Gender Dysphoria Diagnosis

History

Jack Drescher, M.D. (2010) provides a thorough overview of psychiatric diagnoses related to gender identity, including the history and evolution of such conceptualizations. The medicalization of transgender identities and gender identity-related distress has been a controversial topic for decades. This is due in part to concerns about further stigmatization of an already marginalized group. Early theories often conflated homosexuality with transgender identities and took a pathologizing stance toward gender non-conformity. Caveats about the diagnosis will be listed later in this section.

Magnus Hirschfield is credited as among the first physicians to distinguish between same-sex attraction and “transsexualism.” This was followed in 1949 by David Cauldwell who proposed one of the earliest diagnostic conceptualizations related to gender identity with the term “psychopathia transsexulialis.” In 1966, Harry Benjamin, M.D. published his foundational text The Transsexual Phenomenon and is credited with popularizing the term transsexual as it is used today, educating medical professionals about transgender people, and pioneering hormonal treatments to facilitate gender transition.

Despite increased attention to transgender people, the first two editions of DSM contained no mention of gender identity. It was not until 1980 with the publication of DSM–III that the diagnosis “transsexualism” first appeared. In 1990, the World Health Organization followed suit and included this diagnosis in ICD-10. With the release of DSM–IV in 1994, “transsexualism” was replaced with “gender identity disorder in adults and adolescence” in an effort to reduce stigma. However, controversy continued with advocates and some psychiatrists pointing to ways in which this diagnostic category pathologized identity rather than a true disorder.

With the publication of DSM–5 in 2013, “gender identity disorder” was eliminated and replaced with “gender dysphoria.” This change further focused the diagnosis on the gender identity-related distress that some transgender people experience (and for which they may seek psychiatric, medical, and surgical treatments) rather than on transgender individuals or identities themselves.

The presence of gender variance is not the pathology but dysphoria is from the distress caused by the body and mind not aligning and/or societal marginalization of gender-variant people. It needs to be ego-dystonic to qualify as a diagnosis and having a discussion with our patients about the diagnosis prior to charting it is necessary and good care.

The DSM–5 articulates explicitly that “gender non-conformity is not in itself a mental disorder.” The 5th edition also includes a separate “gender dysphoria in children” diagnosis and for the first time allows the diagnosis to be given to individuals with disorders of sex development (DSD). DSM–5 also includes the optional “post-transition” specifier to indicate when a particular individual’s gender transition is complete. In this “post-transition” case, the diagnosis of gender dysphoria would no longer apply but the individual may still need ongoing medical care (e.g., hormonal treatment). Nevertheless, discussions continue among advocates and medical professionals about how best to preserve access to gender transition-related health care while also minimizing the degree to which such diagnostic categories stigmatize the very people that physicians are attempting to help.

The history and differential associated with gender dysphoria.

Criteria: Gender Dysphoria in Adolescents and Adults

A marked incongruence between one’s experienced/expressed gender and assigned gender, of at least six months’ duration, as manifested by at least two or more 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 be rid of one’s primary and/or secondary sex characteristics because of 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)
• A strong 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 has the typical feelings and reactions of the other gender (or some alternative gender different from one’s assigned gender)

The condition is associated with clinically significant distress or impairment in social, occupational, or other important areas of functioning.

Disorders of Sex Development

Disorders of sex development (DSD) refers to a group of medical conditions (e.g., XXY/Klinefelter Syndrome, 45XO/Turner Syndrome, or Androgen Insensitivity Syndrome) in which anatomical, chromosomal, or gonadal sex varies in some way from what would be typically considered male or female. Some individuals with such conditions prefer the term “intersex.”

Infants born with DSD are often assigned to either a male or female sex by parents and physicians. This assignment may be purely social in nature (e.g., gendered name, pronouns, and clothing) or may involve genital surgery. Surgical gender assignment in infants is controversial and opinions vary on its use.

The DSM–5 criteria for gender dysphoria were revised to allow the diagnosis to be given to individuals with DSD. The actual assessment and treatment of an individual with DSD presenting for gender-related concerns is largely the same as other transgender individuals, though there may be unique legal or cultural considerations. For more on working with patients with DSD, see the APA’s Resource Document – Report of the APA Task Force on Treatment of Gender Identity Disorder 2011.

Caveats

• The Gender Dysphoria diagnosis functions as a double-edged sword. It provides an avenue for treatment, making medical and surgical options available to TGNC people. However, it also has the potential to stigmatize TGNC people by categorizing them as mentally ill.
• The ultimate goal would be to categorize TGNC treatment under an endocrine/medical diagnosis.
• In the past, TGNC patients were disproportionally diagnosed with psychotic/mood disorders to explain their gender variance. Because of this, many in the community are understandably skeptical of mental health and psychiatric care.
• There are some genetic explanations for gender dysphoria, categorized in DSM–5 by using the diagnostic specifier “with a disorder of sex development.” Parents and physicians of these patients are typically aware of the genetic anomaly from birth, with treatment beginning in childhood.

Ruling out Psychiatric Illness

• It is common for TGNC people who have grown up in an unsupportive environment to express symptoms characteristic with personality disorders. Impulsivity, mood lability, and suicidal ideation occur commonly. This does not necessarily qualify them for a personality disorder diagnosis because personality disorders are typically lifelong and pervasive. TGNC people typically show a reduction or disappearance of these symptoms once they are in a supportive gender-affirming environment.
• There are no studies indicating that psychiatric illness causes gender dysphoria as a consistent condition over time, although delusions or unstable personality characteristics may manifest as intermittent thoughts or feeling of gender incongruity. Additionally, TGNC people can have other psychiatric disorders (e.g., psychotic, bipolar, depressive, substance use disorders) just as anyone else that is not related to their gender variance.
• Gender dysphoric symptoms may be the primary focus of treatment, but don’t overlook the possibility that other psychiatric symptoms may need to be treated first depending on severity.
• TGNC people can have psychiatric symptoms of psychotic, anxiety, and mood disorders just like any other part of the population.