Endocrinology

Question 1

Presentation of T1DM?

Answer 1

25-50% of children present with DKA. The remaining percentage present with the classic triad of polyuria, polydipsia and weight loss.
Less common presentations include secondary enuresis (bedwetting) and recurrent infections

Question 2

Investigations for when a child presents with new diagnosis of T1DM?

Answer 2

Baseline bloods - FBC, U%Es and formal lab glucose.
HbA1c.
TFTs and thyroid peroxidase antibodies.
Anti-TTG antibodies
Diabetes antibodies - insulin antibodies, anti-GAD antibodes and islet cell antibodies.

Question 3

Normal insulin regime in paeds?

Answer 3

Basal bolous regime is the most common.
Basal - long acting insulin (lantus), typically given at night.
Bolous - short acting insulin (actrapid0 which is usually given 3x/day before meals depending on the number of carbs

Question 4

Types of insulin pumps

Answer 4

Tethered pumps - replaceable infusion sets and insulin. Usually attached to patients waist.
Patch pump - sits directly on skin without any tubes. When run out the whole patch pump needs replaced.
Pumps are given to children over age 12 who struggle contolling HbA1c

Question 5

Features of nocturnal hypoglycaemia?

Answer 5

Common complication when child may be sweaty overnight. Diagnosed by continous glucose monitoring and treated by altering bolus insulin regime and snacks at bed time.

Question 6

How to lower patient’s BM?

Answer 6

1 unit of novorapid should bring sugars down by 2-3mmol/l. Make sure to give dose 4-5 hours to work to avoid dose stacking.

Question 7

Etiology of T1DM?

Answer 7

Presumed environmental trigger (viruses or chemicals etc) affects genetically predisposed individual to initiate T-cell mediated destruction of beta cells.

Question 8

Presentation of DKA?

Answer 8

Abdominal pain,
Polyuria, polydipsia and dehydration,
Kaussmaul respiration,
Acetone-smelling breath.
Features associated with cerebral oedema,
Complications - cerebral oedema, electrolyte changes, dysrhythmias, renal failure.

Question 9

pathophysiology of cerebral oedema in DKA?

Answer 9

Only really occurs in children.
Dehydration and high blood sugars causes water to move from intracellular space to extracellular space in the brain. This causes brain cells to become dehydrated. When you rapidly rehydrate a patient the fluid shifts the opposite way which causes the brain to become oedematous.

Question 10

Presentation and treatment of cerebral oedema?

Answer 10

Presentation - headaches, altered behavior, bradycardia or changes to consciousness.
Management - Slowing IV fluids, IV mannitol and IV hypertonic saline. This needs guidance by paediatrician.

Question 11

Symptoms of hypoglycemia?

Answer 11

Mild neuroglycopenia - feeling faint, hunger, headache and confusion.
Autonomic symptoms - pallor, sweating, nausea and tachycardia
Severe neuroglycopenia - slurred speech, seizure, coma and rarely death.

Question 12

Presentation of adrenal insufficiency in babies?

Answer 12

Lethargy,
Vomiting,
Poor feeding,
Hypoglycaemia,
Jaundice,
Faiilure to thrive.

Question 13

Features of adrenal insufficiency in older children

Answer 13

N+V,
Poor weight gain or weight loss,
Reduced appetite,
Abdo pain,
Muscle weakness or cramps,
Developmental delay/poor academic performance,
Bronze hyperpigmentation

Question 14

Test results for primary vs secondary adrenal failure?

Answer 14

Primary - Low cortisol, high ACTH, low aldosterone, high renin.
Secondary - low cortisol, low ACTH, normal aldosterone and normal renin.

Question 15

Sick day rules of paediatric insufficiency

Answer 15

Minor coughs/colds do not require changes in meds. If more unwell with D+V or temp > 38 then increase dose of steroid (may need to be IM if D+V), and monitor blood sugars more closely

Question 16

Presentation of Addisonian Crisis?

Answer 16

Reduced consciousness,
Hypotension,
Hypoglycaemia,
Hyponatraemia and hyperkalaemia.
This can often be first presentation of addisons disease or can be triggered by infection, trauma or illness in patient with established addisons.

Question 17

Management of Addisonian crisis?

Answer 17

IV hydrocortisone,
IV fluid resuscitation,
Correct hypoglycaemia.

Question 18

Causes of congenital adrenal hyperplasia?

Answer 18

21-hydroxylase deficiency (most common) - normally converts progesterone into cortisol and aldosterone. So build up of progesterone and 17-hydroxyprogesterone.
11-beta hydroxylase deficiency (5%)
17 hydroxylase deficiency (very rare)

Question 19

Presentation of CAH?

Answer 19

1. Virilization: females present with ambiguous genitalia. Male infants go through early puberty. Enough aldosterone that they don’t salt waste but still excess androgens
2. Salt-wasting crisis: Dehydration, hypotension and electrolyte imbalance.

Question 20

Diagnosis and management of CAH?

Answer 20

Diagnosis - measure 17-hydroxyprogesterone levels and ACTH stimulation testing.
Management - glucocorticoid and mineralocorticoid prescriptions.

Question 21

Causes of short stature?

Answer 21

NIDSCED

Normal genetic short stature
Intraurterine growth retardation.
Dysmorphic syndromes (down’s or Turner’s)
Skeletal dysplasia (Achondroplasia)
Chronic systemic disease (IBD, CKD)
Endocrine disorders
Dire social sircumstances.

Question 22

Causes of hypothyroidism in children?

Answer 22

Autoimmune thyroiditis,
Post total-body irratidation (eg, child with previously treated ALL)
Iodine deficiency (most common cause in developing world.

Question 23

Features of Diabetes Insipidus in paeds?

Answer 23

• Either reduced ADH or reduced responsiveness to ADH so get polyuria and polydipsia.
• May be an isolated idiopathic defect or secondary to infection, trauma or tumour.
• Ix with water deprivation test, if central DI then treat with desmopressin. If caused by reduced responsiveness to kidneys then give thaizides and low salt diet.

Question 24

SIADH in children?

Answer 24

• Secretion of excess ADH
• Common stress response and may be cause by CNS disease (meningitis, brain tumours) or lung disease (bronchiolitis or pneumonia).
• Diagnosis by hyponatraemia with low serum osmolality, high urine osmolality and sodium, normal renal function.
• Treat with fluid restriction

Question 25

Phases of growth?

Answer 25

1. Infantile phase (birth to one year): Nutrition dependent with insulin and thyroxine are key.
2. Childhood phase (1 - 5 years): GH and thyroxine dependent.
3. Mid-childhood phase (5 years to puberty): Influenced by adrenal androgens. Grow 5-6cm/year.
4. Pubertal phase: Growth spurt caused by sex steroids. Average growth 30cm.

Question 26

How is growth assessed?

Answer 26

By following 3 parameters:
- Height (length when under 2 years)
- Weight,
- Head circumference

Question 27

Causes of a short stature:

Answer 27

• Familial short stature
• Constitutional delay ( late bloomer)
• IUGR,
• Endocrine disorders (GH deficiency, cushing’s, hypothyroidism)
• Genetics: Achondroplasia, Turner’s syndrome.
• Malabsorption (coeliacs or CF)
• Chronic disease,
• Psychological neglect/deprevation