Gender dysphoria and management of transgender patients
Description
Terminology
- Gender identity - internal sense of gender; sex assigned at birth; gender incongruence - the two do not align
- Gender dysphoria - the distress arising from incongruence (DSM-5-TR)
- *ICD-11 moved "gender incongruence" out of the mental and behavioural disorders chapter* into conditions related to sexual health - incongruence itself is not a mental illness
- Trans woman / transfeminine - assigned male at birth, feminine identity
- Trans man / transmasculine - assigned female at birth, masculine identity
- Non-binary - not everyone wants full feminisation or masculinisation; goals must be individualised, and partial or lower-dose regimens are legitimate
Components of gender-affirming care
- Social affirmation (name, pronouns, documents)
- Hormone therapy
- Surgery (chest/breast, genital, facial, voice)
- Voice and communication therapy, hair removal
- Psychological support - for distress and comorbidity, not as gatekeeping
Epidemiology
- ~0.3-0.5% of adults identify as trans or gender diverse; higher in adolescent cohorts
- Referrals have risen substantially over the past decade, with a shift toward assigned-female-at-birth adolescents
- Very high rates of mental health comorbidity and suicidality - largely attributable to minority stress, discrimination and lack of access to care, not to gender identity itself
- ~1-2% of those on hormone therapy discontinue or detransition; reasons include external pressure and discrimination as well as changed identity
Aetiopathogenesis
- Multifactorial and not fully explained - genetic, prenatal hormonal, and neurodevelopmental contributions proposed
- There is no biomarker, no imaging test and no hormone profile that diagnoses gender incongruence. It is a self-reported identity
- Endocrine intervention works by replacing the dominant sex steroid with the affirmed one, plus suppressing endogenous production
Diagnosis
Assessment before hormone therapy
- Persistent, well-documented gender incongruence
- Capacity to consent, with understanding of expected effects, irreversible effects, and unknowns
- Reasonably controlled coexisting medical and mental health conditions - comorbidity is a reason to support, not to refuse
- Australian practice largely follows an informed-consent model in adults, with a mental health assessment where there is diagnostic uncertainty or significant comorbidity
*Fertility counselling BEFORE the first dose*
- Gonadotoxicity of prolonged hormone therapy is incompletely reversible
- Offer sperm cryopreservation or oocyte/embryo cryopreservation before starting; document the discussion
- This is the omission most likely to cause lasting regret and the one most often missed
Baseline investigations
- FBE (haematocrit), UEC (potassium if spironolactone planned), LFT, lipids, HbA1c/glucose
- Total testosterone, oestradiol, LH/FSH, prolactin
- Vitamin D; BMD (DXA) if hypogonadal for a prolonged period, prior gonadectomy without hormones, or other risk factors
- BP, weight, smoking status, VTE and cardiovascular risk
- Sexual health screening; cervical and breast screening as appropriate to organs present
Adolescents - the current Australian position
- Care in Australia has followed the RCH Australian Standards of Care, WPATH SOC-8 and Endocrine Society guidance
- *The NHMRC is conducting a national review of the paediatric standards, with interim advice on puberty blockers expected around mid-2026; Queensland has separately paused new under-18 initiations*
- Check current national and jurisdictional guidance before advising on under-18 care - this is actively changing
- Principles: Tanner stage 2 before GnRH analogue; gender-affirming hormones later; multidisciplinary assessment throughout
Management
A. Feminising therapy (trans women)
Oestrogen
- 17-beta oestradiol - transdermal patch/gel, oral, or injectable
- *Transdermal preferred if age >45, smoker, obese, or any VTE/cardiovascular risk*
- *Never ethinyloestradiol or conjugated equine oestrogens* - disproportionate VTE risk and cannot be monitored by assay
Anti-androgen (until orchidectomy)
| Agent | Notes |
|---|---|
| Cyproterone acetate | Effective at low dose (typically 10-12.5 mg daily or less); dose- and duration-dependent meningioma risk and hyperprolactinaemia - use the lowest effective dose and review the need for it |
| Spironolactone | Monitor potassium and renal function; avoid with ACEi/ARB, K-sparing agents, CKD |
| GnRH analogue | Most complete suppression; used in adolescents and where other agents fail |
| Finasteride | Weak; not a substitute |
Targets and monitoring
- Oestradiol ~250-600 pmol/L; total testosterone <2 nmol/L (female range)
- Bloods at 3, 6 and 12 months, then 6-12 monthly: oestradiol, testosterone, UEC/K+, LFT, lipids, prolactin
- Anti-androgen can usually be stopped after orchidectomy
Expected effects and timelines
| Effect | Onset | Maximum | Reversible? |
|---|---|---|---|
| Decreased libido, spontaneous erections | 1-3 mo | 3-6 mo | Yes |
| Body fat redistribution, softer skin | 3-6 mo | 2-3 yr | Yes |
| Breast growth | 3-6 mo | 2-3 yr | *No* |
| Decreased muscle mass and strength | 3-6 mo | 1-2 yr | Yes |
| Reduced terminal body hair | 6-12 mo | >3 yr | Partial |
| Testicular volume loss, infertility | 3-6 mo | 2-3 yr | *Often not* |
| Voice | *No change* - needs speech therapy or surgery | ||
| Scalp hair | Existing loss does not reverse |
B. Masculinising therapy (trans men)
- Testosterone - transdermal gel/cream, IM enanthate/cypionate (2-3 weekly), or IM undecanoate (10-12 weekly)
- Progestogen or GnRH analogue if amenorrhoea is not achieved on testosterone alone
Targets and monitoring
- Total testosterone in the mid-normal male range (~10-30 nmol/L) - trough level for injectables
- Bloods at 3, 6, 12 months then 6-12 monthly: testosterone, FBE (haematocrit), LFT, lipids, HbA1c, BP
- *Erythrocytosis is the commonest significant adverse effect* - target haematocrit <0.50; if exceeded, reduce dose, change to transdermal, address OSA and smoking, venesect if needed
Expected effects and timelines
| Effect | Onset | Maximum | Reversible? |
|---|---|---|---|
| Acne, oily skin | 1-6 mo | 1-2 yr | Yes - early and expected; warn and treat |
| Amenorrhoea | 2-6 mo | - | Yes |
| Fat redistribution, inc muscle mass | 3-6 mo | 2-5 yr | Yes |
| Voice deepening | 3-12 mo | 1-2 yr | *No* |
| Clitoromegaly, facial/body hair | 3-6 mo | 3-5 yr | *No* |
| Scalp hair loss | >12 mo | Variable | *No* |
- *Testosterone is not contraception* - ovulation can occur despite amenorrhoea
C. Long-term health maintenance
- Bone: adequate, consistent dosing is bone-protective
- *Reduced BMD occurs with under-dosing, interrupted therapy, or gonadectomy without replacement* - periodic DXA, calcium, vitamin D, weight-bearing exercise
- Cardiovascular: standard risk factor management; oral oestrogen and smoking together are the main modifiable VTE risk
- Cancer screening follows the organs present, not the gender marker
- Cervix present -> cervical screening (self-collection is available in Australia and improves uptake)
- Breast tissue present -> BreastScreen per age criteria (trans women after ~5 years of oestrogen)
- Prostate retained -> PSA reference ranges are lower on androgen blockade
- Sexual health screening; HIV PrEP as indicated
- Post-gonadectomy: hormone therapy is lifelong replacement, not elective - stopping causes surgical menopause/andropause and bone loss
Perioperative and inpatient issues
- VTE prophylaxis around major surgery; some services withhold oestrogen 2-4 weeks pre-operatively (balance against dysphoria and evidence of only modest benefit)
- Do not stop hormone therapy on admission by default
- Use the person's name and pronouns; ask about anatomy relevant to the presenting problem rather than assuming
Associations
- Depression, anxiety, self-harm, suicidality (substantially reduced by access to affirming care)
- Autism spectrum condition - over-represented in gender clinic populations
- Eating disorders; substance use
- HIV and other sexually transmitted infections (higher prevalence in trans women)
- Disorders/differences of sex development - a separate diagnostic pathway
- Cyproterone acetate: hyperprolactinaemia, meningioma, hepatotoxicity, depression
- Spironolactone: hyperkalaemia
- Testosterone: erythrocytosis, acne, dyslipidaemia, sleep apnoea, pelvic pain, vaginal atrophy
Natural history & complications
- Hormonal effects follow a predictable timeline; maximum effect at 2-5 years
- Consistently high satisfaction and improved mental health and quality of life on affirming hormone therapy; regret rates are low (~1%)
- Irreversible effects (breast growth, voice deepening, clitoromegaly, facial hair, fertility loss) are the ones that must be discussed in detail before starting
- Fertility loss is often incompletely reversible - the reason preservation is discussed pre-treatment
- Bone density and cardiovascular outcomes on well-monitored therapy appear comparable to the general population; risk concentrates in those under-dosed, unmonitored, or lost to follow-up
- The main preventable harms are: absent fertility counselling, unmonitored erythrocytosis or hyperkalaemia, and disengagement from care because of a bad healthcare experience
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