Presentations
- Ambiguous genitalia in neonates
- Bifid scrotum and hypospadias
- Bilateral cryptorchidism in males
- Delayed puberty
- Gender incongruence and/or dysphoria
- Gynaecomastia in male
- Labial fusion in female
- Palpable gonads in female
- Penoscrotal hypospadias
- Short stature
- 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
- other, such as:
- cloacal exstrophy
- MRKH
- vaginal atresia
- testicular DSD
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
DSD
- Basis of gender assignment in DSDs
- Causes of sex chromosome 46,XY and 46,XX DSDs
- Counselling patients and families on the likelihood of fertility in individuals with DSDs, and the role of fertility preservation
- Genetic variations causing DSDs
- Natural history of DSDs
- Risks of gonadal malignancy in individuals with Y-containing chromosomes, and appropriate timing of gonadal biopsy and/or gonadectomy
- The need and timing of appropriate pubertal induction
- The process of human sexual differentiation
- The role of human sex chromosomes in sexual differentiation and DSDs
Variations in gender identity
- Biological, cultural, and environmental contributions to gender identity
- Factors which may contribute to gender discomfort, such as:
- other psychological co-occurring conditions
- puberty
- sexuality
- The range of gender diversity and how they relate to:
- gender dysphoria – the distress associated with a conflict between gender identity and anatomy or sex
- transgender – gender identity differs from sex designated at birth
Investigations
- Biochemical investigations:
- adrenal androgen levels
- AMH and inhibin B interpretation
- dynamic testing, such as:
- gonadotropin-releasing hormone (GnRH) stimulation test
- HCG stimulation test
- synacthen
- gonadotropin and sex steroids, including mini puberty interpretation
- Chromosomal investigations, such as:
- FISH for Y material
- karyotype
- role and limitations of microarray
- DSD gene panels and interpretation of variants
- Histopathological markers of pre-malignant changes (interpretation of)
- Laparoscopic diagnostic modalities
- Radiological investigations:
Pharmacological therapy
- Indications for neonatal sex steroid treatment
- Indications and timing of appropriate pubertal blockade and induction
- Principles of pharmacology:
- contraindications and precautions
- drug distribution, metabolism, and excretion
- drug interactions, precautions, and contraindications
- expected effectiveness
- indications
- monitoring requirements – short-, medium-, and long-term
Procedures
- Multidisciplinary team discussion about the consent process for, indications, and timing of:
- external and internal genital surgery
- gonadal biopsy
- gonadectomy
Variations in gender identity
- Assessment of secondary sexual characteristics and pubertal staging
- Investigations for variations in sex characteristics, including hormone profile and karyotype
- Non-pharmacological interventions, such as voice therapy and wearables
- Pharmacological interventions, in conjunction with psychological care:
- anti-androgen medications, GnRH agonists, medications to suppress menstruation
- role and timing of gender affirming hormone therapy
- understanding the effect of puberty blockade based on timing of puberty
- Potential risks of pubertal suppression:
- body composition
- bone health
- cost
- fertility
- impacts on growth
- neurodevelopment
- Role of the multidisciplinary team in diagnosis and management:
- assessment by mental health professionals of capacity to consent to puberty blockade and/or gender affirming hormone therapy
- diagnostic workup by psychological medicine and adolescent medicine physicians, including identification of treatment goals and co-occurring conditions
Differences of sex development
- Basis of gender assignment, including biological, cultural, and social factors
- Counselling regarding assisted fertility options
- Importance of coordinated multidisciplinary care and communication with patients, family, carers, and community providers
- Need for appropriate counselling of the family regarding genetic basis of the DSD, including availability of conception counselling, prenatal diagnosis and/or treatment and recurrence risk in siblings
- Need for full parental disclosure and staged disclosure to the individual at developmentally appropriate time points
- Psychosocial impact on patients, parents, and families
- Referring of families and individuals to peer support
- Roles within the multidisciplinary team to manage variations of sex characteristics, including:
- clinical ethicist
- general practitioner
- geneticist
- gynaecologist
- paediatric endocrinologist
- paediatric surgeon
- paediatrician / neonatologist
- psychologist
Variations in gender identity
- Culturally safe clinical environment for transgender and gender diverse people, such as gender identity, preferred names, and pronouns
- Differing and evolving national and international models of care for gender diverse youth
- Marginalisation faced by the transgender and gender diverse community, including barriers to accessing healthcare
- National and state-specific legislation regarding the prescription of gender affirming hormone therapy
