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Curriculum standards

Knowledge guides

LG23: Variations in sex characteristics and gender identity

Key presentations and conditions

Advanced Trainees will have a comprehensive depth of knowledge of these presentations and conditions.

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Less common or more complex presentations and conditions

Advanced Trainees will understand these presentations and conditions.

Advanced Trainees will understand the resources that should be used to help manage patients with these presentations and conditions.

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Epidemiology, pathophysiology, and clinical sciences

Advanced Trainees will have a comprehensive depth of knowledge of the principles of the foundational sciences.

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Investigations, procedures, and clinical assessment tools

Advanced Trainees will know the scientific foundation of each investigation and procedure, including relevant anatomy and physiology. They will be able to interpret the reported results of each investigation or procedure.

Advanced Trainees will know how to explain the investigation or procedure to patients, families, and carers, and be able to explain procedural risk and obtain informed consent where applicable.

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Important specific issues

Advanced Trainees will identify important specialty-specific issues and the impact of these on diagnosis and management and integrate these into care.

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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:
    • ultrasound
    • MRI
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