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