Presentations
- Abnormal newborn blood spot test
- Acute life-threatening event
- Ambiguous genitalia
- Family history
- History of unexplained childhood death
- Hypertonia
- Hypotonia
- Lethargy
- Maternal thyroid dysfunction
- Parental consanguinity
- Physical abnormalities
- Pregnancy affected by diabetes
- Pregnancy complications as a presentation of a metabolic condition, such as:
- acute fatty liver of pregnancy
- haemolysis, elevated liver enzymes and low platelets (HELLP) syndrome
- Respiratory distress
- Seizures and encephalopathy
- Shock
- Weight loss / Poor feeding
Conditions
- Adrenal insufficiency
- Congenital adrenal hyperplasia
- Hyperglycaemia
- Hyperinsulinemia
- Hypoglycaemia
- Inherited metabolic disorders
- Panhypopituitarism
- Sex chromosome disorders
- Thyroid disorders
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
- Acute life-threatening event
Conditions
- Inherited metabolic conditions, such as:
- fatty acid oxidation disorders
- maple syrup urine disease
- organic acidemias
- urea cycle disorders
- Thyroid hormone consumption in massive haemangioma
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
- Normal intrauterine development of the endocrine axes and postnatal adaptation, including the impact
of preterm birth
- Pathophysiology of:
- important endocrine and metabolic disorders of the newborn, such as:
- adrenal insufficiency
- ambiguous genitalia
- sex chromosome disorders
- thyroid disorders
- inborn errors of metabolism
- metabolic disturbances, including electrolyte abnormalities
- Pathophysiology and prevention of hyperglycaemia and hypoglycaemia
Investigations
- Acid-base balance, including lactate
- Blood glucose levels
- Genetic testing, including:
- exome sequencing
- microarray
- Hypothalamic pituitary gonadal axis tests
- Imaging tests, such as:
- neuroimaging for hypothalamic / pituitary disorders
- nuclear scans for thyroid disorders
- Liver function tests
- Metabolic tests, such as:
- acylcarnitine
- ammonia
- ketones
- newborn blood spot tests
- plasma amino acids
- urine metabolic screen
- Screening and investigation of hypoglycaemia, including:
- Serum biochemistry
- Thyroid function tests and thyroid antibodies
Procedures
- Lumbar puncture
- Skin biopsy for fibroblast culture
