidality and self-harm, poor self-esteem, and a negative sense of well-being. People with this condition require continuous psychiatric support. Surgical therapy and hormonal therapy are equally viable options, although these two strategies vary widely depending on individual patient needs.

The word “gender” is originally derived from the Old French term “gendre,” which directly translates to “genus, sort, or kind.” In practice, children are usually assigned to their agenda immediately after birth based on their chromosomes and anatomy. For a majority of children, the assigned gender directly aligns with their gender identity, a natural tendency to identify oneself as female or male. A small proportion of children may, however, endure genetic inconsistencies, thereby becoming transgender in their adulthood. According to the Diagnostic and Statistical Manual of Mental Disorders (DSM-5), gender dysphoria is an observed discrepancy between an individual’s expressed or experienced gender and the gender assigned at birth. DSM-5 identifies it as a gender identity disorder (Frew et al., 2021).


The exact cause of gender dysphoria is unclear. Most scientists attribute the condition to complex biopsychosocial interactions (Kozlowska et al., 2021). People born with androgen insensitivity syndrome or congenital adrenal hyperplasia are often socialized and brought up as girls despite having a natural sense of belonging to the male gender. These changes tend to manifest in the early teenage years. Scientists have also established correlations between gender dysphoria and in-utero exposure to phthalates found in polychlorinated biphenyls and plastics (Percy et al., 2016). The scholars claim that these chemicals often disrupt the processes of sex determination (regular endocrinology) prior to birth. Phthalates increase the levels of testosterone in the body, which further increases the risk of gender dysphoria and autism spectrum disorder.

Some researchers have correlated autism spectrum disorder and other psychiatric illnesses such as schizophrenia with gender dysphoria (Stusiński & Lew-Starowicz, 2018). Further evidence points to a relationship between gender dysphoria and childhood physical or sexual abuse, maltreatment, and neglect (Giovanardi et al., 2018). People that report a higher rate of body dissatisfaction and gender dysphoria often endure a worse prognosis with respect to mental health. People with gender dysphoria also exhibit higher rates of substance use, suicidal ideation, and depression (Gonzalez et al., 2017). Some studies have also established neuroanatomical correlations, including differentiation and neuronal development in the hypothalamus (Boucher & Chinnah, 2020). Some scholars have also established differences in amygdala connectivity and hemispheric ratios based on gender through functional neuroimaging techniques. Gender dysphoria is also correlated with maternal toxoplasma infection, although the available evidence is not as strong (Wadhawan et al., 2017). Some researchers also identify genetic interferences in gender dysphoria. Familiarity and heritability of gender dysphoria are identified in some studies (Boucher & Chinnah, 2020).


According to Zucker (2017), the prevalence rates for self-reported transgender identity in adults, adolescents, and children range between 0.5% – 1.3%. The scholar reports that the condition was rather uncommon in the past, although studies done in the recent past indicate that the prevalence is increasing. A 2016 study by Meerwijk and Sevelius (2017) established that 390 adults in every 100,000 identified as transgender. The scholars nevertheless noted that future studies would probably record a higher rate of prevalence. A 2018 study by Polderman et al. (2018) established that 0.6% of the entire U.S. population identifies as transgender. This amounts to a total of 1.4 million people, which is a big number by any standards. The researchers, nevertheless, stated that the number could be underrepresented owing to the social stigma associated with identifying as transgender. In addition, there is a high likelihood that many individuals identified as such abstain from school, further increasing the probability that there are more people identifying as transgender.

People with gender dysphoria are also commonly diagnosed with substance use disorders in both genders. A 2018 study by García Vega et al. (2018) established that approximately 23.8% of individuals that participated in the study had attempted suicide at least once in their life, while 48.3% had suicidal ideation. The scholars were nevertheless unable to establish clinically significant variations between female-to-male or male-to-female groups. There are numerous comorbid disorders associated with gender dysphoria. They include personality disorders, depression, and anxiety. Of these, personality disorders seem to be the most comorbid conditions representing the biggest majority of cases.


Genetic contribution and biological understanding of gender dysphoria might permit all areas, such as medical and social, to accept the condition. Some scholars have hypothesized about the interrelationship between biological factors being contributory to the condition. Nevertheless, the hypotheses have not been conclusive and are therefore not well understood. Some scholars in the 1970s claimed that the mechanism through which gender dysphoria is developed largely involves an environmental pathology that is learned. Therefore they proposed the adoption of aversion and conversion behavioral techniques as a way of criticizing feminine features in young boys. Some studies show that genes are contributory variables to rendering gender identity a biologically inherited polygenetic and multifactorial characteristic, although there is no evidence that states it determines the complex traits.

Contrary to the traditional perspectives regarding gender, it is not dichotomously branched, and it is, in essence, a spectrum of the “transgender” and “cis-gender” umbrella (Polderman et al., 2018). Numerous twin-based heritability and family studies have given proof indicating that gender dysphoria is polygenetically inherited. To date, molecular genetic research studies do not provide any conclusive proof for genetic identifiers for gender dysphoria. DSM-5 acknowledges that gender dysphoria can exist in partial androgen insensitivity syndrome or congenital adrenal hyperplasia.

Besides genetics, some scholars have also associated the development of gender dysphoria with psychosocial factors. The processes of developing a child’s gender traits could be influenced by many factors outside biological variables, including parental qualities and the resultant relationship from the interaction between a parent’s style of parenting and a child’s temperament. Young boys are expected to demonstrate masculine tendencies without showing signs of feminism. Equally, young girls are supposed to be sensitive, warm, and nurturing. These psychosocial behavioral tendencies are also defined and in line with cultural norms. By the age of three years, children are already aware of gender differences, even though some children may exhibit deficiencies in acknowledging the same owing to discrepancies. Lemma (2018) claims that Sigmund Freud argued that gender dysphoria in children arises due to conflicts in the oedipal triangle.

Evaluation: Diagnosis Based on DSM-5

Physical Examination

Ordinarily, children should be subjected to intense genital examination immediately after birth to identify sex and malformations, if any. Children born with androgen insensitivity syndrome or congenital adrenal hyperplasia can present with abstruse genital formations, with the latter presenting with early signs of hyperkalemia and hyponatremia. Those who develop the condition late may present with signs of menstrual irregularities and virilization. The traditional salt-losing category is often more affected and thus requires immediate medical attention. In the case of androgen insensitivity syndrome, boys are often raised as girls owing to their insensitivity to androgens (Fulare et al., 2020). Such individuals may benefit from surgical and hormonal treatments in adolescence or early adulthood. Thorough genetic testing and assessments should therefore be carried out on people identified with unclear genitals.

Gender Dysphoria in Children

Gender dysphoria in children is defined as identified inconsistencies between one’s assigned gender and expressed or experienced gender for a duration of at least six months. It is diagnosed if children exhibit one of the following features.

  • Having a strong dislike for one’s sexual anatomy;
  • Strong insistence that one is of the other gender or a strong insistence or desiring to be like the other gender;
  • A strong preference for games, toys, or activities that are generally associated with the other gender;
  • Having strong preferences for cross gender roles in fantasy, play, or make-believe play;
  • Strongly desiring playmates of the other gender;
  • A strong desire and preference for wearing masculine clothing in girls coupled with resistance to the wearing of clothing typically associated with women and similarly a strong desire or preference to put on female clothing coupled with a strong resistance to wearing clothing associated with masculinity in boys.

Besides the above listed features, children with gender dysphoria also exhibit clinically significant impairment or distress in important areas of life including school and social circles that effectively affect their functionality.

Gender Dysphoria in Adults and Adolescence

Adolescents and adults also share some of the characteristics present in children including inconsistencies between one’s assigned gender and expressed or experienced gender for a duration of at least six months. It is diagnosed if children exhibit one of the following features.

  • Strong convictions about having the common feelings (sexual) of the other gender;
  • Strong desire to associate or be treated as the other gender;
  • Strong desire for having the main or secondary sex features of the other gender; and
  • Strong desire to rid of one’s main sex features owing to identified inconsistencies with one’s expressed and assigned gender.

Besides these factors, gender dysphoria in adolescents is linked with clinically significant impairment or distress in occupational and social areas of life.

Other Specified and Unspecified Gender Dysphoria

These two classifications (specified and unspecified gender dysphoria) relate to symptoms commonly found in individuals diagnosed with gender dysphoria that affect important areas of one life, including school, occupation, and social life, but fail to satisfy the established criteria of gender dysphoria. The use of either category is determined by the clinician’s decision to communicate or to avoid communicating the specific reasons behind a patient’s presentation and classification of gender dysphoria and why the symptoms fail to satisfy the criteria.


Individuals with marked signs and symptoms of the condition may present to their mental health providers, endocrinologists, or primary health providers. At times, patients may present with gender dysphoria being the main challenge or as an issue confounded with other mental health challenges. Besides, owing to greater access to care, social acceptance, and wider exposure, people with gender dysphoria often present in late adolescence or adulthood. Clinicians should make appropriate referrals to offer affected individuals a stronger structure for support. Scholars have suggested group, family, and individual therapy for children affected by the condition (Bonifacio et al., 2019). Added anticipation of puberty in adolescents is a huge challenge, and as such, caregivers should consider psychotherapy and hormonal treatment. Surgical interventions, hormonal treatment, and psychotherapy can be considered for adults.

When providing care to people diagnosed with gender dysphoria, caregivers should adopt a comprehensive approach involving mental health providers and endocrinologists. When addressing issues regarding a patient’s appearance, caregivers are advised to consider surgical treatment as well as hormonal treatment where applicable. These two treatment options often help patients align their aspirations with their gender identity. Caregivers should also address unhealthy or unrealistic expectations quickly and firmly. They should also encourage patients to have a network of family members, friends, and peers close for social, emotional, and moral support. Caregivers must also enumerate the risks involved with hormonal and surgical interventions. Some of the identified risks include pubertal suppression, bone mineral density, and venous thromboembolism (Goldstein et al., 2019; Lee et al., 2020; Turban et al., 2020).

Hormonal Therapy

The main objective of hormonal therapy is administering and maintaining cross-sex hormones while suppressing the internally produced hormones in their physiological range. Hormonal treatment is mainly administered to adults, although recent research indicates there is some degree of viability for hormonal treatment in adolescents. The desired goals of hormonal treatment in women are achieving a female body contour, induction of breast formation, and elimination of facial hair. For men, the main objective is having an enlarged clitoris and deepening of the voice, cessation of menses, increased libido, and increased muscle mass. Testosterone injectables are administered in men, while in women, a combination of finasteride and estrogen, GnRH agonists, medroxyprogesterone acetate, progestins, and antiandrogens are administered. These treatments have serious side effects, including hypertension, cerebrovascular disease, coronary artery disease, macroprolactinoma, hypertriglyceridemia, liver dysfunction, and thromboembolic disease (Van De Grift et al., 2017).

Surgical Therapy

Prior to surgical interventions, patients are supposed to be put on hormonal treatment for 12 months continuously. Patients are also required to be living in the desired gender role. Surgical therapy is considered the last option in the available treatment options for gender dysphoria. Continuous counseling sessions are recommended while addressing any unrealistic expectations on the part of the patient that cannot be met. Surgeries of this nature are often referred to as top surgeries or bottom surgeries. For transgender women, breast augmentation is one of the most common top surgeries. Metoidioplasty for transgender men is a common bottom surgery. Penile implants and testicular implants are also added as part of the surgical intervention, although the latter two are expensive and rare and therefore uncommon.


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