Curriculum standards

Knowledge guides

LG22: Disorders of growth and puberty

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

Delayed puberty
Gynaecomastia
Hyperandrogenism
Menstrual irregularity
Precocious puberty
Pubertal arrest
Short stature
Tall stature

Conditions

Growth disorders:
- short stature:
  - intrauterine growth restriction (IUGR)
  - isolated growth hormone (GH) deficiency
  - GH resistance
  - multiple pituitary hormone deficiency
  - syndromal, such as:
    - Down syndrome
    - Noonan syndrome
    - secondary to:
      - constitutional delay of growth and puberty
      - familial
      - other hormone disorders:
        
        Cushing syndrome
        
        hypothyroidism
  - Turner syndrome
  - under-nutrition
- tall stature:
  - familial
  - GH excess
  - syndromal, such as:
    - Kleinfelter syndrome
    - Marfan syndrome
Puberty:
- central precocious puberty:
  - idiopathic
  - intracranial tumours:
    - CNS infection or trauma
    - craniopharyngioma
    - glioma
    - hamartoma
    - neurofibromatosis
    - tuberous sclerosis
- early:
  - early normal variant puberty
  - premature adrenarche
  - premature thelarche
- peripheral precocious puberty:
  - adrenal, such as congenital adrenal hyperplasia, tumours
  - delayed:
    - constitutional delay
    - hypothalamic / pituitary disorders
    - primary gonadal failure
  - exogenous sex steroids
  - obesity-related precocious puberty
  - ovarian – autonomous cysts, McCune Albright syndrome, tumours
  - testicular – familial male limited precocious puberty, tumours
- polycystic ovary syndrome (PCOS)

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

Presentations

Bone pain
Café au lait macules
Failure to thrive
Fibrous dysplasia
Fetal macrosomia
Galactorrhoea
Gynaecomastia
Hypoglycaemia
Ovarian cysts
Peripheral precocious puberty

Conditions

Late effects of cancer treatment
McCune Albright syndrome
Prader–Willi Syndrome
Prolactinoma
Variations of sex characteristics

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

Growth disorders through different phases of human growth (fetal, childhood, and adolescence), and factors contributing to normal growth

Constitutional delay:
- appropriate follow-up
- causes
- growth and maturational pattern of constitutional delay
Effects of parental height in determining genetic height potential
Fetal macrosomia – causes and consequences
Genetic and acquired causes of growth disorders
Intrauterine growth restriction (IUGR):
- causes and consequences
- definition of small for gestational age (SGA)
- natural history
- role and effects of growth, promoting treatment such as growth hormone
Normal variation in growth patterns, including constitutional delay in growth and puberty
Psychological effects of short stature and tall stature

Pharmacological therapy

Advantages and disadvantages of various delivery systems for gonadal replacement
Agents used to slow epiphyseal maturation, such as aromatase inhibitors
Effects of therapy for other conditions which may affect growth and puberty, including chemotherapy and iron overload from recurrent transfusions
Knowledge of the pharmacological / hormonal therapy indicated for:
- growth disorders:
  - constitutional delay of growth and puberty
  - GH excess
  - GH resistance
  - short stature – indications for growth hormone therapy, potential risks, and expected outcomes
  - tall stature
- puberty disorders:
  - delayed puberty:
    - indications and options for pubertal induction
  - PCOS:
    - antiandrogen agents
    - metformin
    - oral contraceptive pill
  - precocious puberty:
    - long-acting gonadotropin-releasing hormone (GnRH) agonists

Puberty

Actions of the main sex steroids:
- adrenal
- ovarian
- testicular
Developmental and psychosocial effects of precocious puberty and delayed puberty
Difference between central and peripheral precocious puberty, and the investigation and management considerations for both
Early normal variant puberty, precocious puberty, and premature adrenarche / thelarche, and factors that affect their outcomes
Factors that regulate the onset of puberty
Investigations and management of hyperandrogenism
McCune Albright syndrome – genetics and mechanism of clinical manifestations
Normal development of the female and male reproductive system
Normal regulation of the hypothalamic-pituitary-gonadal axis
Normal stages of sexual maturation in neonatal infants, children, and adolescents
Presentations of hypogonadism in childhood, adolescence, and adulthood
Principles of pubertal induction and ongoing gonadal replacement in males and females
Pubertal suppression

Investigations

Baseline laboratory investigations:
- 25-Oh vitamin D, alkaline phosphatase, calcium, magnesium, parathyroid hormone, phosphate
- adrenal androgen levels:
  - 17-hydroxyprogesterone
  - androstenedione
  - dehydroepiandrosterone sulphate (DHEAS)
  - progesterone
- AFP, HCG (tumour marker)
- anti-mullerian hormone (AMH)
- blood film
- coeliac serology, including IgA level
- creatinine, electrolytes, full blood count, liver function tests, urea
- growth hormone level, insulin-like growth factor 1 (IGF-1), insulin-like growth factor binding protein 3 (IGFBP3)
- inflammatory markers:
  - C-reactive protein
  - erythrocyte sedimentation rate
- inhibin B
- iron studies
- LH, FSH
- oestradiol or testosterone
- prolactin level
- thyroid function (TSH, fT4, fT3)
Dynamic hormone tests:
- GnRH stimulation
- growth hormone stimulation test
- HCG stimulation
- oral glucose tolerance test for GH excess
Genetic investigations:
- CGH array
- directed molecular testing of relevant genes
- karyotype
Imaging:
- brain MRI
- pelvic ultrasound
- x-rays (including bone-age x-rays)
Urine tests:
- urine metabolic screen
- urine steroid profile

Clinical assessment tools

Disease specific growth charts (e.g. Turner specific growth chart)
Growth charts
Height prediction tables
Midparental height calculations
Tanner staging of puberty
Testicular volume estimation

Evidence-based clinical practice

Evidence for best practice, and application of this using clinical judgement and individual circumstances, in partnership with patients

General management considerations

Appropriate follow-up
Educate, support, and empower people to self-manage their condition
Environmentally sustainable practices in clinical care
Impact of cultural, geographic, health literacy, financial, and social barriers to accessing comprehensive care
Impact of a diagnosis on an individual, their family, their life, and their life stages
Impact of socioeconomic determinants of health outcomes
Options for improving equitable access to comprehensive health care delivery for individuals, such as:
- multidisciplinary involvement
- resources appropriate to patients’ language and cultural needs
- use of telehealth and other digital health tools
Physiological, psychological, and social factors

Health needs of specific patient groups

Counselling of patients and families regarding future fertility with certain conditions, such as Klinefelter syndrome and Turner syndrome
Management of puberty in patients with special needs
McCune Albright syndrome:
- consequences of polyostotic fibrous dysplasia
- evaluation of hormone excess
- genetics
- interpretation of dynamic endocrine testing for precious puberty
- mechanism and clinical manifestations
- presentation and interpretation of investigations in gonadotropin-independent precocious puberty
- radiological investigations for fibrous dysplasia
- risk of malignancy
- typical appearance of skin lesions
Multiple-pituitary hormone deficiencies
Turner syndrome:
- counselling of patients and families regarding:
  - endocrine and non-endocrine manifestations
  - long-term sequelae