Approach
Only a proportion of transgender people will present to a medical professional with the aim of accessing gender-affirming care. For transgender people seeking gender-affirming treatment, the initial presentation is usually to a primary care clinician, endocrinologist or mental health specialist. Consensus recommendations from international guidelines recommend that when a transgender person seeks gender-affirming treatment with hormones or surgery, the diagnosis of gender incongruence or gender dysphoria should be made by qualified healthcare providers who are familiar with the diagnostic criteria, and who are experienced in assessing for the presence of any confounding/coexisting mental or physical health problems which may complicate the diagnosis.[4][31]
The role of the primary care clinician is typically to carry out the initial assessment before referring to specialist services; alternatively patients may be referred to specialist gender services by a psychologist, nonspecialist psychiatrist or sexual health clinician. Service models vary substantially according to location, but as an overarching principle, diagnostic assessment within a specialist multidisciplinary team is strongly recommended.[31] In practice, if a specialized gender service is unable to assess a patient within a reasonable timeframe, referral to endocrinology or mental health services may be required as an interim measure, depending on the unique clinical scenario and circumstances of the individual.[32] It is important to note that in parts of the world, specialist services for transgender people are limited or entirely unavailable, and so primary care providers may need to take on a much greater greater role in the assessment and management of transgender people seeking gender affirming care, indicating an often unmet need for specialized professional education and training.[4]
Transgender people may be more likely to engage in risky sexual practices, particularly those experiencing social marginalization.[33][34] Sexual history taking may therefore be important to assess risk and guide screening for sexually transmitted infections (STIs), but requires sensitivity and awareness of the person’s comfort level and nonverbal cues. This may take place in either primary or secondary care, but note that in some circumstances it may be appropriate to defer sexual history taking to a follow-up consultation, in order to first establish a good therapeutic alliance. Sexual practices vary greatly, and should not be assumed. Transgender people may have male, female or other transgender partners.
Initial primary care assessment
A full history, including mental state assessment, is recommended as part of the initial primary care assessment.[32] Clinicians should ask about past and present use of hormones and gonadal surgeries, and about any future plans for hormones or surgeries. It is not uncommon for people to self-administer medically unsupervised hormones and/or hormone blockers obtained from the internet, particularly if there is limited access to care, carrying an increased risk of adverse effects compared to medically supervised treatment.[35][36] Clinicians should ask about the use of any herbal remedies or dietary supplements, and ask about any use of silicone injections, which may be administered using unsterile techniques, increasing the risk of bloodborne infection.
Transgender people may experience an increased risk of general mental health issues, including depression, anxiety, post-traumatic stress disorder, suicidality and substance use disorders.[1][2][14] A number of external social factors including stigma, discrimination and minority stress have been suggested as contributing factors.[15] Primary care may represent a safe space for the disclosure of mental health symptoms and concerns, and primary care screening and assessment for mental health conditions is therefore likely to be valuable on an ongoing basis. It is important not to assume that all mental health concerns are necessarily related to the person’s gender identity.[37] Social history taking may identify important sources of support or stress, including family and economic factors.
Secondary care assessment, including diagnosis
As the diagnosis is the gateway to potentially irreversible treatment, it is necessary to identify any comorbidities, exclude differential diagnoses, and make a proper diagnosis using the relevant diagnostic criteria (see Diagnostic criteria).[4][31] Diagnosis is typically made by a mental health professional, but, depending on local service models, another healthcare professional (e.g., endocrinologist or primary care provider) may make the diagnosis, providing that they have appropriate experience, training, and knowledge of diagnostic criteria. Ideally, diagnosis should be made by a clinician who is working within the context of a specialist, multidisciplinary gender identity team.
Clinicians should follow local guidance relevant to their country of practice; for example, US guidance from the Endocrine Society offers detail on the criteria necessary to make a diagnosis of gender dysphoria/incongruence in adults.[31] Clinicians should establish whether relevant diagnostic criteria for gender dysphoria/gender incongruence are met, according to the diagnostic criteria relevant to their location of practice.[1][2]
It is important that all mental health concerns or differential diagnoses (e.g., body dysmorphic disorder) which may complicate/otherwise explain the diagnosis are assessed and potentially treated, prior to considering gender-affirming treatment.[4][31] Assess whether there is a serious intention to change social gender role, or whether the stated desire for hormone treatment or surgery is aimed at removing the characteristics of one sex without seeking the characteristics of the other, or acquiring the characteristics of both, and vitally, with no change of social gender role at all. This last aspect is more in keeping with body dysmorphic disorder or autogynephilia.[27]
Clinicians should identify and assess any underlying medical conditions or risk factors (e.g., cardiovascular risk factors, history of breast cancer) which may complicate or preclude hormonal treatment.[4] Those receiving endocrine treatment who have relative contraindications to hormones such as smoking, diabetes, liver disease, should have an in-depth discussion with their physician concerning the risks and benefits of therapy.[31]
Clinicians should assess capacity to consent for gender-affirming treatment, explore the patient’s goals for treatment including expectations of treatment, establish that the desire for transition is appropriate and persistent, confirm their understanding of the risks versus benefits, and discuss the potential impact on future fertility including fertility preservation options.[4][31]
Clinical presentation
Determine whether there is a preceding history of gender dysphoria or incongruence of childhood, using informants if possible. As children, transgender people may have demonstrated marked gender nonconformity in peer preferences, mannerisms, role-playing, dreams, fantasies, and gender-typed play and toy preferences. They may have stated that they did not wish to develop secondary sexual characteristics of their assigned gender, asked to have primary sexual characteristics removed, or hoped that they would grow into an adult of their expereinced gender.[2]
The history should elicit whether the person has adopted the behaviors of their experienced gender and whether they have taken measures to alter their primary and secondary sexual characteristics. Individuals assigned male at birth may shave their facial, body, and leg hair, and/or bind their genitals. Individuals assigned female at birth may bind their breasts. Transgender people are often reluctant to let sexual partners see or touch their genitals.[2]
The most common manifestation of gender dysphoria/incongruence in birth-assigned males is cross-dressing. Cross-dressing can be described as the wearing of clothes of the other sex in order to enjoy the temporary experience of membership of the other sex.
Transgender people may adopt a first name consistent with their experienced gender.[2]
Physical examination is usually unremarkable. Clothing, hairstyle, vocal style, and mannerisms may resemble those of the patient’s experienced gender.[2]
Laboratory investigations
Serum androgens should be checked in both birth-assigned women and birth-assigned men, both as a baseline and during any hormonal treatment.[32] At diagnosis, the presence of elevated serum testosterone and dihydrotestosterone and unsuppressed follicle-stimulating hormone and luteinizing hormone suggests a partial androgen insensitivity syndrome, which requires genetic counseling for the family. Low testosterone and elevated gonadotropins in males suggests Klinefelter syndrome. Elevated androgens in birth-assigned females may suggest polycystic ovary syndrome.
Recommended baseline blood tests include liver function tests, lipids, hematocrit and hemoglobin (to evaluate for polycythemia), and prolactin.[32]
In some locations it is common practice to measure prostate-specific antigen (PSA) in birth-assigned males at the age of 45 years and over prior to initiation of hormone therapy, to obtain a baseline level, and to rule-out undiagnosed prostate cancer. It is important to note that following the initiation of hormone treatment, PSA may be a less-useful measuring tool for prostate cancer, given that PSA levels ordinarily plummet in those taking gender-affirming hormone therapy; extra care is needed in interpreting results.[38]
Vitamin D levels are routinely measured in some centers, given the high rate of vitamin D deficiency within the transgender population.[39]
A routine sexual health screen to assess for STIs may be carried out in either primary or secondary care, as guided by any specific risk factors noted in the sexual history.
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