Paediatric Aspects of Diabetes and Endocrinology

Question 1

Occurrence of T1DM in children?

Answer 1

A very common chronic disease in children

1/4 present with DKA

Question 2

Stages in development of T1DM?

Answer 2

Patient has a genetic predispositions and a precipitating event causes overt immunologic abnormalities but the insulin release will remain normal

Progressive loss of insulin release starts to occur but glucose will still be normal

There will be a stage before the disappearance of C-peptide where it is normal

Question 3

Symptoms of high BG in children?

Answer 3

Polyuria and polydipsia (nocturnal enuresis may be an issue)

Weight loss and general malaise are more vague in children (must ask about polyuria and polydipsia)

Other symptoms inc:

• Constipation
• Blurred vision
• Oral/vulval candida

Question 4

Symptoms of ketosis/DKA?

Answer 4

Vomiting

Abdominal pain

Kussmaul’s breathing and “pear drop” smell

Drowsiness and altered consciousness

If severe or untreated, leads to coma and death

Question 5

Diagnosis of T2DM?

Answer 5

Fasting blood glucose >7 mmol/L

Random blood glucose >11 mmol/L

Question 6

Diagnosis of DKA?

Answer 6

pH <7.3 and urine ketone +++

Dehydration

Question 7

Referral pathway for suspected T1DM in a child?

Answer 7

Question 8

Random blood glucose in a child with DKA?

Answer 8

Usually markedly raised (>17 mmol/L)

Must be confirmed by taking a venous blood sample, as fingerprick testing can be inaccurate

Question 9

Key differences in DKA management between children and adults?

Answer 9

In children, fluid resuscitation is based on weight; commence insulin 1 hour after IV fluid are started

There is a risk of cerebral oedema in children

Question 10

Aims of T1DM management in children?

Answer 10

Normal growth and development; minimal effects on school attendance

Best achievable HbA1c for each patient:

• Target HbA1c <58 mmol/L
• In those with <1 year duration, aim for <48 mmol/L

Routine screening for microvascular disease:

• BP • Retinal screening
• Urine (albumin : creatinine ratio)

Avoidance of:

• Hypoglycaemic fit
• DKA episodes

Question 11

Consequence poor T1DM control in children?

Answer 11

Social and emotional disruption

Sub-optimal physical growth

Micro-vascular disease

Question 12

Early vascular disease changes in children with T1DM?

Answer 12

Microalbuminuria

CV autonomic neuropathy

Sensory nerve damage

Retinopathy

Cheiroarthropathy (cutaneous condition characterized by thickened skin and limited joint mobility of the hands and fingers, leading to flexion contractures)

Skin vascular changes

Vascular endothelial pathology

Question 13

A 15 year old with T1DM has a BG = 10 mmol/l. They are going to eat a jacket potato for lunch (50g). Their carb ratio is 1:10 and insulin sensitivity is 1:2. The target GB is 6 mmol. Explain the definitions of the ratios. How many insulin units should they take?

Answer 13

Carb ratio of 1:10 means that 1 unit of insulin covers 10g of carbs

Insulin sensitivity of 1:2 means that 1 unit of insulin lowers their BG by 2 mmol/L

The answer is 7 units (5 units to cover their potato and 2 more units to lower their BG to the target)

Question 14

Types of thyroid disease in the young?

Answer 14

Congenital OR acquired

Primary (problem with the thyroid gland), secondary (problem with TSH production from the pituitary gland) OR tertiary (rare but there is a problem with TRH production from the hypothalamus)

Question 15

Types of primary congenital thyroid disease?

Answer 15

Dysplastic gland +/- abnormal site, e.g: sublingual

Inborn error of thyroid hormone metabolism

Question 16

Types of secondary/tertiary congenital thyroid disease?

Answer 16

Congenital pituitary disease

Usually assoc. with hypopituitarism (GH, ACTH, Gonadotrophin deficiency)

Question 17

Clinical symptoms of congenital thyroid disease?

Answer 17

Delayed jaundice

Poor feeding but “normal” weight gain

Hypotonia (umbilical hernia and constipation)

Skin and hair changes

The foetus is usually protected by placental thyroid hormone; absence of thyroxine for >3 months leads to permanent developmental delay (CRETINISM)

Question 18

Screening for congenital thyroid disease?

Answer 18

Guthrie test on day 5

Take a capillary blood spot on to dry blotting paper; measurement of TSH and/or T4 levels

Question 19

Causes of acquired thyroid disease in the young?

Answer 19

COULD BE DELAYED CONGENITAL DISEASE (rather than acquired)

Acquired causes:

• Post-infectious
• Autoimmune
• Iodine deficiency and nutrition
• Other autoimmune diseases, e.g: T1DM

Question 20

Presentation of hypothyroidism in children?

Answer 20

Often has slow progression

Growth failure and delayed puberty

Poor general health and education difficulties

Goitre

Question 21

Ix results in childhood hypothyroidism?

Answer 21

TFTs:

• High TSH
• Low fT4 and fT3

High thyroid cell Ab titres

Question 22

Treatment of childhood hypothyroidism?

Answer 22

Life-long thyroxine replacement (dose related to size of the child)

Question 23

Presentation of hyperthyroidism in children?

Answer 23

Rare but presents with general symptoms, e.g: behavioural problem, sleep disturbance

Goitre

High pulse rate

Precocious puberty

Question 24

Ix results in childhood hyperthyroidism?

Answer 24

TFTs:

• Suppressed TSH
• High fT4 and fT3

High thyroid cell Ab titres

Question 25

Treatment of childhood hyperthyroidism in children?

Answer 25

Initial therapy - β-blockade

Suppressant therapy:

• At least first 2 years - Carbimazole +/- thyroxine
• Permanent cure (radio-iodine, surgery)

Question 26

Types of adrenal disease in the young?

Answer 26

Underactive:

• Primary
• Secondary

Overactive (Cushing’s disease/syndrome)

Question 27

Causes of an underactive adrenal gland in childhood?

Answer 27

Primary:

• Adrenal hypoplasia (absent/dysplastic/destroyed)
• Inborn error of metabolism
• Congenital adrenal hyperplasia (CAH)

Secondary:

• Pituitary disease (congenital/acquired)
• Suppression secondary to high-dose and prolonged steroid therapy

Question 28

Causes of an overactive adrenal gland in childhood?

Answer 28

High dose cortisol therapy

Cushing disease:

• Primary adrenal
• Secondary pituitary

Question 29

Describe congenital adrenal hyperplasia (CAH)

Answer 29

Causes absent cortisol and aldosterone:

• Adissonian crisis with hyponatraemia, hyperkalaemia, hypotension

Causes virilisation (due to increased androgen production) which in:

• Females - causes ambiguous genitalia
• Males - causes precocious puberty

Question 30

Treatment of an Addisonian crisis?

Answer 30

Urgent therapy with salt and cortisol

Question 31

Pathogenesis of the most common type of CAH?

Answer 31

21-hydroxylase deficiency causes cortisol absence and thus high testosterone conversion, leading to foetal virilisation

Question 32

Brief description of the development of the male and female genitalia?

Answer 32

In females, no MIS (Mullerian inhibiting substance) or androgens are produced so the Mullerian duct does not regress; AMH is not produced and their is differentiation and growth of fallopian tubes, uterus and upper 1/3rd of the vagina

In males, they produce AMH and so the Mullerian duct regress, leaving only the Wolffian duct, and their is growth of the seminal vesicles and vas deferens

Question 33

Causes of ambiguous genitalia?

Answer 33

CAH or other steroid abnormalities

Gene and/or chromosomal abnormalities

Congenital defects

Question 34

Assigning a gender to a patient?

Answer 34

A gender must be assigned at birth for legal purposes; however, the patient may wish to change this in the future