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Paediatrics > Endocrinology > Flashcards

Endocrinology Flashcards

1
Q

Why may congenital hypothyroidism occur

A

defects in the
- pituitary gland - tumours/ischaemia
- thyroid gland (most common) & NOT inherited
- thyroid hormones themselves Inherited
Can be transient if mum has taken carbimazole or has antibodies

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2
Q

Symptoms of hypothyroidism

A 
Feeding difficulties
Somnolence
Lethargy
Low frequency of crying
Constipation
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3
Q

Signs of hypothyroidism

A
  • constipation
  • fatigue
  • delayed bone age
  • myxoedema
  • macroglossia
  • hypotonia
  • prolongation of physiological jaundice
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4
Q

What investigations would suggest a diagnosis of hyothyroidism

A
  • high TSH
  • low T4
  • measure auto-antibodies
  • may require US scan of thyroid
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5
Q

What is the management of hypothyroidism

A
  • levothyroxine (if TFTS persist >2w)
  • regular TFTS (can decrease after first 2yrs)
  • Aim T4 in upper normal range
  • growth charts
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6
Q

What is the prognosis of hypothryoidism

A

IF early treatment, normal mental development will occur

if delayed spasticity, gait problems and dysarthria and profound mental disability

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7
Q

What is the most common cause of acquired hypothyroidism

A

Hashimoto’s autoimmune thyroiditis

  • usually adolescence
  • asoc. with down and turner syndrome
  • delays puberty
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8
Q

When may zinc deficiency occur

A
  • premature infats (MAde weeks 20-40)
  • no small intestine (60-80% absorbed)
  • breast fed babies who’s glands don’t secrete zinc
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9
Q

Clinical features of zinc deficiency

A
  • decreased growth
  • stomatatis
  • glossitis
  • scaley macular/papulur acro-orofacial rash
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10
Q

Which factors are vitamin K dependent

A

2, 7, 9 10

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11
Q

What is haemorrhagic disease of the newborn

A

deficiency in vitamin K dependent factors

commoner in pretrm babies as livers are not fully developed

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12
Q

What are the features of haemorrhagic disease of the newborn

A

intra-cranial haemorrhage
epistaxis
GI bleeding
often solely breast fed

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13
Q

How do you prevent haemorrhagic disease of the newborn

A

1mg vit K IM at birth

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14
Q

What would you expect to see on blood tests of Kellmans syndrome

A

hypogonadothropic hypogonadism

  • low serum testosterone
  • low LH
  • low FSH
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15
Q

What is the presentation of Kellmans syndrome

A 
Absent/delayed puberty
Reduced smell
cryptoorchidism
micro penis
synkinesia (mirror movements)
cleft lip/palette
hearing loss
dental agenesis
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16
Q

what would you expect to see on bloods in Kleinfelters syndrome

A

Low testosterone

High FSH + LH

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17
Q

What may present as hypogonadotropic hypogonadism

A

kellmans syndrome
kleinfelters syndrome
craniophyrigioma
optic glioma

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18
Q

Who should recieve fluid bolus’ in DKA in children

A

Only give a bolus if they are shocked

  • tachycardic
  • low BP
  • cap refil (may represent vasoconstriction if v. low pH)
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19
Q

What is Kussmals breathing

A

laboured breathing with the aim of CO2 and ultimately raising the pH

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20
Q

Over what time period do you fluid correct some in dka

A

48 hrs

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21
Q

How long should you rehydrate someone before starting insulin therapy

A

1-2 hours - some studies suggest increased risk of cerebral oedema if done earlier

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22
Q

What are signs and symptoms of cerebral oedema

A 
altered conciousness
headache
agitation
high BP
unequal pupils
abnormal posturing
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23
Q

What is the mortality of cerebral odema

A

25%

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24
Q

What are the risk factors for developing cerebral odema

A
  • > 40ml/kg of fluid bolus’
  • low CO2
  • younger age
  • hyperventilation with intubation
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25
Q

What is the management of cerebral odema

A
  • early intensive care involvement

- 3%hypertonic saline or 20% mannitol

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26
Q

What is diabetes mellitus

A

group of metabolic diseases characterised by chronic hyperglycaemia resylting from defects in insulin secretion, insulin action, or both.

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27
Q

What is T1 diabetes

A
  • autoimmune T cell mediated pancreatic islet cell destruction
  • Antibodies to islet cells (ICA) (IAA) and insulin are found in 80-90% of people
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28
Q

Inheritence of which antigens increase the risk of diabetes by 10-15 fold

A

DR3 & DR4

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29
Q

What are the risk factors of T2DM in children

A

Symptoms occur in association with:

  • overweight/obesity
  • > 10 YO
  • Strong FH
  • acanthosis nigricans
  • undetectable islet auto-Ab
  • elevated C peptide
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30
Q

What is the management of T2DM in children

A

metformin

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31
Q

What is monogenic diabetes (maturity onset diabetes of the young)

A
  • autosomal dominant

- mutation in HNF gene (hfn1a)

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32
Q

What are the features of monogenic diabetes (maturity onset diabetes of the young)

A
  • Young age of onset
  • strong FH of diabetes
  • low insulin requirements in non-obese children
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33
Q

What are the investigations for monogenic diabetes (maturity onset diabetes of the young)

A

Urine C peptide createnine ratio

genetic testing - confirmation

34
Q

What is the management of HNF1-A MODY and HNF4-A MODY

A

sulfonylurea (glibenclamide/gliclazide)

35
Q

What is the management of MODY with mutation of GCK gene

A
  • causes very mild hyperglycaemia and does not need treatment
36
Q

What complication is associated with HNF1-B MODY

A

renal cysts

37
Q

Diagnosis of DM

A
  • Sx + random glucose >11.1
  • Fasting lasma glucose >7
  • 2 hr post-load glucose >11.1
38
Q

What are the 4 insulin regimes

A
  1. 2x premixed (short and intermiediate)
  2. 3x premixed (short and long)
  3. Basal-bolus (long BD and short with meals)
  4. Insulin pump therapy - rapid acting to stabelise variation in sugar with activity and food intake
39
Q

What is the current targey HbA1C

A

48

40
Q

What complications/conditions are associated with T1DM

A
  • coeliacs disease
  • thyroid disease
  • retinopathy
  • microalbuminaemia
  • BP
41
Q

When should coeliacs disease be screened for in the context of diabetes

A

at diagnosis

42
Q

When should thyroid disease be screened for in the context of diabetes

A

at diagnosis

annually

43
Q

When should retinopathy, microalbuminaemia and BP be screened for in the context of diabetes

A

Annualy after the age of 12

44
Q

What is the commonest complication of T1DM

A

hypoglycaemia

45
Q

What is considered hypoglycaemia

A

<3.9

46
Q

symptoms of hypoglycaemia

A 
headache
dizziness
nausea
blurred vision
trembling
seizures 
coma
47
Q

Management of mild to moderate hypoglycaemia

A
  1. glucose tablets/glucogel or juice

2. slow acting carbs

48
Q

Management of severe hypoglycaemia

A
  • glucagon injection 0.5mg <8 yo or body weight <25kg
  • glucagon inject 1mg if >8yo or body weight >25kg
  • subcut or IM
49
Q

causes of hypoglycaemia

A
  • excessive bolus insulin dose
  • target levels set too low by doctor
  • illness
  • exercise without extra carb or reduced bolus/basal insulin
  • delayed effect of exercise
  • alcohol
    gastroparesis
  • basal insulin too high
  • infrequent blood glucose monitoring
50
Q

What findings indicate acidosis on a gas

A

pH <7.3

Bicarb <15

51
Q

In a shocked patient with DKa what fluid bolus do you give

A

20ml/kg over 15 mins

52
Q

In a non shocked patient in DKA but it’s felt that IVF is required what dose do you give

A

10ml/kg over 60 mins

53
Q

over how long do you relplace fluid deficit in a patient with DKA

A

48 hours

54
Q

What are the typical suggested rates of insulin in DKA

A

0.05 Units/kg/hr and 0.1 Units/kg/hr

55
Q

How does primary hypothyroidism present

A 
fatigue
attenuated growth
cold intolerance
constipation
declining school performation
dry skin
coarse hair 
goitre
56
Q

What investigations should you do if ? primary hypothyroidism

A
  • Free T4 - LOW

- TSH - HIGH

57
Q

How does secondary hypothyroidism present

A 
Fatigue
Poor growth
cold intolerance
constipation
dry skin 
coarse hair
58
Q

What investigations should you do if ? secondary hypothyroidism

A

T4 - LOW

TSH - Low or normal

59
Q

Features of cushing’s syndrome

A 
attenuated growth
violacesous striae
buffalo hump
central adiposity
moon face
hirstutism
hypertension
diabetes
60
Q

investigations for Cushings

A

elevated 24hr urinary free cortisol is elevated

61
Q

Features of Prader Willi syndrome

A 
short stature
small hands and feet
almond shaped eyes
picking on skin
delayed pubery
developmental delay
hyperphagia
poor feeding and hypotonia as an infant
62
Q

investigations Prader-Willi

A

imprinting error on Cr 15

63
Q

Features of Bardet-Biedl

A 
dysmorphic extremeties
retinitis pigmentosa
developmental delay
hypogonadism
renal defects
64
Q

Features of anorexia that require medical management and admission

A 
BMI <13
HR <40
Hypokalaemia <3.0
Hyponatraemia <130
QTC >450
core temp <35
65
Q

Features of Batters syndrome

A 
renal channelopathy:
- hypochloraemic metabolic alkalosis
- hyponatraemia
- hypokalaemia
presents similar to CAH
66
Q

Features of Liddles syndrome

A

rare primary renal channelopthy

  • HTN
  • metabolic alkalosis
  • hypokalaemia
  • hyponatraemia
  • presents in late childhood or adulthood
67
Q

What defect is seen in Batters syndrome

A

loos of function in Na-K-Cl co transporter of the thick ascending limb of the loop of henla

68
Q

WHat defect is seen in Liddles syndrome

A

gain of function in epithelial sodium channel in renal collecting tubule

69
Q

What features would you see in bilateral adrenal hyperplasia or primry hyperaldosteronism (Conn syndrome)

A

hypokalaemia

normal/high sodium

70
Q

What defect is seen in bilateral adrenal hyperplasia or primary hyperaldosteronism (Conn syndrome)

A

gain of function in KCNJ5 in adrenal gland

71
Q

Features of Gitelman syndrome

A

renal channelopathy

  • hypokalaemia
  • hyponatraemia metabolic alkalosis
  • hypocalcuria
72
Q

Presenting features of addisons disease

A 
fatigue/lethargy
myalgia
GI symptoms
hyperpigmentation
- assoc with other autoimmune conditions
73
Q

Blood work of addisions

A
  • hypoglycaemia if in crisis
  • high renin
  • hyponatraemia
  • hypokalaemia
74
Q

Presentation 21-hydroxylase deficiency

A

salt losing crisis
premature isosexual development
hypertension (11b hydroxylase deficiency)
virilisation of girls

75
Q

What is isosexual development

A

small testes
large penis
large scrotum

76
Q

What is virilization

A

development of male physical features e.g. increased muscle bulk, body hair and deep voice in females or precociously in male

77
Q

What is the management of CAH

A

hydrocortisone for corticosteroid replacement

fludrocortisone for mineralocorticoid replacement

78
Q

inheritance pattern in CAH

A

autosomal recessive

79
Q

findings for CAH - 21-hydroxylase deficiency

A

raised serum 17 hydroxyprogesterone

raised urinary pregnantriol

80
Q

findings for CAH - 11b hydroxylase deficiency

A

raised serum 11deoxycortisol and 11 deoxycorticosterone.

Paediatrics (21 decks)

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