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Paediatrics > Endocrine > Flashcards

Endocrine Flashcards

1
Q

Name the test that can pick-up congenital hypothyroidism.

A

Guthrie test

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2
Q

What is the most common cause of hypothyroidism:

a) worldwide.
b) In the UK.
c) in a consanguineous pedigree.

A

Worldwide- Idodine deficiency (endemic)
UK- Thyroid gland defects (absent or ectopic)
Consanguinous- Dyshormonogenesis
Other- hypothalamic/pituitary or maternal
antibodies/medication

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3
Q

What is the treatment for a baby with congenital hypothyroidism?

A

Levothyroxine.

Neonatal dose: 10-15 micrograms/kg/od.

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4
Q

Give 3 signs of congenital hypothyroidism.

A 
prolonged neonatal jaundice
delayed mental and physical milestones
short stature
puffy face, macroglossia
hypotonia
constipation
umbilical hernia
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5
Q

Why is it important to detect congenital hypothyroidism?

A

To prevent irreversible cognitive impairment

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6
Q

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?

A

Congenital adrenal hyperplasia. The baby is having a salt-losing adrenal crisis.

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7
Q

What is CAH?

A

An autosomal recessive disease that is the most common cause of insufficient cortisol and mineralocorticoid secretion.

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8
Q

Why might someone with CAH have low sodium and high potassium?

A

They are unable to produce aldosterone.

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9
Q

How can CAH be diagnosed biochemically?

A
  1. Raised levels of 17-alpha-hydroxy-progesterone.
  2. Biochemical abnormalities:
    - Low serum sodium.
    - High serum potassium.
  3. Metabolic acidosis.
  4. Hypoglycaemia.
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10
Q

Describe the treatment for CAH.

A

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.

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11
Q

20 genes have been identified in causing T1DM. Name two.

A
  1. HLADR3.

2. HLADR4.

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12
Q

Which type of DM has a higher risk of transmission?

A

T2DM shows more of a genetic association and so a higher risk of transmission.

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13
Q

Briefly describe the pathophysiology of T1DM.

A

Insulin deficiency -> glycogenolysis, gluconeogenesis, ketogenesis -> increased ketone and glucose production -> vomiting, osmotic diuresis, acidosis -> fluid and electrolyte depletion -> cellular dysfunction, cerebral oedema, shock.

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14
Q

Give 3 symptoms of T1DM.

A
  1. Weight loss.
  2. Polyuria.
  3. Thirst (polydipsia).
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15
Q

Give 3 signs seen in DKA.

A
  1. Acidosis, pH <7.3.
  2. Ketonaemia.
  3. Hyperglycaemia.
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16
Q

Give 3 life-threatening complications of DKA.

A
  1. Cerebral oedema.
  2. Hypokalaemia -> arrhythmias.
  3. Aspiration pneumonia.
  4. Hypoglycaemia.
17
Q

Briefly describe the pathophysiology behind DKA.

A

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.

18
Q

Why might a child with known T1DM have DKA?

A
  1. Non-compliance.
  2. Illness.
  3. Rapidly changing insulin requirements e.g. puberty.
19
Q

Give 3 symptoms of DKA.

A
  1. Unwell.
  2. Lethargic.
  3. Nausea.
  4. Vomiting.
  5. Abdominal pain.
20
Q

Give 3 signs of DKA.

A
  1. Kussmaul breathing.
  2. Subcostal and intercostal recessions.
  3. Tachycardia.
  4. Hypotension.
  5. Dry mucous membranes.
  6. Ketotic breath.
21
Q

Describe the management of DKA.

A
  1. ABCDE.
  2. IV fluid replacement.
  3. Insulin infusion. Fluid should be corrected over 48 hours at an even hourly rate. Glucose, electrolytes and neurological status should also be monitored hourly.
22
Q

Why is it important to correct fluid balance slowly over 48 hours in someone with DKA?

A

Rapid fluid resuscitation can lead to cerebral oedema.

23
Q

Define hypoglycaemia.

A

Someone with a blood glucose less than 2mmol/l.

24
Q

Give 5 hypoglycaemic symptoms.

A
  1. Irritable.
  2. Hungry.
  3. Nauseous.
  4. Shakey.
  5. Anxious.
  6. Sweaty.
  7. Pallor.
  8. Dizzy.
  9. Headache.
  10. Confused.
25
Q

How would you offer support to a child who was newly diagnosed with diabetes?

A
  1. Education - diet and importance of monitoring
  2. MDT input.
  3. Liaison with school.
  4. Refer to support groups.

Paediatrics (21 decks)

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