Print this chapterPrint this chapter

Curriculum standards

Knowledge guides

LG 18: Disorders of the pituitary, hypothalamus, and of water balance

Key presentations and conditions

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

View

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.

View

Epidemiology, pathophysiology, and clinical sciences

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

View

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.

View

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.

View
Presentations
  • Diabetes
  • Failure to lactate
  • Fatigue/Tiredness
  • Fractures
  • Galactorrhoea
  • Headache
  • Hypernatraemia
  • Hyponatraemia
  • Hypotension
  • Loss of axillary/pubic hair
  • Loss of libido
  • Menstrual disturbance
  • Polydipsia
  • Polyuria/Nocturia
  • Sleep disturbance
  • Visual disturbance
  • Weight gain
  • Weight loss
Conditions
  • Functioning pituitary adenomas:
    • acromegaly
    • Cushing syndrome
    • prolactinoma
  • Hypopituitarism (1 or more axes):
    • adenomas
    • apoplexy
    • hormone deficiencies:
      • ACTH deficiency
      • arginine vasopressin deficiency
      • GH deficiency
      • gonadotropin deficiency
      • prolactin deficiency
      • TSH deficiency
    • inherited pituitary disorders
    • late effects from past brain radiotherapy
    • lymphocytic hypophysitis
    • pituitary metastases
    • post-surgical
    • Sheehan syndrome
    • trauma
  • Non-functioning pituitary tumours
  • Recognise acute hypopituitarism as a medical emergency
  • Sellar lesions:
    • craniopharyngioma
    • empty sella
    • Rathke cleft cyst
  • Syndrome of inappropriate antidiuresis (SIAD)

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
  • Aggressive pituitary tumours
  • Familial syndromes associated with pituitary tumours
  • Gonadotropinoma
  • Infiltrative disease:
    • haemochromatosis
    • histiocytosis X
    • Langherhans cell histiocytosis
    • sarcoidosis
  • Pituitary carcinomas
  • Syndromes associated with hypopituitarism:
    • CHARGE syndrome
    • Prader-Willi syndrome
    • septo-optic dysplasia
    • stalk interruption syndrome
    • pineal gland disorders
  • TSHoma:
    • tuberculosis

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

Clinical science

  • Anatomy, physiology, and histopathology of the normal pituitary gland and of pituitary tumours
  • Epidemiology and natural history of pituitary tumour types
  • Functions and regulation of the hypothalamus and pituitary axes
  • Molecular pathways and epidemiology of genetic variants conferring predisposition to pituitary disease

Diagnostic work up

  • Aetiology, pathology, and clinical manifestations of hypothalamic and pituitary disease
  • Complex diagnostic work up and pitfalls in Cushings syndrome
  • Genetic disorders affecting the pituitary as an underlying cause of pituitary disease, and the indications and limitations of genetic tests
  • Limitations, indications, and interpretation of biochemical assays in the diagnostic work up of pituitary disorders
  • Thorough history, physical examination and diagnostic work up of people suspected of presenting with pituitary disease

Medical management considerations

  • Emergency management of acute hypopituitarism
  • Indications, precautions and contraindications, as well as prescribing and monitoring of pituitary hormone replacement:
    • anti-diuretic hormone (Desmopressin)
    • glucocorticoid
    • gonadal steroids
    • gonadotrophins
    • growth hormone
  • Medical management of Cushing syndrome
  • Medical management of common pituitary disorders of excess hormone production:
    • monitoring of treatment efficacy
    • monitoring of underlying condition
  • Principles of pharmacology
  • Thyroid hormone
Investigations
  • Dynamic endocrine testing:
    • specific understanding of indications and contraindications:
      • suspected acromegaly (including glucose tolerance test)
      • suspected ACTH deficiency, including:
        • insulin tolerance test
        • overnight metyrapone test
        • Synacthen stimulation test where appropriate
      • suspected arginine vasopressin deficiency, including:
        • stimulated copeptin testing
        • water deprivation test
      • suspected Cushing syndrome, including:
        • dexamethasone suppression tests
        • salivary testing
        • urine testing
      • suspected growth hormone deficiency (including glucagon stimulation test)
  • Imaging:
    • familiarity with pituitary MRI neuroanatomy
    • indications for imaging of the hypothalamus and pituitary
  • Laboratory biochemistry:
    • interpretation of biochemical testing in the clinical context
    • non-pathological causes for hyperprolactinaemia
    • pituitary function testing in pregnancy
    • properties, principles and indications for biochemical investigation of hypothalamic-pituitary disease:
      • baseline testing
      • dynamic testing
    • specific understanding of the timing, patient preparation and assay platforms suited for pituitary hormone testing
Procedures
  • Indications for inferior petrosal sinus sampling
  • Indications for pituitary radiotherapy
  • Indications for pituitary surgery
  • Pre-, peri- and postoperative management of patient with pituitary disease, with particular emphasis on management of endocrine disturbances

Evidence-based practice

  • Remain abreast of evidence for best practice and apply this using clinical judgement and individual circumstances in partnership with patients
  • Seek multidisciplinary care/review from centres of pituitary care expertise wherever necessary

General management considerations

  • Impact of hypothalamic/pituitary and/or genetic diagnoses on the patient, their partner and, where applicable, their family/carers
  • Incorporate environmentally sustainable practices in clinical care
  • Longitudinal and multidisciplinary care needs of people with pituitary disease
  • Mitigate clinical risk with intercurrent illness management planning, for example, use of medical alert bracelets and sick-day steroid plans when applicable
  • Pre-, peri- and postoperative management of patients with pituitary disease, with particular emphasis on management of endocrine disturbances, including anticipatory management of patients before and after pituitary surgery
  • Understand options for improving equitable access to comprehensive pituitary care for individuals, including multidisciplinary involvement, use of telehealth and other digital health tools, and appropriate multicultural resources

Health needs of specific patient groups

  • Assessment, diagnosis, and management of women with pituitary disorders first presenting in pregnancy
  • Endocrine care for women with pituitary disorders through pregnancy, labour, and postpartum
  • Fertility preservation and treatment options in patients with congenital or acquired pituitary disease affecting the reproductive axis
  • Screening and genetic counselling of patients with inherited pituitary or hypothalamic disease