Paeds ILA 2 - growth and puberty

Question 1

DKA management. (GCS = 8, dehydration 5%)

- ABCD , fluids, etc.

Answer 1

Emergency management
A – Airway – intubation + NG tube
B – 100% oxygen
C – perfusion, blood samples, HR, blood pressure, fluid bolus (10ml/kg)
Blood Ix – Blood glucose, blood gas, blood ketone, UEs,
Other Ix: FBC, Blood culture

Question 2

DKA fluid management.

a) Fluid bolus for dehydration
b) Initial treatment - 2 fluid types
c) Add insulin after…?
d) When BM < 14, add…?
e) Monitoring

Answer 2

a) NaCl 0.9% 10ml/kg
b) NaCl 0.9% + 20 mmol KCl per 500ml bag
c) 1-2 hours
d) 0.45% NaCl with 10% glucose

e) - Obs, neurology obs
- Bloods: glucose, ketones, UEs (esp K+), blood gas

Question 3

Glucose thresholds

a) Normal range fasting glucose
b) Impaired fasting glucose
c) Impaired glucose tolerance
d) Pre-diabetes (HbA1c)
e) To diagnose gestational diabetes

Answer 3

a) 3.9 - 5.5
b) 6.1 - 6.9
c) 2h post ingestion of 75g oral glucose: 7.8 - 11.0
d) 42 - 47
e) 5.6 (fasting) and 7.8 (OGTT)

Question 4

a) How would you differentiate between primary and secondary CH on serum thyroid bloods?
b) What is the f/u investigation for
i) primary CH
ii) secondary CH?

Answer 4

a) TSH (high: primary, low: secondary)

b) i) Primary: Maternal anti-thyroid Ab, US thyroid, Serum Thyroglobulin, urine iodine, Radionuclide uptake/scan
ii) MRI Brain, Isolated TSH gene analysis, Assess other pituitary hormone deficiencies, Fundoscopy : optic nerve hypoplasia

Question 5

Collapsed neonate.
a) 4 main differentials

b) Immediate management of a collapsed neonate
- In females, look for the presence of…? (DD: CAH)

Answer 5

a) Sepsis, NAI, congenital heart disease, metabolic, NEC

b) ABCDE, Paediatric Sepsis 6 and fluid resus
A (irway)
B (reathing) – high flow oxygen (10l/min)
C (irculation) – Rx hypovolaemia & hypoperfusion i.e. IV/IO access, push fluid bolus (saline/albumin)
D (isability) (AVPU) Pupillary Reaction
E (nvironment) – body temperature, glucose, urine output

Septic screen: FBC, U&E, Blood culture, CRP, Blood gas
IV/IO antibiotics
Bolus 0.9% NaCl 10-20 ml/kg and volume replacement
IV hydrocortisone
Monitoring of blood glucose
Females – ambiguous genitalia?

Question 6

CAH.

a) Clinical features
b) Investigations and expected results
c) Management
d) Why is antenatal dexamethasone controversial in the treatment of pregnancies at risk of CAH?

Answer 6

a) Girls: ambiguous genitalia
Boys: salt-losing in infant (like Addison’s) - collapse, hypotension
Older children: pigmentation, pubertal problems

b) UEs - low Na, high K,
Glucose low
Blood gas - metabolic acidosis
Hypotension

c) IV hydrocortisone
- Long term: fludrocortisone

d) It is only effective at reducing the impact of ambiguous genitalia in females.
If parents are affected, there is only a 1 in 8 chance of there being an affected female baby (AR inheritance).

Question 7

Cerebral oedema.

a) Diagnostic criteria
b) Other supporting criteria
c) Early signs/symptoms
d) Management

Answer 7

a) Abnormal posturing (decorticate / decerebrate)
Cheyne-Stokes respiration
Abnormal motor response

b) HR decelerations
Altered GCS
Incontinence (new)

c) Headache, irritability, altered mental state

d) - CT head
- Mannitol

Question 8

Turner syndrome.

a) Genotype and phenotype
b) Risk factors
c) Turner’s syndrome should be considered in any girl with which two clinical features?
d) Other features (mnemonic: CLOWNS)
e) Investigations

Answer 8

a) Female missing an X chromosome: 45 XO
b) No known risks (random; note - advanced maternal age not correlated with Turner’s)
c) Short stature or primary amenorrhoea

d) CLOWNS: (not exhaustive list)
Cardiovascular - CoA/ most other congenital HD
Lymphoedema - hands and feet
Ovarian failure - streaky ovaries; primary amenorrhoea
Webbed neck
Nipples widely spaced
Short stature

e) - Chromosome analysis
- For complications: height and weight, BP, ECHO/ECG, DEXA, hearing test, eye test, HbA1c, TFTs, coeliac serology, counselling, etc.

f) - Short stature = Growth Hormone
- Ovarian failure = COCP

Question 9

Klinefelter syndrome.

a) Genotype and phenotype
b) Should be suspected in any adult male with which two features?
c) Other features
d) Investigations and management

Answer 9

a) Male with extra X chromosome(s): usually 47 XXY
(less commonly 48 XXXY, 48 XXYY, 49 XXXXY etc.)

b) Small testes and infertility
c) Gynaecomastia, wide hips, reduced facial and pubic hair, learning disability, truncal obesity

d) - Testosterone (low), FSH/LH (elevated)
- Chromosomal analysis
- Manage with testosterone replacement

Question 10

Growth charts

Answer 10

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