Paediatric growth , development and endocrine problems

Question 1

how is congenital hypothyroidism tested in neonates?

Answer 1

heel prick test

Question 2

what are the 2 main causes of congenital hypothyroidism?

Answer 2

athyreosis (absence or functional deficiency of TH)

dyshormonogenic

Question 3

what childhood problems can acquired hypothyroidism i.e. hashimotos cause in a child?

Answer 3

lack of height gain
pubertal delay
poor school performance

Question 4

what are the causes of obesity in children?

Answer 4

simple obesity
endocrine i.e. hypothyroidism 
drugs i.e. steroids 
syndromes i.e. turners
hypothalamic damage

Question 5

how would you assess an obese child?

Answer 5

height 
weight 
BMI 
skin folds 
waist circumference

Question 6

what would you ask in the history of a child with obesity when trying to work out the cause?

Answer 6

diet 
physical activity
FHx
symptoms suggestive of;
- syndrome (learning difficulties)
- HPA pathology (lack of appetite control)
- endocrinopathy (growth failure)
- diabetes

Question 7

give an examples of child specific complication can occur from childhood obesity?

Answer 7

slipped upper femoral epiphysis

polycystic ovarian syndrome

Question 8

how might a child under 5 present with diabetes?

Answer 8

nappies more wet than usual 
irritability and behavioural changes 
blurred vision 
oral / vulvular thrush 
constipation 
recurrent skin infections

Question 9

what are th symptoms of DKA?

Answer 9

abdominal pain 
nausea and vomiting 
ketonic / sweet breath 
rapid sighing breathing (kaussmaul sign)
confusion 
altered consciousness 
coma

Question 10

if you suspected diabetes in a child, what would be your next steps?

Answer 10

finger prick test for random blood glucose
if > 11mmol/L then urgent referral to specialist for same day review

don’t wait for blood tests, or fasting blood glucose or urinalysis!
act quickly!

Question 11

what is a red flag sign for diabetes in children?

Answer 11

return to bed wetting when previously dry

Question 12

what factors influence a childs height?

Answer 12

age 
sex 
nutrition 
parental height 
socio-economic status 
emotional wellbeing 
growth disorders 
race 
puberty 
skeletal maturity 
chronic disease

Question 13

how would you measure a childs height?

Answer 13

length
height
head circumference
sitting height if concerns about disproportion
bone age
plot mid parental height and target gentile range
pubertal assessment

Question 14

what are pathological causes of short stature?

Answer 14

undernutrition
chronic illness i.e. IBD, coeliac, asthma
iatrogenic i.e. steroids
psychological and social
hormonal i.e. growth hormone deficiency, hypothyroidism
syndromes i.e. turners, trader willi syndrome

Question 15

if a child was found to be abnormally short for their age and you suspected a pathological cause, what investigations would you carry out to determine th cause?

Answer 15

FBC and ferritin - coeliac, crohns
U&Es, LFTs, Ca, CRP 
coeliac serology and ida
IGF-1, TFT, prolactin, FSH, LH 
karyotype - turners 
MRI

Question 16

if a child was found to have low IGF-1, what investigation would you do next?

Answer 16

growth hormone stimulation test

determines if isolated GH deficiency

Question 17

what is precocious pseudo puberty?

Answer 17

development of sexual characteritics very early 
due to a rapid rise in sex adrenal hormones 
but gonadotrophins (FSH and LH) are normal/low

Question 18

what are causes of pubertal delay?

Answer 18

constitutional pubertal delay 
gonadal dysgenesis i.e. turners, kleinfelters
chronic disease i.e. asthma, crohns 
impaired HPA i.e. kallmans syndrome
peripheral i.e. cryptochordism

Question 19

what tanner stages are used to identify central precocious puberty?

Answer 19

girls - breast development B2

boys - testicular volume 3-4ml + genital development G2

Question 20

what are the stages in the tanner staging of puberty?

Answer 20

B - breast development 1-5
G - genital development 1-5
AH - axillary hair 1-4
PH - pubic hair 1-5
T - testicular volume 2-20ml

Question 21

how do you determine testicular volume?

at what volume has a boy reached puberty?

Answer 21

orchidometre

3-4ml

Question 22

what staging is used for pubertal development?

Answer 22

tanner staging

Question 23

if a child has ambiguous genitalia, what condition would you want to exclude for the possible cause?

Answer 23

congenital adrenal hyperplasia

Question 24

what could be a possible cause of precocious pseudo puberty?

Answer 24

congenital adrenal hyperplasia

Question 25

if a child has central precocious puberty, what investigation would you carry out to test for a possible cause?

Answer 25

head MRI to exclude pituitary lesion

Question 26

what is early and late puberty in a girl?

Answer 26

early < 8 years

late > 13 years

Question 27

what is early and late puberty in a boy?

Answer 27

early < 9 years

later > 14 years

Question 28

what is the first and last developmental stages in girls puberty?

Answer 28

first = breast development 
last = menarche

Question 29

what is the first and late developmental stages in boys puberty?

Answer 29

first = testicular growth 
last = facial hair

Question 30

when would you refer a child for investigations of their development?

Answer 30

extremely short or tall stature
height below target 
abnormal height velocity 
history of chronic disease 
obvious dysmorphic features 
early or late puberty 
(girls < 8 or > 13, boys < 9 or > 14)