Endocrinology

Question 1

What are the markers of beta cell destruction?

Answer 1

Islet cell Abs (ICA), Abs to glutamic acid decarboxylase (GAD), Abs to insulin (IAA)

Question 2

Which gene is assoc with increased risk T1DM?

Answer 2

HLA-DR3/4 +ve

Question 3

Dx criteria for T1DM?

Answer 3

Random glucose or OGTT >11.1, or fasting glucose >7

Question 4

Tx regimes for T1DM?

Answer 4

Basal bolus, 1/2/3 injections a day, continuous insulin pump

Question 5

What are blood glucose aims in T1DM?

Answer 5

morning fasting: 4-7, pre-meal 4-7, post meal 5-9, when driving at least 5

Question 6

What is the Mx of hypoglycaemia in a conscious child at school?

Answer 6

1) give 10-20g fast-acting glucose, e.g. lucozade
2) recheck BM in 15mins, repeat step 1 if need to
3) give 10-20g long-acting complex carbohydrate, e.g. slice of bread

Question 7

Mx of hypoglycaemia in unconscious child with IV access?

Answer 7

IV bolus 10% dextrose, max dose 500mg/kg

Question 8

Mx of hypoglycaemia in unconscious child without IV access?

Answer 8

IM glucagon.
If >8y or >25kg - 1mg
If <8y or <25kg - 500mcg

Question 9

Dx criteria for DKA?

Answer 9

Blood glucose >11.1
pH <7.3 or HCO3 <18
Plasm ketones >3, or urine ++

Question 10

Definition of severe DKA?

Answer 10

pH <7.1 (10% dehydrated)

Question 11

What maintenance fluids do you give for DKA?

Answer 11

• <10kg - 2ml/kg/hr
• 10-40kg - 1ml/kg/hr
  >40kg - fixed 40ml/hr

Question 12

How do you work out the fluid deficit (ml) needed?

Answer 12

Fluid deficit = % dehydration x weight x 10

Question 13

What fluids do you give in DKA?

Answer 13

0.9% saline with 40mmol/L potassium chloride (unless bolus or in renal failure)

Question 14

When do you give 5% dextrose in DKA?

Answer 14

When BM <14.

Question 15

Mx once urine is ketone free in DKA?

Answer 15

If not eating - sliding scale insulin

If eating - start SC insulin 30 mins before stopping IV.

Question 16

Signs of cerebral oedema in DKA?

Answer 16

headaches, agitation, rapid decrease HR, increase BP, sudden resp arrest

Question 17

Mx cerebral oedema in DKA?

Answer 17

Immediate IV mannitol: 20%, 0.5-1g/kg over 10-15 mins

Question 18

What classifies mild vs severe FTT?

Answer 18

Mild = falls across 2 centimes, severe = 3+

Question 19

What is catch-down weight?

Answer 19

When baby’s weight drops from birth gentile. Baby finds its genetically determined growth gentile rather than the one determined by IU environment

Question 20

Dx of child with deficiency of 21-hydroxylase?

Answer 20

Congenital adrenal hyperplasia

Question 21

What is a potential complication of congenital adrenal hyperplasia?

Answer 21

Salt loss - leads to adrenal crisis, nom, WL, flops, circulatory collapse

Question 22

What electrolyte deficiency might you see in child with CAH?

Answer 22

Low Na, raised K (due to lack of aldosterone production)

Question 23

At what age is puberty considered precocious?

Answer 23

<8y in girls, <9y in boys

Question 24

most common cause precocious puberty in boys?

Answer 24

intracranial tumours

Question 25

Potential cause of boy with precocious puberty with small testes?

Answer 25

Adrenal cause - tumour, CAH

Question 26

What age is delayed puberty?

Answer 26

girls - 14y, boys - 15y

Question 27

Features of child with constitutional delay in puberty?

Answer 27

Short in childhood, delayed sexual maturation & skeletal maturity, long legs

Question 28

What tests are important to do in disorders of sexual development?

Answer 28

Karyotype (girls - Turner's), measure adrenal & sex hormone levels, USS internal structures, thyroid hormones

Question 29

Mx of delayed puberty in boys?

Answer 29

Younger - oxandrolone | Older - IM testosterone

Question 30

Poss Sx of congenital hypothyroidism?

Answer 30

Usually asymptomatic but picked up on Guthrie. If not - FTT, prolonged neonatal jaundice, constipation, large tongue, pale, cold, mottled

Question 31

What might a deficiency of biopterin cofactor suggest?

Answer 31

PKU. Also deficiency of phenylalanine hydroxylase

Question 32

Child is complaining of going to the toilet a lot and feeling weak. Bloods show raised Na and low K. Possible Dx?

Answer 32

Conn's syndrome. Increased aldosterone --> increased Na reabsorption and increased K loss

Question 33

What features might you expect in a child with short stature due to an endocrine abnormality?

Answer 33

Relatively overweight