Paediatric Endocrinology

Question 1

What is the first line management of DKA in a child?

Answer 1

Resus fluid of 10ml/kg over 10 mins

Question 2

How can adrenal insufficiency present in a child?

Answer 2

Lethargy
Vomiting
Poor feeding
Hypoglycaemia
Jaundice
Failure to thrive

Question 3

What are lab results in primary adrenal insufficiency (Addison’s)?

Answer 3

Low cortisol
Low Aldosterone
High ACTH
High Renin

Question 4

What are lab results in secondary adrenal insufficiency (due to pituitary)?

Answer 4

Low cortisol
Low ACTH
Normal aldosterone + Normal renin (Aldosterone is produced independently of the pituitary/hypothalamus)

Question 5

What is congenital adrenal hyperplasia?

Answer 5

Congenital deficiency of 21-hydroxylase

Question 6

What is the hereditary pattern of congenital adrenal hyperplasia?

Answer 6

Autosomal recessive

Question 7

How does congenital adrenal hyperplasia affect hormone levels?

Answer 7

Low cortisol
Low aldosterone

Raised androgens (testosterone)

Question 8

How does a severe case of congenital adrenal hyperplasia present?

Answer 8

Presents in neonatal period
Hyponatraemia
Hyperkalaemia
Hypoglycaemia
Poor feeding, dehydration, vomiting

In females - ambiguous genitalia

Question 9

How does mild congenital adrenal hyperplasia present?

Answer 9

Presents during childhood/after puberty

Females - tall for age, facial hair, best periods, deep voice

Males - tall for age, deep voice, large penis, small testicles

Early puberty in both girls and boys

Question 10

How is congenital adrenal hyperplasia treated?

Answer 10

Lifelong hydrocortisone + fludrocortisone

Question 11

How does growth hormone deficiency present?

Answer 11

Presents at birth

Hypoglycaemia
Severe jaundice
Micropenis (in boys)

If presents later in life - poor growth, short stature, slow development of movement, delayed puberty

Question 12

How is growth hormone deficiency investigated?

Answer 12

Growth hormone stimulation test (with glucagon/insulin)

MRI Brain

Xray of wrist to determine bone age

Question 13

How is growth hormone deficiency managed?

Answer 13

Daily SC growth hormone (Somatropin)

Question 14

How does puberty progress in girls?

Answer 14

Breast buds –> Pubic hair –> menstruation

Question 15

How does puberty progress in boys?

Answer 15

Testicles enlargement –> Penis enlargement –> Scrotum darkening –> Pubic hair –> Deepening of voice

Question 16

What age should delayed puberty be investigated in girls?

Answer 16

13

Question 17

What age should delayed puberty be investigated in boys?

Answer 17

14