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Year 5 - Paediatrics > Paeds ENDO > Flashcards

Paeds ENDO Flashcards

1
Q

What is the most common cause of CAH?

A

21-hydroxylase deficiency

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2
Q

Recall the signs and symptoms of CAH

A

Virilisation of external genitalia
Salt-losing crisis
Tall stature

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3
Q

What is the best initial investigation to do when there are ambiguous genitalia?

A

USS

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4
Q

What is the confirmatory investigation used to diagnose CAH?

A

Raised plasma 17-alpha-hydroxyprogesterone
Can’t do in a newborn

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5
Q

What sodium and potassium levels are seen in a salt losing crisis?

A

Hyponatraemia
Hyperkalaemia

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6
Q

What is the surgical management option for CAH?

A

For girls there is corrective surgery at early puberty to make the genitalia look more female

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7
Q

What is the medical management for CAH?

A

Lifelong hydrocortisone + fludrocortisone

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8
Q

How should a salt-losing crisis be managed?

A

IV hydrocortisone
IV saline
IV dextrose

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9
Q

What is the ‘classical triad’ of symptoms in DM?

A

Polydipsia
Polyuria
Weight loss

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10
Q

Recall the diagnostic criteria for DM

A
  1. Sx + fasting >7 OR random >11.1
  2. No Sx + fasting >7 AND random >11.1
  3. No Sx + OGTT >11.1
  4. HbA1c > 6.5%
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11
Q

What OGTT result is considered ‘impaired’ glucose tolerance?

A

7.8 - 11.1

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12
Q

What fasting glucose result is considered ‘impaired’ glucose tolerance?

A

6.1-7.0

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13
Q

Recall the 1st and 2nd line options for insulin therapy

A

1st line = multiple daily injection basal-bolus: injections of short-acting insulin before meals, with 1 or more separate daily injections of intermediate acting insulin or long acting insulin analogue

2nd line = continuous SC insulin infusion (pump)

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14
Q

Recall the names of 2 types of long acting insulin

A

Glargine
Determir

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15
Q

Recall the names of 3 types of short acting insulin

A

Lispro
Apart
Glulisine

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16
Q

Why should site of SC insulin injection be regularly rotated in T1DM?

A

Avoidance of lipohypertrophy

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17
Q

What should cap glucose be when fasting and after meals?

A

Fasting: 4-7

After meals: 5-9

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18
Q

When does annual monitoring for retinopathy/ nephropathy/ neuropathy begin?

A

12 years

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19
Q

How is DKA managed?

A
  1. Replace fluids: deficit + maintenance requirement
    Deficit volume = weight in kg x 10 x 5% for mild-mod DKA, or 10% for severe DKA
    Maintenance volume = LOWER for DKA, due to risk of cerebral oedema
    <10kg = 2mls/kg/hr
    10-40kg = 1ml/kg/hr
    40+kg = 40mls/hr
  2. After 1-2 hours, start insulin therapy - infuse at 0.05-0.1 units/kg/hour
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20
Q

What are the symptoms of HHS?

A

Weakness, leg cramps, visual disturbances
N+V
MASSIVE DEHYDRATION
Focal neurology

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21
Q

What is the best option for oral monotherapy in T2DM?

A

Metformin (biguanide)

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22
Q

What medications can be added for tx-resistant T2DM?

A

Sulphonylureas (eg glibenclamide)
Alpha-glucosidase inhibitors (eg acarbose)

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23
Q

Recall the 2 possible biochemical definitions of DKA

A
  1. Acidosis + bicarb <15
  2. pH <7.3 + ketones >3
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24
Q

How is DKA biochemically classified as mild/ mod/ severe?

A

Mild = pH <7.3, mod = <7.2. sev = <7.1

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25
Q

Recall the volume of fluid resus needed in a DKA emergency?

A

If shocked: 20mls/kg bolus over 15 mins

If not shocked: 10mls/kg bolus over 60 mins

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26
Q

How should fluids be replaced following the initial emergency in DKA?

A

Fluid deficit = 5% if mild-mod DKA, 10% if severe DKA
Deficit volume = weight x 10 x deficit%

Fluid maintenance in DKA specifically:
<10kg: 2mls/kg/hour
10-40kg: 1ml/kg/hour
40+kg: 40mls/kg/hour

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27
Q

What is the maintenance requirement of fluids in non-DKA situations?

A

First 10kg = 100mls/kg/day (4mls/kg/hour)

Next 10kg = +50mls/kg/day (2mls/kg/hour)

Every kg above 20kg = +20mls/kg/day (1ml/kg/hour)

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28
Q

Recall the % fluid deficit that correlates to each severity of DKA

A

Mild = 5%
Mod = 7%
Sev = 10%

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29
Q

Calculate the fluid requirement of a 20kg boy in DKA, with pH 7.15, who has already received a 10ml/kg bolus (200ml) over 60 mins

A

Calculation: (deficit x weight x 10) - initial, “shocked” bolus over 48 hours

Deficit if pH = 7.15 = 5% (7 x 20 x 10) = 1000
Initial bolus - 200: 1400-200 = 1200 over 48 hours
1200/48 = 25mls/ hour
Maintenance = (10 x 100) + (10 x 50) = 1500mls over 24 hours

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30
Q

When should insulin therapy be started in DKA?

A

After 1-2 hours of IV fluid replacement

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31
Q

How should insulin dose be calculated?

A

0.05-0.1 units/ kg/ hour

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32
Q

When should dextrose therapy be started in DKA?

A

When glucose is <14mmol/L

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33
Q

Recall 2 important possible complications of DKA with their symptoms

A

Cerebral odoema: Cushing’s triad of raised ICP (bradycarida, HTN, irregular breathing)

Hypokalaemia (typically asymptomatic)

34
Q

What is the most common cause of delayed puberty in boys?

A

CDGP (constitutional delay of growth + puberty)

35
Q

Recall the parameters for referral in growth restriction

A

If >75th centile, only refer once it drops by >=3 centiles

If 25th-75th centile, only refer once it drops by >=2 centiles

If <25th centile, refer once centile drops by >=1 centiles

36
Q

What is the definition of delayed puberty in males and females?

A

Males: no testicular development (<4mL) by age of 14 years

Females: no breast development by age 13 years or no period by age 15

37
Q

Recall 3 causes of Constitutional Delay of Growth and Puberty

A

Chronic disease
Malnutrition
Psychiatric (eg depression/ AN)

38
Q

Recall some causes of hypogonadotrophic hypogonadism

A

Hypothalamopituitary disorders: panhypopituitarism, intercranial tumours
Kallman’s syndrome, PWS
Hypothyroidism (acquired)

39
Q

Recall some causes of hypergonadotrophic hypogonadism (high LH ad FSH)

A

Congenital: cryptochidism (absence of 1 or both testes from scrotum), Kleinfelter’s, Turner’s

Acquired: testicular torsion, chemotherapy, infection, trauma, AI

40
Q

How can delayed puberty be staged in boys vs girls?

A

Boys: Prader’s orchidometer
Girls: Tanner’s staging

41
Q

What non-gonadotrophin hormones are important to measure as part of initial investigation of delayed puberty?

A

TSH
Prolactin

42
Q

Recall 2 important imaging tests that may be done in investigation of delayed puberty?

A

Bone age (from wrist x ray)
MRI brain

43
Q

How should CDGP be managed?

A

1st line: reassure + offer observation: fantastic prognosis

2nd line: short course of sex hormone therapy
Boys: IM testosterone (every 6 weeks for 6 months)
Girls: transdermal oestrogen (6 months) + cyclical progesterone once established

44
Q

How should primary testicular/ ovarian failure be treated?

A

Boys: regular testosterone injections
Girls: oestrogen replacement gradually

45
Q

What are the age parameters for ‘early normal’ vs precocious puberty?

A

Early normal: girls = 8-10, boys = 9-12

Precocious: girls = <8, boys = <9

46
Q

What are the different causes of gonadotrophin-dependent vs gonadotrophin-independent precocious puberty?

A

Gonadtrophin-DEPENDENT: often idiopathic, but may be due to CNS tumours

Gonadotrophin-INDEPENDENT: gonadal activation independent of HPG: may be due to ovarian (folllicular cyst, granuloma cell tumour, Leydig cell tumour, gonadoblastoma), or testicular pathology

47
Q

What is premature thelarce?

A

Isolated breast development before 8 years

48
Q

What does BL enlargement of the testicles indicate before puberty?

A

Gonadotrophin-dependent precocious puberty (intercranial lesion, ie optic glioma in NF1)

49
Q

What does UL enlargement of a testicle indicate pre-puberty?

A

Gonadal tumour

50
Q

What does small testes and precocious puberty indicate?

A

Tumour of CAH (adrenal cause)

51
Q

What is the gold standard investigation for precocious puberty?

A

GnRH stimulation test

52
Q

If CAH is suspected, what test should be done?

A

Urinary 17-OH progesterone

53
Q

What is the medical treatment for precocious puberty?

A

GnRH agonist + GH therapy if gonadotrophin-dependent

If gonadotrophin-independent:
Testotoxicosis: ketoconazole/ cyproterone
CAH: hydrocortisone + GnRH agonist

54
Q

What are the 2 most common causes of dwarfism?

A

Achondroplasia

Hypochondroplasia

55
Q

What is the phenotype of achondroplasia?

A

Arms + legs short
Normal length thorax

56
Q

What is the phenotype of hypochondroplasia

A

Small stature
Micromelia (small extremities)
Large head

57
Q

What gene mutation is associated with achondroplasia and hypochondroplasia?

A

FGFR3
Autosomal dominant mutation

58
Q

Recall some signs and symptoms of osteogenesis imperfecta

A

Blue sclera
Short stature
Loose joints
Hearing loss
Breathing problems

59
Q

Other than short stature, what are the symptoms of achondroplasia?

A

Hydrocephalus
Depression of nasal bridge
Marked lumbar lordosis
Trident hands

60
Q

What X ray findings may be present in achondroplasia?

A

Chevron deformity: metaphyseal irregularity

Flaring in long bones

61
Q

Recall 4 possible causes of cogenital hypothyroidism, and whether they are inherited or not

A

Thyroid gland defects (eg missing, ectopic): not inherited

Disorder of thyroid hormone metabolism: inherited

Hypothalamopituitary dysfunction (eg tumours, ischaemic damage): not inherited

Transient hypothyroidism (eg due to maternal carbimazole or Hashimotos, not inherited)

62
Q

Recall some signs and symptoms of congenital hypothyroidism including 3 unique symptoms

A

Unique: coarse features, macroglossia, umbilical hernia

Others: large fontanelles, low temp, jaundice, hypotonia, pleural effusion, short stature, oedema, etc

63
Q

How should congenital hypothyroidism be investigated and treated in an infant?

A

Pretty much the same as an adult

64
Q

What is the most common cause of acquired primary hypothyroidism?

A

Hashimoto’s AI thyroiditis

65
Q

Recall 2 genetic risk factors for hashimoto’s thyroiditis?

A

Down’s
Turner’s

66
Q

What is the prognosis of growth for children with primary hypothyroidism?

A

They can catch up

67
Q

What are the signs and symptoms of hyperthyroidism in the foetus?

A

High CTG trace
Foetal goitre on USS

68
Q

What are the signs and symptoms of hyperthyroidism in the neonate?

A

Same as adult

69
Q

What is the medical management of hyperthyroidism?

A

Carbimazole/ propothiouracil for 2 years

70
Q

What non-medical management options are there for hyperthyroidism in children?

A

Radioiodine tx
Surgery

71
Q

How is severe obesity, obesity and overweightness defined in children?

A

Severely obese: 99th centile
Obese: >95th centile
Overweight: 85th-94th centile

72
Q

What causes impaired skeletal growth in rickets?

A

Inadequate mineralisation of bone laid down at the epiphyseal growth plates

73
Q

Recall 3 deficiencies that can cause rickets?

A

Calcium
Vit D
Phosphate

74
Q

What will an x ray show in Rickets?

A

Thickened + widened epiphysis
Cupping metaphysis
Bowing diaphysis

75
Q

What will be the biochemical picture in rickets?

A

Reduced calcium + phosphate
Raised

Diagnostic = calcium x phosphate <2.4

76
Q

How can rickets be treated?

A

Calcium supplements
Oral vitamin D2

77
Q

What is Gaucher’s disease?

A

A rare inherited, metabolic disorder of lysosomal storage that results in the accumulation of harmful quantities of certain lipids throughout the body especially within the bone marrow, spleen and liver.

78
Q

What is the specific harmful lipid that builds up in Gaucher’s disease?

A

Glycolipid glucocerebroside

79
Q

What enzyme is deficient in Gaucher’s disease?

A

Glucocerebrosidase

80
Q

Which community of people is Gaucher’s disease particularly affected by?

A

Ashkenazi Jews

81
Q

What is GABA transaminase deficiency?

A

A rare, autosomal recessive inherited disorder that causes a reduction in GABA transaminase enzyme in the brain.

82
Q

What is the pathophysiology of GABA transaminase deficiency?

A

Reduction of GABA transaminase –> reduced breakdown of GABA in the brain –> psychomotor retardation (a slowing down of thought and activity) and seizures

Year 5 - Paediatrics (15 decks)

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