Endocrine Flashcards
Name the test that can pick-up congenital hypothyroidism.
Guthrie test
What is the most common cause of hypothyroidism:
a) worldwide.
b) In the UK.
c) in a consanguineous pedigree.
Worldwide- Idodine deficiency (endemic)
UK- Thyroid gland defects (absent or ectopic)
Consanguinous- Dyshormonogenesis
Other- hypothalamic/pituitary or maternal
antibodies/medication
What is the treatment for a baby with congenital hypothyroidism?
Levothyroxine.
Neonatal dose: 10-15 micrograms/kg/od.
Give 3 signs of congenital hypothyroidism.
prolonged neonatal jaundice delayed mental and physical milestones short stature puffy face, macroglossia hypotonia constipation umbilical hernia
Why is it important to detect congenital hypothyroidism?
To prevent irreversible cognitive impairment
A 10-day-old baby presents with collapse and shock. They have low blood sodium and high potassium levels. What is the most likely dx?
Congenital adrenal hyperplasia. The baby is having a salt-losing adrenal crisis.
What is CAH?
An autosomal recessive disease that is the most common cause of insufficient cortisol and mineralocorticoid secretion.
Why might someone with CAH have low sodium and high potassium?
They are unable to produce aldosterone.
How can CAH be diagnosed biochemically?
- Raised levels of 17-alpha-hydroxy-progesterone.
- Biochemical abnormalities:
- Low serum sodium.
- High serum potassium. - Metabolic acidosis.
- Hypoglycaemia.
Describe the treatment for CAH.
Lifelong hydrocortisone to suppress ACTH levels. Fludrocortisone replacement therapy.
Growth, biochemistry and bone age need to be monitored frequently.
Psychological support may also be offered.
20 genes have been identified in causing T1DM. Name two.
- HLADR3.
2. HLADR4.
Which type of DM has a higher risk of transmission?
T2DM shows more of a genetic association and so a higher risk of transmission.
Briefly describe the pathophysiology of T1DM.
Insulin deficiency -> glycogenolysis, gluconeogenesis, ketogenesis -> increased ketone and glucose production -> vomiting, osmotic diuresis, acidosis -> fluid and electrolyte depletion -> cellular dysfunction, cerebral oedema, shock.
Give 3 symptoms of T1DM.
- Weight loss.
- Polyuria.
- Thirst (polydipsia).
Give 3 signs seen in DKA.
- Acidosis, pH <7.3.
- Ketonaemia.
- Hyperglycaemia.
Give 3 life-threatening complications of DKA.
- Cerebral oedema.
- Hypokalaemia -> arrhythmias.
- Aspiration pneumonia.
- Hypoglycaemia.
Briefly describe the pathophysiology behind DKA.
No insulin -> lipolysis -> FFA’s -> oxidised in liver -> ketone bodies -> ketoacidosis. Glucose is not metabolised or stored so the body goes into a ‘starvation state’. Vomiting is common -> further dehydration and worsening acidosis.
Why might a child with known T1DM have DKA?
- Non-compliance.
- Illness.
- Rapidly changing insulin requirements e.g. puberty.
Give 3 symptoms of DKA.
- Unwell.
- Lethargic.
- Nausea.
- Vomiting.
- Abdominal pain.
Give 3 signs of DKA.
- Kussmaul breathing.
- Subcostal and intercostal recessions.
- Tachycardia.
- Hypotension.
- Dry mucous membranes.
- Ketotic breath.
Describe the management of DKA.
- ABCDE.
- IV fluid replacement.
- Insulin infusion. Fluid should be corrected over 48 hours at an even hourly rate. Glucose, electrolytes and neurological status should also be monitored hourly.
Why is it important to correct fluid balance slowly over 48 hours in someone with DKA?
Rapid fluid resuscitation can lead to cerebral oedema.
Define hypoglycaemia.
Someone with a blood glucose less than 2mmol/l.
Give 5 hypoglycaemic symptoms.
- Irritable.
- Hungry.
- Nauseous.
- Shakey.
- Anxious.
- Sweaty.
- Pallor.
- Dizzy.
- Headache.
- Confused.
How would you offer support to a child who was newly diagnosed with diabetes?
- Education - diet and importance of monitoring
- MDT input.
- Liaison with school.
- Refer to support groups.
