Clinical (Week 4 - Pituitary and Adrenal) Flashcards Preview

Year 2 - Endocrinology (DP) > Clinical (Week 4 - Pituitary and Adrenal) > Flashcards

Flashcards in Clinical (Week 4 - Pituitary and Adrenal) Deck (127):
1

What is the commonest childhood symptoms of new T1DM?

Secondary nocturnal enuresis

2

What is the commonest childhood symptoms of new T1DM?

Secondary nocturnal enuresis

3

The following features are typical of what in T1DM:
- Vomiting
- Abdominal pain
- Altered consciousness
- Acidotic breathing

DKA

4

What are the DKA guidelines for children under the age of 16?

Based on weight
Careful fluid resuscitation:
- Avoid cerebral oedema!
Insulin 1 hour after IV fluids

5

What are the HbA1c targets in children?

6

What early vascular changes are seen in kids with T1DM?

Microalbuminaemia
Autonomic neuropathy
Cheirarthropathy

7

What paediatric patients should be identified as high risk?

Those not seen for >6 months
High HbA1c
DKA admissions
Social work involvement

8

What are primary causes of congenital thyroid disease?

Dysplastic gland +/- abnormal site:
- eg. Sublingual
Inborn error of T3 and T4 metabolism

9

What are some secondary and tertiary causes of congenital thyroid disease?

Congenital pituitary disease
Hypopituitarism:
- GH deficiency
- ACTH deficiency
- Gonadotropin deficiency

10

Which of the following is not a feature of congenital thyroid disease:
- Jaundice on birth
- Poor feeding but increased 'normal' weight
- Hypotonia (Umbilical hernia + constipation)
- Skin and hair changes

Jaundice on birth:
- It is delayed with congenital disease

11

What screening test is done for congenital thyroid disease?

Guthrie test:
- Day 5
- Capillary blood spot -> Measure TSH +/or T4

12

When should children be treated for congenital thyroid disease?

Ideally by 2 weeks of age
Window can extend to 2-3 months old

13

What happens is a child with congenital thyroid disease aren't treated before 3 months of age?

Cretinism

14

What happens is a child with congenital thyroid disease aren't treated before 3 months of age?

Cretinism

15

The following features are typical of what in T1DM:
- Vomiting
- Abdominal pain
- Altered consciousness
- Acidotic breathing

DKA

16

What are the DKA guidelines for children under the age of 16?

Based on weight
Careful fluid resuscitation:
- Avoid cerebral oedema!
Insulin 1 hour after IV fluids

17

What are the HbA1c targets in children?

18

What early vascular changes are seen in kids with T1DM?

Microalbuminaemia
Autonomic neuropathy
Cheirarthropathy

19

What paediatric patients should be identified as high risk?

Those not seen for >6 months
High HbA1c
DKA admissions
Social work involvement

20

What can cause secondary adrenal underactivity in children?

Pituitary disease
Suppression secondary to high dose steroids

21

What are some secondary and tertiary causes of congenital thyroid disease?

Congenital pituitary disease
Hypopituitarism:
- GH deficiency
- ACTH deficiency
- Gonadotropin deficiency

22

Which of the following is not a feature of congenital thyroid disease:
- Jaundice on birth
- Poor feeding but increased 'normal' weight
- Hypotonia (Umbilical hernia + constipation)
- Skin and hair changes

Jaundice on birth:
- It is delayed with congenital disease

23

What screening test is done for congenital thyroid disease?

Guthrie test:
- Day 5
- Capillary blood spot -> Measure TSH +/or T4

24

When should children be treated for congenital thyroid disease?

Ideally by 2 weeks of age
Window can extend to 2-3 months old

25

How can ambiguous genitalia be diagnosed?

CAH/Steroid abnormalities
Gene/Chromosomal defects
Congenital defects

26

What happens is a child with congenital thyroid disease aren't treated before 3 months of age?

Cretinism

27

What can cause an acquired thyroid disease in the young?

Delayed congenital
Post-infection
Autoimmune
Iodine deficiency
T1DM

28

A 15 year old girl sees the GP wondering why she hasn't menstruated yet. She says she has generally been ill one and off for as long as she can remember and she struggles in school. On examination you note that she is not attaining the growth expected. On neck palpation you notice a swelling.

Hypothyroidism (Treat with T4 for life)

29

An 8 year old girl is brought to the GP as she has had her first menstrual cycle. The mother notes that her daughter was always difficult to get to sleep and has been very hyperactive. On examination her pulse is high and you note a swelling in her neck.

Hyperthyroidism

30

What is the initial therapy for hyperthyroidism in children?

β-blockers

31

What are the suppressant therapies for hyperthyroidism in children?

1st two years:
- Carbimazole
- +/- T4
Permanent cure:
- Radio-iodine
- Surgery

32

What can cause primary adrenal underactivity in children?

Adrenal hypoplasia:
- Absent/Destroyed
- Dysplastic
Inborn metabolic error
Congenital Adrenal Hyperplasia (ADH)

33

What can cause secondary adrenal underactivity in children?

Pituitary disease
Suppression secondary to high dose steroids

34

What is the pathological process behind congenital adrenal hyperplasia?

1) 21-hydroxylase deficiency
2) Reduced cortisol production
3) Increased ACTH production
4) Adrenal hyperplasia
5) Increased steroid precursors
6) Increased testosterone production
7) Foetal virilisation

35

What can result in the absence of cortisol and aldosterone?

Addisonian crisis:
- Hyponatraemia
- Hyperkalaemia
- Hypotension

36

What are the downsides to using the FRAX assessment of osteoporotic fracture risk?

Underestimates vertebral fracture risk
Dichotomised variables (Only yes/no):
- Smoking
- Alcohol
Lack of clarity

37

How does virilisation present in girls and boys?

Girls:
- Ambiguous genitalia
Boys:
- Precocious puberty

38

How can ambiguous genitalia be diagnosed?

CAH/Steroid abnormalities
Gene/Chromosomal defects
Congenital defects

39

What is osteoporosis characterised by?

Low bone mass
Microarchitectual deterioration of bone

40

What can osteoporosis result in?

Increased bone fragility
Susceptibility to fracture

41

How common is osteoporosis in people over 50 years of age?

1 in 2 women
1 in 6 men

42

True or false; Osteoporosis is symptomatic regardless of whether or not a fracture has occurred?

False:
- Only symptomatic if there is a fracture

43

Where are osteoporotic fractures common?

Neck of femur
Vertebral body
Distal radius
Humeral neck

44

Where does bone remodelling occur?

Bone remodelling units

45

What does bone remodelling contribute to?

Calcium homeostasis
Skeletal repair

46

What are the steps in bone remodelling?

1. Osteoclasts appear at inactive surfaces
-> Resorb bone
2. Osteoblasts fill cavity by putting down osteoid
-> Mineralised to new bone
3. Normally the cavity is totally filled

47

What happens to bone remodelling in osteoporosis?

Relative/Absolute increase in resorption over formation:
-> Bone loss

48

Which of the following is not a negative risk factor for osteoporotic fractures:
- Smoking
- Alcohol
- Obesity
- Bone mineral density
- Older people
- Females
- Previous fracture
- Family history

Obesity:
- Underweight people are at a greater risk of #

49

How should a patient, who is at risk of an osteoporotic fracture, alter their diet?

Make sure they are eating:
- 700mg calcium daily
- If post-menopausal -> 1000mg calcium daily

50

What is the main downside to the use of the QFracture tool?

Doesn't allow an input of BMD

51

Who should be assessed with either FRAX or QFracture?

People aged >50 with risk factors
People aged

52

When should a patient be referred for a DEXA scan?

If >10% risk of osteoporotic fracture in the neck 10 years

53

What is a normal DEXA result?

BMD within one standard deviation of young adult mean

54

What is osteopenia defined as?

BMD >1 standard deviation below the young adult mean
BUT

55

What is osteoporosis defined as?

BMD >2.5 standard deviations below the young adult mean

56

What is severe osteoporosis defined as?

Osteoporosis with a fragility fracture

57

What should be measured if the patient is younger than 20?

Only the Z score

58

What are some secondary endocrine causes of osteoporosis?

Hyperthyroidism
Hyperparathyroidism
Cushing's

59

What are some secondary GI causes of osteoporosis?

Coeliac disease
IBD
Chronic liver disease/Pancreatitis

60

What is a potential side effect of Zoledronic acid use?

1 in 3 have an acute phase reaction:
- Give paracetamol

61

What lifestyle management can help prevent osteoporotic fractures?

Strength training
Weight bearing:
- Low impact
Avoidance of:
- Smoking
- Alcohol

62

How should a patient, who is at risk of an osteoporotic fracture, alter their diet?

Make sure they are eating:
- 700mg calcium daily
- If post-menopausal -> 1000mg calcium daily

63

What is the first line treatment for osteoporosis?

Bisphosphonates (Alendronic Acid):
- With calcium and Vit. D supplements

64

What is the second line treatment for osteoporosis and when is it used?

Zolendronic Acid IV
OR
Denosumab (Monoclonal Ab):
- With calcium and Vit. D supplements
- Used when:
> Intolerant to bisphosphonates
> Contraindications to bisphosphonates

65

What is the third line treatment for osteoporosis?

Strontium ranelate:
- With calcium and Vit. D supplements

66

What is the fourth line treatment for osteoporosis?

Teriparatide (Recombinant PTH)

67

How do bisphosphonates work?

Antiresorptive:
- Reduce osteoclast activity

68

How does teriparatide work?

Increases bone growth (Anabolic)

69

What are bisphosphonates?

Pyrophosphate analogues:
- Adsorb onto bone within matrix
- Lead to osteoclast death

70

When should antiresorptive treatment be commenced?

When T score 7.5mg prednisolone for >3 months
- If vertebral fracture

71

What are some long term side effects of bisphosphonates?

Jaw osteonecrosis
Oesophageal cancer
Atypical fractures

72

How is Zoledronic acid administered to patients?

Once yearly IV infusion for 3 years:
- 5mg in 100ml NaCl over 15 minutes

73

What is a potential side effect of Zoledronic acid use?

1 in 3 have an acute phase reaction:
- Give paracetamol

74

How does Denosumab work?

Targets and binds to the Receptor Activator of Nuclear Factor - kB Ligand (RANKL) with high affinity:
- Prevents RANK activation
> Inhibits osteoclast development + activity

75

How is Denosumab administered?

S/C injection every 6 months

76

What are side effects of Denosumab?

Hypocalcaemia
Eczema
Cellulitis

77

What osteoporosis treatment is contraindicated in severe renal disease?

Strontium ranelate

78

How does strontium ranelate work?

Antiresorptive

79

What are most cases of osteogenesis imperfecta secondary to?

Mutations in type 1 collagen genes:
- COL1A1
- COL1A2

80

Which of the following is not a contraindication of strontium ranelate use:
- Thromboembolic disease
- IHD
- PAD
- CHF
- Uncontrolled hypertension

CHF

81

How does teriparatide work?

Increases bone growth (Anabolic)

82

What criteria must be met before teriparatide can be prescribed?

>65 years old with T score 65 years old with T score -3.5:
- With 2 fractures
55-64 years old with T score -4:
- >2 fractures
- Intolerance to oral agents

83

When should antiresorptive treatment be commenced?

When T score 7.5mg prednisolone for >3 months
- If vertebral fracture

84

What direct effects do corticosteroids have on bones?

Decrease osteoblast activit + lifespan
Reduce replication of osteoblast precursors
Reduce calcium absorption

85

What happens in Paget's Disease?

Abnormal osteoclast activity and increased osteoblast activity:
- Reduced bone strength
- Increased fracture risk

86

What bones does Paget's Disease affect?

Long bones
Pelvis
Lumbar spine
Skull

87

How does Paget's disease present?

Bone pain and deformity
Deafness (Conductive)
Compression neuropathy -> Vision loss

88

What role does UVB have on vitamin D metabolism?

Converts Dehydro-cholesterol to Cholecalciferol (D3)

89

How is Paget's disease diagnosed?

X-Ray
Isotope bone scan
Raised ALP (Normal FLTs)

90

What levels of the following are seen in Paget's disease:
- Calcium
- Phosphate
- ALP
- PTH

All normal except ALP which is elevated

91

How is Paget's disease treated?

Analgesia
Bisphosphonates if analgesia doesn't reduce pain

92

What are some signs of hypocalcaemia?

Chovstek's sign:
- Tap over CN vii
Trousseau sign:
- Carpopedal spasm
ECG:
- QT prolongation

93

What is the mode of inheritance of most cases of osteogensis imperfecta?

Autosomal dominant

94

What is the most mild type of osteogenesis imperfecta and when does it present?

Type i
Presents in adults

95

What are the two very severe types of osteogenesis imperfecta and how do they present?

Types iii and iv
Present as multiple fractures in childhood

96

How does type ii osteogenesis imperfecta present?

It is neonatally lethal

97

What is osteogenesis imperfecta associated with?

Blue sclerae
Dentinogenesis imperfecta

98

How is osteogenesis imperfecta treated?

Fracture fixation
Correction of deformities
Bisphosphonates

99

How is hypoparathyroidism managed long term?

Calcium supplements:
- >1-2g/day
Vitamin D tablets:
- 1α calcidol 0.5-1μg
Vitamin D injection:
- Cholecalciferol 300,000 units every 6 months

100

How can hypomagnesaemia cause hypoparathyroidism?

Calcium release from cells depends on magnesium
Magnesium deficiency:
- Increased intracellular calcium concentration
> PTH release inhibited

101

What role does UVB have on vitamin D metabolism?

Converts Dehydro-cholesterol to Cholecalciferol (D3)

102

What role does the liver play in vitamin D metabolism?

Converts cholecalciferol to 25-OH Vitamin D

103

What role does the kidney play in Vitamin D metabolism?

Converts 25-OH Vitamin D to 1,25-OH Vitamin D

104

What are some symptoms of hypocalcaemia?

Paraesthesia:
- Fingers
- Toes
- Perioral
Tetany and cramps
Muscle weakness
Fatigue
Broncho-/Laryngospasm
Fits

105

What are some signs of hypocalcaemia?

Chovstek's sign:
- Tap over CN vii
Trousseau sign:
- Carpopedal spasm
ECG:
- QT prolongation

106

What are the common causes of hypocalcaemia?

Hypoparathyroidism
Vitamin D deficiency:
- Osteomalacia
- Rickets
Chronic renal failure

107

What drugs can cause rickets and osteomalacia?

Anticonvulsants

108

How is acute hypocalcaemia treated?

IV calcium gluconate:
- 10ml, 10% over 10 minutes
- In 50ml saline or dextrose

109

What is the congenital absence of hypoparathyroidism associated with?

DiGeorge Syndrome

110

How can the parathyroid gland be destroyed?

Surgery
Radiotherapy
Malignancy

111

What are some other causes of hypoparathyroidism (apart from destruction and congenital absence)?

Autoimmune
Hypomagnesaemia
Idiopathic

112

How is hypoparathyroidism managed long term?

Calcium supplements:
- >1-2g/day
Vitamin D tablets:
- 1α calcidol 0.5-1μg
Vitamin D injection:
- Cholecalciferol 300,000 units every 6 months

113

How can hypomagnesaemia cause hypoparathyroidism?

Calcium release from cells depends on magnesium
Magnesium deficiency:
- Increased intracellular calcium concentration
> PTH release inhibited

114

What can cause hypomagnesaemia?

Alcohol
Drugs:
- Thiazides
- PPIs
GI Illness
Pancreatitis
Malabsorption

115

What causes pseudohypoparathyroidism?

Genetic defect:
- GS-α subunit dysfunction
- GNAS1 gene

116

What biochemistry is seen in pseudohypoparathyroidism?

Low calcium
High PTH

117

What happens in pseudohypoparathyroidism?

There is PTH resistance

118

What are some long-term effects of pseudohypoparathyroidism?

Bone abnormalities:
- McCune-Albright Syndrome
Obesity
S/C calcification
Leaning disability
Brachdactyly:
- Short 4th metacarpal

119

What is pseudopseudohypoparathyroidism?

All features of pseudohypoparathyroidism
BUT normal calcium

120

What drugs can cause rickets and osteomalacia?

Anticonvulsants

121

What are the biochemical findings in osteomalacia?

Reduced:
- Calcium
- Phosphate
- 25-OH Vitamin D
Increased:
- ALP
- PTH

122

What are some clinical signs of osteomalacia?

Muscle wasting -> Proximal myopathy (waddling gait)
Dental defects:
- Caries
- Enamel
Bone:
- Tenderness
- Fractures
- Rib and limb deformities
- Looser's zones
> Pseudofractures -> Transverse lucencies

123

What are the consequences of vitamin D deficiency?

Bone disease:
- Demineralisation -> Fractures
- Osteomalacia/Rickets
Malignancy -> Espeically colon
Heart disease
DM

124

How is vitamin D deficiency treated?

Vitamin D:
- D3 tablets (400-800IU/day)
> Load with 3200IU/day for 12 weeks
- Calcitriol
- Alfacalcidol
Combined Calcium + Vitamin D -> Adcal D3

125

What cause Vitamin D-Resistant Rickets?

An X-linked hypophosphataemia:
- PHEX gene mutation

126

How is Vitamin D-Resistant Rickets treated?

Phosphate and Vitamin D supplements
+/- Surgery

127

What is the biochemistry likely to be in Familial Hypocalciuric Hypercalcaemia?

Raised Calcium
Raised/Normal PTH
Normal ALP
Normal Phosphate