Presentations
- Delayed puberty
- Gender incongruence and/or dysphoria
- Gynaecomastia in male
- Labial fusion in female
- Primary amenorrhoea
- Short stature
- Subfertility
- Tall stature
- Undervirilisation in male
- Virilisation in female
Conditions
- Congenital adrenal hyperplasia
- Gender incongruence and/or dysphoria
- Klinefelter syndrome
- Turner syndrome
For each presentation and condition, Advanced Trainees will know how to:
Synthesise
- recognise the clinical presentation
- identify relevant epidemiology, prevalence, pathophysiology, and clinical science
- take a comprehensive clinical history
- conduct an appropriate examination
- establish a differential diagnosis
- plan and arrange appropriate investigations
- consider the impact of illness and disease on patients and their quality of life when developing a management plan
Manage
- provide evidence-based management
- prescribe therapies tailored to patients' needs and conditions
- recognise potential complications of disease and its management, and initiate preventative strategies
- involve multidisciplinary teams
Consider other factors
- identify individual and social factors and the impact of these on diagnosis and management
Conditions
Differences of sex development (DSD)
- 46-,XX DSD
- 46-,XY DSD:
- complete gonadal dysgenesis
- defects in androgen action (CAIS, PAIS)
- defects in androgen biosynthesis
- disorders of AMH and AMH receptor
- gonadal regression
- LH receptor defects
- ovotesticular DSD
- partial gonadal dysgenesis
- Ovotesticular DSD:
- androgen excess (CAH, aromatase deficiency, maternal/exogenous)
- gonadal dysgenesis
- testicular DSD
- other, such as:
- cloacal exstrophy
- MRKH
- vaginal atresia
For each presentation and condition, Advanced Trainees will know how to:
Synthesise
- recognise the clinical presentation
- identify relevant epidemiology, prevalence, pathophysiology, and clinical science
- take a comprehensive clinical history
- conduct an appropriate examination
- establish a differential diagnosis
- plan and arrange appropriate investigations
- consider the impact of illness and disease on patients and their quality of life when developing a management plan
Manage
- provide evidence-based management
- prescribe therapies tailored to patients' needs and conditions
- recognise potential complications of disease and its management, and initiate preventative strategies
- involve multidisciplinary teams
Consider other factors
- identify individual and social factors and the impact of these on diagnosis and management
Assessment
- Assessment of capacity to consent to gender affirming hormone therapy, psychological/cognitive comorbidities and referral to mental health professionals for formal assessment of capacity when indicated
- Assessment of secondary sexual characteristics and genitals (when indicated for suspected variations of sex characteristics)
- Biological, cultural, and environmental contributions to gender identity
- Factors which may contribute to gender discomfort including:
- puberty
- sexuality
- other psychological co-occurring conditions
- History, including gender development, treatment goals, and co-occurring conditions that may interact with gender affirming hormone therapy
- Understand the range of gender diversity
Treatment
- Consideration of contraceptive needs
- Discussion and appropriate referral for fertility preservation
- Discussion regarding benefits and side effects of treatment
- Indications, contraindications, and appropriate prescribing of masculinising and feminising hormone therapy
- Management of complications associated with hormone therapy
- Monitoring of hormone therapy and its potential complications, with dose and route of administration adjustment as needed
- Preventative screening and treatment as needed:
- bone health
- breast
- cardiovascular
- cervical screening and associated difficulties
- Recognise the importance of multidisciplinary care
Investigations
-
Biochemistry:
- endocrine dynamic testing:
- Synacthen stimulation test for diagnosis of congenital adrenal hyperplasia
- treatment monitoring and targets
- interpretation of biochemical tests, including factors that affect results such as timing, interaction with medications, patient preparation and different assay platforms
- Karyotype
-
Radiology:
- bone mineral density
- CT scan
- MRI
- ultrasound
Procedures
- Hormone implants (optional)
- Creation of a culturally safe clinical environment for trans and gender diverse people (e.g. preferred names, pronouns, gender identity)
- Gender dysphoria – the distress associated with a conflict between gender identity and anatomy or sex
- Marginalisation faced by the trans and gender diverse community, including barriers to accessing healthcare
- National and state-specific legislation regarding the prescription of gender affirming hormone therapy
- Spectrum of gender identities, including non-binary genders
- Transgender – gender identity differs from sex designated at birth
