Paediatric endocrinology

Question 1

Diabetes is one of the most common chronic diseases to be seen in children. T/F

Answer 1

True

Question 2

What are the stages of development of type 1 diabetes?

Answer 2

Genetic predisposition
Beta cell pathology
Pre-diabetes (large number of beta cells still functioning)
Diabetes

Question 3

What is the typical presentation of type 1 diabetes in children?

Answer 3

Polyuria
Polydipsia
Weight loss 
Enuresis 
Malaise 
Constipation
Oral or vulvulal candida 
Blurred vision

Question 4

What is the typical presentation of DKA?

Answer 4

Vomiting
Nausea
Abdominal pain
Kussmaul respiration
Pear drop breath 
Decreased consciousness 
Coma
Death

Question 5

What are the clinical signs of type 1 diabetes?

Answer 5

Fasting blood glucose >7

Random blood glucose >11

Question 6

What are the clinical signs of DKA?

Answer 6

Ketonuria
Dehydration
Blood pH

Question 7

What two questions are important to ask directly in a child with suspected diabetes?

Answer 7

Polyuria

Polydipsia

Question 8

Should a child with suspected type 1 diabetes be immediately referred to secondary care?

Answer 8

Yes

Question 9

How should suspected type 1 diabetes be investigated?

Answer 9

Random blood glucose

Urinalysis

Question 10

How is DKA management in children different than management in adults?

Answer 10

Weight based
Careful fluid resuscitation
Insulin started one hour after IV fluids given

Question 11

What is the risk with overenthusiastic fluid resuscitation in children with DKA?

Answer 11

Cerebral oedema

Question 12

What are diabetic children routinely screened for?

Answer 12

Retinopathy (fundoscopy)
Microvascular (BP)
Nephropathy (albumin;creatinine ratio)

Question 13

What is the effect of poor diabetes control in children?

Answer 13

Poor growth
Microvascular changes
Social and emotional

Question 14

What are the early changes of microvascular disease in children with type 1 diabetes?

Answer 14

Microalbuminuria 
Cardiovascular autonomic neuropathy (postural hypotension)
Retinopathy
Sensory nerve damage
Skin vascular changes 
Endothelial pathology
Cheiroarthropathy

Question 15

Which factors indicate high risk paediatric patients?

Answer 15

Not seen for over 6 months
High HbA1c
DKA admissions
Social work involvement

Question 16

What are the primary causes of congenital thyroid disease?

Answer 16

Gland dysplasia +/- abnormal location

Inborn errors of metabolism

Question 17

What are the secondary causes of congenital thyroid disease?

Answer 17

Congenital pituitary disease (hypopituitarism)

Question 18

How does congenial thyroid disease present?

Answer 18

Delayed jaundice
Weight gain despite poor feeding
Hypotonia
Umbilical hernia
Constipation
Skin & hair changes

Question 19

How does congenial thyroid disease present?

Answer 19

Delayed jaundice
Weight gain despite poor feeding
Hypotonia
Umbilical hernia
Constipation
Skin & hair changes

Question 20

How is congenital thyroid disease screened for? How is this done?

Answer 20

Gunthrie test - blood spot on day 5 of life to measure TSH and T4

Question 21

When should therapy of congenital thyroid disease be initiated?

Answer 21

Ideally within 2 weeks

2-3 months before cretinism

Question 22

What is cretinism?

Answer 22

Permanent developmental delay

Question 23

Why is there a window of opportunity for treatment?

Answer 23

Baby is protected by placental hormones

Question 24

In what scenarios might acquired thyroid disease present in the young?

Answer 24

Delayed congenital 
Associated with type one diabetes
Autoimmune
Post-infection
Iodine deficiency

Question 25

How might hypothyroidism present in the young?

Answer 25

Delayed puberty Growth failure Educational difficulties Goitre

Question 26

How might hypothyroidism be investigated?

Answer 26

Thyroid function tests (TSH high and T3/4 low) | Thyroid antibody tests (high)

Question 27

How is hypothyroidism treated?

Answer 27

Thyroxine for life

Question 28

How is the dose of thyroxine determined?

Answer 28

By the child's weight

Question 29

Is hyperthyroidism common in the young?

Answer 29

No

Question 30

How can hyperthyroidism present?

Answer 30

``` Eating and behavioural difficulties Sleep disturbance Goitre High pulse Precocious puberty ```

Question 31

How might hyperthyroidism be investigated?

Answer 31

Thyroid function tests (low TSH and high T3/4) | Thyroid antibody tests (high)

Question 32

How is hyperthyroidism treated?

Answer 32

Beta-blockers For the first two years carbimazole +/- thyroxine Surgery Radio-iodine

Question 33

What are the causes of primary underactive adrenal disease in the young?

Answer 33

Hypoplasia Inborn error of metabolism Congenital bilateral hyperplasia

Question 34

What are the causes of secondary underactive adrenal disease in the young?

Answer 34

Pituitary | Suppression secondary to high dose/prolonged steroids

Question 35

What are the causes of overactive adrenal disease in the young?

Answer 35

Cortisol therapy | Adrenal or pituitary cushing's

Question 36

How does an addison's crisis present?

Answer 36

Low sodium, high potassium, hypovolaemia

Question 37

How is an addison's crisis treated?

Answer 37

Salt & cortisol

Question 38

What are the common causes of ambiguous genitalia?

Answer 38

Adrenal hyperplasia Steroid abnormalities Gene/chromosome abnormalities Congenital defects