Growth/Endocrine/Metabolic

Question 1

What is checked at the annual diabetes review from the age of 12 onwards?

Answer 1

Retinas, U+Es to assess renal function, peripheral neuropathy with monofilament on feet

Question 2

Which genes are linked to Type 1 Diabetes Mellitus?

Answer 2

HLA-DR3 and HLA-DR4

Question 3

How is T1DM diagnosed in children?

Answer 3

Sympotomatic & random blood glucose > 11 mmol/L
OR
If doubt, fasting blood glucose > 7 mmol/L

Question 4

What situations can predispose to hypoglycaemia?

Answer 4

Mismatch between insulin required and dietary intake, exercise, alcohol, stress, hot weather

Question 5

What is the commonest cause of excess androgens producing virilisation in females leading to ambiguous genitalia?

Answer 5

Congenital adrenal hyperplasia

Question 6

In what conditions is there gonodatrophin insufficiency resulting in a small penis and cryptorchidism?

Answer 6

Prader-Willi syndrome and congenital hypopituitarism

Question 7

What is the cause of congenital adrenal hyperplasia and what are the effects of this?

Answer 7

Usually results from deficiency of 21-hydroxylase, characterised by cortisol deficiency with or without aldosterone deficiency and androgen excess. The deficiencies stimulate the pituitary to release ACTH leading to adrenal cortical hypertrophy and increased androgens. The lack of aldosterone leads to salt loss (lower sodium and raised potassium)

Question 8

How does congenital adrenal hyperplasia present?

Answer 8

Virilisation of the external genitalia in females. There may be an enlarged penis and pigmented scrotum in males. In those that have aldosterone deficiency (salt losers; 80%), by 1-3 weeks of age, get salt losing adrenal crisis presenting as vomiting, weight loss, floppiness and circulatory collapse

Question 9

What investigation finding aids diagnosis of congenital adrenal hyperplasia?

Answer 9

Markedly raised 17alpha-hydroxyprogesterone (metabolic precursor) in the blood

Question 10

How is congenital adrenal hyperplasia manged?

Answer 10

Females may require corrective surgery in first year of life. Definitive sexual construction surgery is delayed until puberty.
Lifelong glucocorticoids to suppress ACTH and mineralcorticoids in salt losers.

Question 11

Which, relatively common, syndromes are associated with hypothyroidism?

Answer 11

Down’s and Turner’s

Question 12

How might congenital hypothyroidism present?

Answer 12

(Often asymptomatic and picked up on screening)
FTT, feeding problems, prolonged jaundice, constipation, pale/cold/motttled/dry skin, coarse facies, large tongue, goitre, umbilical hernia, delayed development.

Question 13

Which enzyme is absent in Phenylketonuria (PKU)?

Answer 13

Phenylalanine hydroxylase (PAH) enzyme responsible for converting phenylalanine to tyrosine. This can lead to a build up of potentially neurotoxic metabolites.
(This is an autosomal recessive disorder)

Question 14

How is PKU managed?

Answer 14

Strict low phenylalanine diet (controlled intake of meat, eggs, cheese, milk).