Diagnosis is a complex topic. At its most basic level, it is the process of identifying a disease, condition, or injury based on a patient’s symptoms and medical history, along with physical examination and tests where appropriate. Given a diagnosis, a clinician may then be able to identify the correct course of treatment, understand the likely prognosis, and have a common language with both the patient and other clinicians about what is wrong with the patient. Researching best treatments relies on accurate diagnoses.
But diagnoses are not static, and are not simple descriptions, as explained by Suzanne O’Sullivan in her recent book The Age of Diagnosis [1]. Diagnoses are informed by culture, can incorporate new symptoms or test results as understanding becomes more refined, and can experience diagnostic creep beyond the original narrow formulation. And the act of giving a diagnosis is not neutral either; whilst for most, having a diagnosis is helpful and the first step to treatment and recovery, it has been shown that people may unconsciously change behaviour, develop new symptoms or even become sicker, once given a diagnosis. Patients may also begin to identify with an illness, or an illness can morph out of its original formulation into an identity.
This has much relevance to gender medicine. In the discussion below, only adult gender medicine has been considered.
Diagnoses in gender medicine have over the years been subject to some change. The current diagnostic terms used are Gender Dysphoria and Gender Incongruence are used by the current adult service specification [2], under review [3], based on the not-quite-equivalent terms in ICD10 (now ICD11 [4]) and DSM5 [5]. The terms (as relevant to adults) are shown in the box below; the key distinguishing feature is the presence of “clinically significant distress or impairment in social, occupational, or other important areas of functioning” to qualify as dysphoria.
Both the WHO, in describing the development of the ICD11 diagnosis, and DSM [5] describe attempting to destigmatize gender variance, but the continuing need to include a diagnosis to “ensure transgender people’s access to gender-affirming health care, as well as adequate health insurance coverage for such services” [4]. Thus gender incongruence is in the unusual position of warranting medical diagnosis and treatment, whilst also being categorised as a normal variant.
So what, at its heart, is gender medicine trying to treat? The current adult service specification is very unclear about whether it is attempting to reduce the distress of gender dysphoric patients or affirming gender incongruent patients in their ‘preferred gender’, with or without co-existing dysphoria.
If the underlying condition is not accurately described, a treatment plan and prognosis cannot be envisaged, and evaluating treatments to improve the poor evidence base is extremely difficult. If Gender Dysphoria is used as a diagnostic measure, the outcome of the treatment would most obviously be a reduction in the level of distress and improvement in functioning. As Griffen et al summarise [6]: “If merely a natural variation, it becomes difficult to identify the purpose of or justification for medical intervention.”
The development of an identity around an illness is well-described by Dr O’Sullivan [1], with reference to ADHD, and has acknowledged problems. Identifying with an illness reduces the expectation of recovery. It is known that, without intervention, most gender incongruent children will grow out of it, which could be seen as a ‘recovery identity’. However, the current discourse of transgender identities being an unchangeable part of the self (whether genetically, biochemically or neurodevelopmentally determined) means that the recovery identity is no longer available.
As described by Griffen et al [6]: “viewing transgender as a fixed or stable entity, rather than a state of mind with multiple causative factors, closes down opportunities for doctors and patients to explore the meaning of any discomfort”. This further limits the possibility of developing new treatments. There may also develop an ongoing incentive in not ‘recovering’ (i.e. maintaining a trans identity): validation, community and crucially some form of help and support, which may not have been forthcoming for their wider issues.
One of the consequences of the adoption of illness as an identity is the swamping of medical services with people with mild symptoms. This is clearly demonstrated in autism and ADHD services, where children (and also now adults) with mild symptoms have caused a balloon in demand for services, squeezing out those with severe impairments. This is mirrored in gender medicine – where those with incongruence, but not necessarily debilitating dysphoria, have caused a swell in demand for services resulting in a logjam for all.
By departing from the medical model of care for gender distress towards a more inclusive but non-medical view of gender incongruence, for which medical and surgical treatment is still offered, all suffer. Those with significant distress and dysphoria are pushed down the list for treatment and care. Those with non-pathological gender identity variance are told that transition is the solution, and so their identity is further cemented with cosmetic treatments which are often irreversible, even though identities are recognised as being fluid and changeable over time. Both sets of patients, many of whom are known to have complex comorbidities [7] sit on waiting lists with potentially unrealistic expectations of their transition. Transition may possibly be helpful to a small minority, but it should not be the hammer that makes everything look like a nail.
There is no consensus regarding the diagnosis of Gender Dysphoria and therefore nothing against which to judge success, resulting in a lack of evidence-based treatments. We need to return to a situation where distress associated with dysphoria is recognized as a
- O’Sullivan, Suzanne. The Age of Diagnosis. 2025. Hodder Press, London.
- NHS England. Service Specification 1719: Gender Identity Services for Adults (Non-Surgical Interventions). October 2022. Available online: https://www.england.nhs.uk/wp-content/uploads/2019/07/service-specification-gender-dysphoria-servicesnon-surgical-oct-2022.pdf
- NHSE. Terms of reference: Review of the NHS adult gender dysphoria clinics in England. 14/11/2024. https://www.england.nhs.uk/long-read/terms-of-reference-review-of-the-nhs-adult-gender-dysphoria-clinics-in-england/
- World Health Organisation. Gender incongruence and transgender health in the ICD https://www.who.int/standards/classifications/frequently-asked-questions/gender-incongruence-and-transgender-health-in-the-icd (accessed 22/4/25)
- The DSM-5 Diagnostic Criteria for Gender Dysphoria. January 2015. DOI: 10.1007/978-88-470-5696-1_4. In book: Management of Gender Dysphoria: A Multidisciplinary Approach Chapter: The DSM-5 Diagnostic Criteria for Gender Dysphoria Publisher: Springer-Verlag Italia Editors: Trombetta C, Liguori G, Bertolotto M. Available online: https://www.researchgate.net/publication/296700032_The_DSM-5_Diagnostic_Criteria_for_Gender_Dysphoria
- Griffin L, Clyde K, Byng R, Bewley S. Sex, gender and gender identity: a re-evaluation of the evidence. BJPsych Bull. 2021 Oct;45(5):291-299. doi: 10.1192/bjb.2020.73. PMID: 32690121; PMCID: PMC8596152.
- Pinna, F.; Paribello, P.; Somaini, G.; Corona, A.; Ventriglio, A.; Corrias, C.; Frau, I.; Murgia, R.; El Kacemi, S.; Galeazzi, G.M.; et al. Mental health in transgender individuals: A systematic review. Int. Rev. Psychiatry 2022, 34, 292–359.
- The Cass Review: Independent Review of Gender Identity Services for Children and Young People. April 2024. Available online: https://cass.independent-review.uk/home/publications/final-report/