The diagnostic classifications related to gender identity have undergone significant transformations over the decades. The path to understanding and diagnosing conditions related to gender identity, particularly what was once known as “gender identity disorder,” has been marked by both progress and controversy. The medicalization of transgender identities and the distress associated with gender identity have been subjects of intense debate, often raising concerns about the potential for increased stigmatization of a community already facing marginalization. Early perspectives frequently confused homosexuality with transgender identities, adopting a pathologizing stance toward those who did not conform to traditional gender norms.
Magnus Hirschfeld emerged as a pioneering figure, being among the first physicians to differentiate between same-sex attraction and “transsexualism.” Building on this foundation, David Cauldwell in 1949 introduced one of the earliest diagnostic concepts related to gender identity, coining the term “psychopathia transsexulialis.” A landmark moment arrived in 1966 with the publication of Dr. Harry Benjamin’s seminal work, The Transsexual Phenomenon. Benjamin is widely recognized for popularizing the term “transsexual” as it is understood today, educating the medical community about transgender individuals, and spearheading hormonal treatments to facilitate gender transition.
Alt: Dr. Harry Benjamin, a pioneer in transgender healthcare, photographed at the New York Academy of Medicine.
Despite growing attention towards transgender individuals, the initial editions of the Diagnostic and Statistical Manual of Mental Disorders (DSM) remained silent on gender identity. It wasn’t until 1980, with the release of DSM-III, that “transsexualism” was officially recognized as a diagnosis. In 1990, the World Health Organization followed suit, incorporating this diagnosis into the ICD-10. The publication of DSM-IV in 1994 marked a shift in terminology, replacing “transsexualism” with “gender identity disorder in adults and adolescence.” This change was intended to lessen stigma, yet controversy persisted as advocates and some psychiatrists argued that this diagnostic category still pathologized identity rather than a genuine disorder.
A significant paradigm shift occurred with the release of DSM-5 in 2013. “Gender identity disorder” was removed and replaced by “gender dysphoria.” This revision placed the diagnostic focus on the distress experienced by some transgender individuals due to their gender identity (for which they might seek medical, psychiatric, or surgical interventions), rather than on transgender identities or individuals themselves.
The core concept became that gender variance itself is not a pathology. Instead, dysphoria arises from the distress caused by the incongruence between one’s body and mind, and/or societal marginalization experienced by gender-variant people. For a diagnosis to be applicable, this distress must be ego-dystonic, meaning it is in conflict with the individual’s desired self-image. Open communication with patients about the diagnosis before formally charting it is deemed essential for responsible and ethical care.
Alt: The logo for DSM-5, representing the fifth edition of the Diagnostic and Statistical Manual of Mental Disorders, which marked a significant change in gender identity diagnosis.
The DSM-5 explicitly clarifies that “gender non-conformity is not in itself a mental disorder.” The fifth edition also introduced a separate diagnosis of “gender dysphoria in children” and, for the first time, allowed the diagnosis to be applied to individuals with disorders of sex development (DSD). Furthermore, DSM-5 included an optional “post-transition” specifier to indicate when an individual’s gender transition is complete. In such “post-transition” cases, the diagnosis of gender dysphoria would no longer be applicable, although the individual might still require ongoing medical care, such as hormone therapy. Despite these advancements, discussions continue among advocates and medical professionals regarding the optimal approach to ensure access to gender transition-related healthcare while minimizing the potential for diagnostic categories to stigmatize the very individuals they aim to assist.
Criteria: Gender Dysphoria in Adolescents and Adults
The diagnostic criteria for Gender Dysphoria in Adolescents and Adults, as outlined in DSM-5, stipulate:
A marked incongruence between one’s experienced/expressed gender and assigned gender, of at least six months’ duration, as evidenced by at least two of the following:
- A marked incongruence between one’s experienced/expressed gender and primary and/or secondary sex characteristics (or in young adolescents, the anticipated secondary sex characteristics).
- A strong desire to eliminate one’s primary and/or secondary sex characteristics due to a marked incongruence with one’s experienced/expressed gender (or in young adolescents, a desire to prevent the development of the anticipated secondary sex characteristics).
- An intense desire for the primary and/or secondary sex characteristics of the other gender.
- A strong desire to be of the other gender (or some alternative gender different from one’s assigned gender).
- A strong desire to be treated as the other gender (or some alternative gender different from one’s assigned gender).
- A strong conviction that one possesses the typical feelings and reactions of the other gender (or some alternative gender different from one’s assigned gender).
Furthermore, the condition must be associated with clinically significant distress or impairment in social, occupational, or other important areas of functioning.
Disorders of Sex Development (DSD) and Gender Dysphoria
Disorders of sex development (DSD), sometimes referred to as “intersex” conditions, encompass a range of medical conditions where anatomical, chromosomal, or gonadal sex characteristics deviate from typical male or female development. Examples include XXY/Klinefelter Syndrome, 45XO/Turner Syndrome, and Androgen Insensitivity Syndrome.
Infants born with DSD are often assigned a sex (male or female) by parents and medical professionals. This assignment can be purely social, involving gendered names, pronouns, and clothing, or may include surgical interventions on genitalia. Surgical gender assignment in infants with DSD remains a controversial topic with varying opinions on its appropriateness and use.
The DSM-5 revisions expanded the criteria for gender dysphoria to include individuals with DSD. The assessment and treatment approaches for individuals with DSD who present with gender-related concerns are largely consistent with those for other transgender individuals. However, unique legal and cultural factors may need to be considered. For more detailed information on working with patients with DSD, the APA’s Resource Document – Report of the APA Task Force on Treatment of Gender Identity Disorder 2011 offers further guidance.
Caveats and Considerations
The gender dysphoria diagnosis presents a complex situation. While it serves as a crucial pathway to accessing necessary medical and surgical treatments for transgender and gender non-conforming (TGNC) individuals, it also carries the risk of stigmatization by categorizing TGNC people within a mental health framework.
Ideally, the long-term goal would be to classify TGNC healthcare needs under endocrine or medical diagnoses, removing the mental health classification altogether. Historically, TGNC patients were sometimes misdiagnosed with psychotic or mood disorders to explain their gender variance. This history has understandably led to skepticism towards mental health and psychiatric care within the TGNC community.
It’s important to note that genetic factors may contribute to gender dysphoria, as acknowledged in DSM-5 through the diagnostic specifier “with a disorder of sex development.” In these cases, parents and physicians are often aware of a genetic anomaly from birth, and treatment may begin in childhood.
Ruling Out Co-occurring Psychiatric Illness
It is not uncommon for TGNC individuals, particularly those raised in unsupportive environments, to exhibit symptoms that might resemble personality disorders. Impulsivity, mood instability, and suicidal thoughts can occur. However, these symptoms do not automatically warrant a personality disorder diagnosis, as personality disorders are typically characterized by lifelong and pervasive patterns. Often, TGNC individuals experience a significant reduction or even disappearance of these symptoms once they are in a supportive, gender-affirming environment.
Currently, no studies definitively establish psychiatric illness as a direct cause of gender dysphoria as a persistent condition. While delusions or unstable personality traits might manifest as temporary thoughts or feelings of gender incongruence, it’s crucial to recognize that TGNC individuals can also experience other psychiatric conditions (such as psychotic, bipolar, depressive, or substance use disorders) unrelated to their gender variance, just like any other population group.
While addressing gender dysphoric symptoms is often a primary focus of treatment, clinicians should remain vigilant for the possibility of co-occurring psychiatric symptoms that may require immediate attention depending on their severity. It is essential to provide holistic care that addresses both gender identity-related distress and any other mental health needs.
