MRCP Endo Flashcards

1
Q

What does

1) high TSH + low T4

2) high TSH + normal T4

3) low TSH + normal T4

mean?

A

1) Hypothyroidism
2) Subclinical hypothyroidism
3) Subclinical hyperthryroidism

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2
Q

What is the screening and diagnostic investigation for acromegaly?

A

First: IGF-1 level (Screening)

Proceed to diagnose:
Glucose tolerance test including Growth hormone measurement

= failure to suppress growth hormone from glucose challenge

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3
Q

What is the mechanism of action of Octreaotide for acromegaly?

A

stimulate somatostatin receptor -> inhibit GH

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4
Q

What kind of drug is cabergoline for prolactinoma?

A

Dopamine agonist

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5
Q

Outline management for diabetes

A

Initial: lifestyle

First: metformin (biguanide)

Second dual therapy if HbA1c >58:
- Pioglitazone (PPAR-y activator- fat metab)
- Gliclazide (sulfonyurea) - weight gain
- Sintagliptin (DPP4i) - weight loss
- Dapagliflozin (SGLT2i)- uti/dka

  • GLP1 analogue if BMI >35 and triple therapy fail (liraglutide)
  • Insulin (weight gain)
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6
Q

What is the diagnosis of diabetes?

A
  1. Hba1c >48 (x2 if asymptomatic)
  2. Fasting glucose >7
  3. Impaired glucose tolerance
    - 2hr post OGTT 7.8-11.1
  4. Impaired fasting glucose
    - 5.6- 7
  5. Random glucose >11.1 (2hrs after meal)
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7
Q

Outline conditions associated with MEN 1, 2a, 2b:

A

MEN 1: menin gene (3P)
Primary hyperparathyroidism (hyperplasia not adenoma)
Pancreatic cancer (gastrinoma/insulinoma/glucagonoma/VIPoma)
Pituitary adenoma

MEN 2a: RET gene (MPH)
Medullary thyroid carcinoma (calcitonin)
Phaeochromocytoma
Hyperparathyroidism

MEN 2b: (MAP)
Medullary thyroid cancer
Adrenal tumour (cushing)
Phaeochromocytoma (marfinoid habitus)

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8
Q

What is the treatment for phaeochromocytoma?

A

First: alpha block
Second: beta block

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9
Q

Outline screening methods for people with MEN2:

A

Imaging:
screen for medullary thyroid carcinoma (US and calcitonin) -> IV pentagastrin test if screening normal

24hr urinary/plasma metanephrine for phaeo

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10
Q

What test should be done in patients with high risk GDM?

A

75g, 2hr OGTT early

Note: usually at 24-28 weeks screening.

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11
Q

What is Bartter syndrome and how does it present?

A

Defective chloride absorption at the Na+ K+ 2Cl- cotransporter (NKCC2) in the ascending loop of Henle.

Presents like taking XS furosemide:

severe hypokalaemia
XS urinary secretion of calcium
Metabolic alkalosis
Raised renin and aldosterone (due to salt wasting)
Normotensive (due to raas aldosterone increasing resorption in distal convulated tubule)

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12
Q

What happens when there is GH deficiency?

A

Increased fat mass
Decreased lean body mass and BMD

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13
Q

Which sex hormone is responsible for ovulation induction?

A

Luteinising hormone

Can be seen by rise in progesterone level

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14
Q

Outline biochemical features of primary hyperparathyroidism

A

High calcium
Low phosphate (phosphate trashing)
High PTH/upper normal

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15
Q

Outline biochemical features of secondary hyperparathyroidism

A

Low vitamin D (kidney cannot activate vitD)
Hence low calcium resorption etc
CKD hence high phosphate (cannot excrete)
High PTH due to lack of feedback

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16
Q

Mneumonic for hypercalcaemia:

A

VITAMINS TRAP

V vitamin A and D
I immobilisation
T thyrotoxicosis
A addisons
M milk alkali syndrome
I inflammatory
N neoplasm
S sarcoidosis

T thiazides
R rhadomyolysis
A AIDS
P paget’s/parathyroid/parenteral

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17
Q

What is Kallmann syndrome?

A

Isolated GnRH deficiency (Xlinked)
Associated anosmia and hypogonadism

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18
Q

What is hypokalaemic periodic paralysis?

A

channelopathy caused by skeletal muscle ion channel mutations, mainly affecting calcium or sodium channels.

praoxysmal weakess due to hypokalaemia

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19
Q

When do you see raised gonadotrophins (FSH/LH)?

A

primary ovarian failure

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20
Q

What is non-functioning adenoma?

A

Does not produce hormones, just large enough to compress nearby structures

Headache,
bitemporal hemianopia,
pituitary insufficiency

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21
Q

Mneumonic for causes of hypoglycaemia:

A

EX exogenous drugs (insulin, alcohol etc)
P pituitary insufficiency (no GH/cortisol)
L liver failure (no glycogen)
A adrenal failure (no cortisol)
I insulinoma
N neoplasm

ExPLAIN

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22
Q

What blood test differentiates between exogenous and endogenous insulin causing hypoglycaemia?

A

Exogenous- low c-peptide
Endogenous- high c-peptide

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23
Q

What would you see in thyroid scintigraphy in de Quervain thyroiditis (viral)

A

Reduced uptake

All T4 stores released -> TSH is suppressed -> T4 synthesis is switched off

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24
Q

What would you see in thyroid scintigraphy in Grave’s and toxic MNG?

A

Graves: increased diffuse uptake

Toxic MNG: increased focal uptake

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25
Q

What is anti-TPO associated with?

A

Graves (anti TPO and anti TSH-r)
Hashimoto’s thyroiditis (anti-TPO)

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26
Q

How does Addisonian crisis present as and what is the management?

A

Hypotension
Hyperkalaemia
Hyponatraemia
Abdominal pain
Metabolic acidosis

IV hydrocortisone, IVF (normal saline)

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27
Q

What is the FIRSTLINE management of Acromegaly?

A

Surgical:
Transsphenoidal resection (FIRSTLINE)

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28
Q

When do you see low FSH and LH

A

Hypothalamic anemorrhoea

anorexia/stress/excessive exercise

shut down for survival

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29
Q

What is the medical management of acromegaly?

A

Medical (if surgery fail):
Somatostatin analogue (octreotide)
Dopamine analogue (cabergoline)

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30
Q

When do you do low dose dexamethasone suppression test?

A

to diagnose of cushing syndrome

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31
Q

How should you dose adjust thyroxine?

A

Guided by TSH levels

Adjust every 4-8 weeks.

(TSH lag behind T4)

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32
Q

Describe 3 types of prolactinomas

A

Microadenoma: size <10mm
- no visual field defect

Macroadenoma: prolactin level >3000 and size >10mm
- bitemporal hemianopia

Non-functioning: prolactin level may be ~400
- bitemporal hemianopia

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33
Q

Outline the medical and surgical management of prolactinoma

A

First: dopamine agonist (cabergoline) to suppress prolactin and shrink mass

Transsphenoidal surgery if medical fail and symptomatic

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34
Q

Treatment for SVT in patient with phaeochromocytoma

A

Phenoxybenzamine (alpha block)

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35
Q

What are the causes of euglycaemic ketoacidosis?

A

prolonged fasting
pregnancy
SGLT2 inhibitors

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36
Q

What precipitates DKA?

A

Infection (40%)
Non compliance (25%)
Altered insulin dose (13%)
Newly diagnosed diabetes (20%)
MI (<1%)

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37
Q

What is the mode of imaging to determine the volume of thyroid gland?

A

Ultrasound

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38
Q

What 3 initial investigations can be used to screen for cushing syndrome

A

24hr urinary free cortisol
Late night salivary cortisol
Dexamethasone suppression test

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39
Q

What investigation is used to diagnose hyperaldosteronism (conn’s)

A

Aldosterone:Renin ratio

high aldosterone therefore suppressed renin from kidney

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40
Q

When is glucose tolerance test used?

A

Diabetes
Acromegaly

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41
Q

What is milk-alkali syndrome

A

Young patient
presenting with dyspepsia, raised bicarb

Hypercalcaemia resulting from XS calcium intake (milk and antacids)

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42
Q

SMALL cell lung cancer paraneoplastic syndromes

A

ADH -> causing SIADH
ACTH

SMAAA

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43
Q

What is SIADH?

A

Na < 135
Low plasma osmolality
High urine osmolality
High urine sodium (>20)
Euvolaemia

Rule out thyroid/cortisol insufficiency

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44
Q

SQUAMOUS cell lung cancer paraneoplastic syndrome

A

PTH -> hypercalcaemia

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45
Q

What is the formula for serum osmolality?

A

2(Na+K) + urea + glucose

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46
Q

What would you see in sick euthyroid syndrome?

A

Low T3 with illness
Normal TSH

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47
Q

Signs and symptoms of hypocalcaemia?

A

Paraesthesiae
Trousseau’s and Chvostek’s
Tetany and carpopedal spasm
Laryngospasm
ECG- prolonged QTc
Seizure

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48
Q

What is the causes of secondary hypoparathyroidism?

A

Damage to parathyroid glands during thyroid surgery

DiGeorge

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49
Q

What is the immediate treatment for severe hypocalcaemia?

A

10-20ml 10% IV calcium gluconate in 5% dextrose over 10 min

repeat until asymptomatic

followed with calcium gluconate infusion

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50
Q

Why should you alpha block before beta block in phaeochromocytoma?

A

unopposed alpha adrenergic stimulation causes hypertensive crisis

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51
Q

Why should pioglitazone be avoided in HF patients with diabetes?

A

Can cause fluid retention in some people

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52
Q

Side effects of glitazones

A

weight gain
loss of bone mineral density
fracture risk
bladder ca risk

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53
Q

Describe the water deprivation test and desmopressin test (urine osmolality)

A

Deprivation:
Cranial DI = same urine osmolality
Nephrogenic DI = same urine osmolality
primary polydipsia = low urine osmolality

Desmopressin test:
Cranial = RISE in urine osmolality by >50%
Nephrogenic DI = NO RISE urine osm by >45%
Primary polydipsia = concentrates urine little

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54
Q

Which drug is associated with nephrogenic DI

A

Lithium

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55
Q

What is the initial management for thyrotoxicosis?

A

Propylthiouracil

reduces conversion of T4->T3

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56
Q

What are the 2 types of amiodarone induced thyroiditis and their management?

A

Type 1:
increased uptake on isotope scan (like Graves)
positive antibodies
propylthiouracil

Type 2:
absent update due to destruction (like de Queveran’s)
no antibodies
prednisolone

Initial treatment empirical:
propylthiouracil + prednisolone

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57
Q

What are the 2 types of neurofibromatosis and their associated diseases?

A

NF1:
- Ch 17
- cafe au lait
- axillary/groin freckles
- peripheral neurofibroma
- iris hamatoma
- scoliosis
- phaeochromocytoma

NF2 (accoustic neuroma and other CNS tumour)
- Chr 22
- bilateral vestibular schwannoma
- multiple intracranial schwannoma
- meningioma

Both AD inheritance

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58
Q

How do you diagnose adrenal insufficiency (Addision)

A

Short synACTHens

Check anti 21-hydroxylase for CAH

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59
Q

What is the treatment for addisons?

A

OD fludrocortisone
divided dose of hydrocortisone (mainly AM)

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60
Q

Investigation for carcinoid?

A

urinary 5HIAA

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61
Q

What are the stages of non proliferative diabetic retinopathy?

A

Mild: Microaneurysm (>1)

ABCDE A4 B2
Moderate:
Aneurysms
Beading
Cotton wool
Dot/blot hemorrhages
Exudates

Severe:
A4 aneurysms in 4 quadrants
B2 beading in 2 quadrants

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62
Q

What is proliferative diabetic retinopathy?

A

Retinal neovascularisation due to ischaemia
(risk of vitreous haemorrhage)
Fibrous tissue in retinal disc

(need laser photo coagulation)

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63
Q

What are the 4 stages of Hypertensive retinopathy

A

I = Tortuous (one word)
II = AV nipping (two words)
III = cotton wool spots (three words)
IV = papilloedema is the worst (four words lol)

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64
Q

What is branch retinal vein occlusion?

A

segmental haemorrhage

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65
Q

What is the mechanism of action of levonogestrel in emergency contraception?

A

Delay ovulation

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66
Q

Outline management of thyroid storm

A

Life threatening thyrotoxicosis with systemic failure.

beta blocker (IV propanolol)
antithyroid drug (propylthiouracil)
inorganic iodide
steroid (dexamethasone to block T4->T3)
cooling
volume resus
respiratory support in ITU

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67
Q

What is the biochemical finding in PCOS?

A

Low SHBG hence free testosterone

Rise in LH : FSH (3 : 1 ratio)

Rise in testosterone and DHEA

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68
Q

What is DiGeorge syndrome?

A

Microdeletion on Chr 22

Thymic hypoplasia,
cardiac defect (ToF)
LD
hypoparathyroidism-> hypocalcaemia

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69
Q

What lifestyle advice should you give to patients with microvascular complications of diabetes?

A

STOP SMOKING - increases progression to macrovascular complications

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70
Q

What DVLA advice should be given to loss of awareness hypoglycaemia?

A

Not to drive

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71
Q

What is pituitary apoplexy and how does it present?

A

Sudden haemorrhage of pituitary tumour (usually non-functioning)

sudden onset severe headache
hypotension (hypopituitarism)
bitemporal superior quadrantanopia

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72
Q

What is the mechanism of thyroid eye disease?

A

Glucosaminoglycan (GAG) deposition

antiTSH stimulate fibroblast which allows GAG to deposit.

GAG draws water causing oedema.

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73
Q

Why is ALP elevated in vitamin D deficiency?

A

Low Vit D -> increases PTH -> causes bone resorption for calcium -> elevated ALP from bone.

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74
Q

What cardiac complication is hypothyroidism associated with?

A

Pericardial effusion

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75
Q

What are the complications of diabetic autonomic neuropathy?

A

Postural hypotension
Impotence
Gastroparesis

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76
Q

Outline the firstline management of GDM

A

Fasting glucose <7
- diet and exercise
- metformin if above fail

Fasting glucose >7
- insulin +/- metformin

Fasting glucose 6-6.9 + complications
- insulin

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77
Q

What is the diagnostic criteria for GDM?

A

Fasting glucose >=5.6
2hr glucose >=7.8

5678

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78
Q

What would you suspect in recurrent hypoglycaemia?

A

Insulinoma (72hr fast test- inducing hypo)
Insulin abuse
Sulfonylurea

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79
Q

What bloods tests are use to investigate recurrent hypoglycaemia?

A

Insulin
Glucose
C-peptide

during an episode

Low c-peptide in exogenous, High in insulinoma

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80
Q

What is the order of puberty in girls

A

Boobs
Pubes
Grow
Flow

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81
Q

What is the order of puberty in boys

A

Grapes
Drapes
Grow
Flow

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82
Q

What can GDM cause to the foetus

A

Neonatal hypoglycaemia as baby’s insulin remains high

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83
Q

What is the mechanism of action of cabergoline?

A

Dopamine agonist inhibiting prolactin release from anterior pituitary

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84
Q

Outline the 3 types of cushing syndrome

A
  1. iatrogenic (corticosteroid therapy)
  2. ACTH-dependent
    - cushing disease (pituitary adenoma -> causing ACTH
    secretion)
  • ectopic ACTH secretion (cancer)
  1. ACTH independent
    - adrenal adenoma
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85
Q

Describe high dose dexamethasone test -> localise

A

HIGH Cortisol (not suppressed)
- ACTH suppressed -> non ACTH dependent cause (adrenal adenoma)

  • ACTH not suppressed -> Ectopic ACTH

LOW Cortisol (suppressed)
- ACTH suppressed -> Cushing’s disease (pituitary adenoma -> ACTH secretion)

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86
Q

What can mildly low T4 indicate in non thyroid issue?

A

Systemic unwellness

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87
Q

Describe results of short synacthen test

A

Normal response: cortisol increases

Addison’s: inadequate response

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88
Q

What is conn’s syndrome and how does it present?

A

Primary hyperaldosteronism (adenoma)

A:R ratio >800

Secondary HTN
metabolic alkalosis
hypokalaemia

Note: Bilateral adrenal hyperplasia commonest

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89
Q

What is the management for Conn’s

A

Adrenal adenoma: surgical removal

Bilateral hyperplasia: spironolactone (aldosterone ant)

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90
Q

Which medications should be stopped before testing for renin:aldosterone ratio?

A

ACEi/ARB
Spironolactone
Beta blockers
Diuretics

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91
Q

What after care advice should you give patients post radioiodine therapy for Grave’s?

A

Avoid contact with young children and pregnant women for 10 days, and should avoid getting pregnant for 6 months.

CI in pregnancy fetal hypothyroidism.

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92
Q

What is likely to occur with oestrogen only pill?

A

breakthrough bleed

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93
Q

What drugs cause SIADH?

SIADH Cannot Void

A

SSRI
Indomethacin
Antidepressant TCA
Diuretic thiazide
Haloperidol

Carbamazepine
Cyclophosphamide

Vincristine

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94
Q

What are serum and urine osmolalities like in psychogenic polydipsia?

A

Normal

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95
Q

What type of thyroid cancer is Hashimoto’s thyroiditis associated with?

A

Thyroid LYMPHOMA
(MALT lymphoma)

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96
Q

What is sheehan syndrome?

A

Hypopituitarism following post partum haemorrhage (pituitary infarction)

Empty sella

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97
Q

How does prolactinoma present?

A

Hypogonadotrophic hypogonadism

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98
Q

What is liddle’s syndrome?

A

Autosomal dominant

Disordered sodium channel in distal tubule causing increased sodium resorption

Hypertension
hypokalaemia
alkalosis
low renin and aldosterone

Mx: diuretic

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99
Q

What cranial cancer can cause craniopharygioma

A

Diabetes insipidus

inferior quadratanopia

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100
Q

What eGFR should metformin be stopped?

A

eGFR < 30

(renal secretion -> lactic acidosis)

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101
Q

Which diabetic medications cause hypoglycaemia?

A

Gliclazide

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102
Q

Which diabetic medications cause weight gain?

A

Sulfonylurea (gliclazide)

Pioglitazone (CI in HF)

Insulin

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103
Q

Other than cough, what side effect is ACEi associate with?

A

Angioedema

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104
Q

Which 3 compounds contribute to ketosis in DKA? (ABA)

A

Acetone (pear drop)
Beta-hydroxybutyrate -> can linger after 36 hr
Acetoacetic acid

Acetone and acetoacetic acid fall after 36hr

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105
Q

What is the treatment for severe osteoporosis (T score -3.5 or worse)?

A

Denosumab (RANKL ligand inhibitor) every 6 months

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106
Q

What bacterial infection is associated with adrenal insufficiency?

A

TB

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107
Q

Why is hyperpigmentation associated with addison’s?

A

ACTH -> form MSH (melanin stimulating)

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108
Q

What is charcot arthropathy?

A

Diabetic neuropathic arthropathy- trauma to foot -> exaggerated local inflammatory response -> osteoarthropathy

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109
Q

Outline conservative management for diabetic retinopathy

A
  1. optimise glycaemic control slowly
  2. optimise BP and lipids
  3. Annual eye exam
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110
Q

What is Albright’s hereditary osteodystrophy?

A

Autosomal dominant, G protein defect-> PTH resistance -> pseudohypoparathyroisim

short stature
brachydactyly
soft tissue calcification
hypocalcaemia
high PTH

All bright people are fake

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111
Q

Which bone does osteoporosis predominantly affect?

A

Trabecular none

(sponge like bone in ends of long bones and vertebrae)

112
Q

How do you diagnose osteoporosis?

A

DEXA scan: T score -2.5 or less
FRAX score (10 yr probability of major #)

113
Q

What is the most common side effect of oestrogen treatment (HRT)

A

Breast tenderness
Bloating
Nausea

114
Q

Drop in which hormone is causes shedding of endometrium?

A

Progesterone as corpus luteum dies

115
Q

Post partum thyroiditis is more likely in patients with which antibody?

A

anti-TPO ab pre pregnancy

116
Q

Describe 5 different types of thyroid cancers

A

Anaplastic (1%)
- rapid growth, regional LN, stridor
- 50-60 years women
- poor prognosis

Medullary (5%)
- MEN2 syndrome
- <56 years old

Follicular (20%)
- slow growth

Papillary (70%)
- slow growth
- best prognosis

Lymphoma (rare)
- a/w Hashimoto’s
- >60 years old

117
Q

What is Sturge Weber syndrome

A

Vascular disorder in brain and eye abnormal

  1. Epilepsy
  2. Birth mark: Port wine naevus on face

a/w phaeochromocytoma

118
Q

What medication is beneficial for HF, CKD, and T2DM?

A

ACEi (even if normotensive)

119
Q

Which male sex hormone is associated with pubic hair growth?

A

Dihydrotestosterone

120
Q

When is GLP1 analogue contraindicated in?

A

Gastroparesis and delay gastric emptying

121
Q

What is VIPoma?

A

Vasoactive intestinal peptide -> chronic diarrhoea and hypokalaemia and normal anion gap

aka pancreatic cholera syndrome

Neuroendocrine tumour

122
Q

Which GLP1 analogue is contraindicated in IBD?

A

Liraglutide -> give semaglutide

123
Q

Outline the management of T1DM

A

First: Basal bolus regimen (intermediate or long acting) - flexible

Also bolus of short acting insulin prior to meal

124
Q

What type of lipid disease has isolated triglyceridaemia?

A

Familial hypertriglyceridaemia (type 4)

High triglyceride -> XS hepatic VLDL

Risk of early coronary heart disease

125
Q

What are the causes of hyperthyroidism?

A

Toxic multinodular: irregular goitre

Grave’s: smooth goitre

126
Q

Outline management for hyperthyroidism?

A

Medical:
Carbimazole (monitor FBC and LFT)
- risk of agranulocytosis

Beta blockers for palpitations

Pregnant women:
Propylthiouracil in early pregnancy
- switch to carbimazole in later preg due to hepatotoxicity maternal

Surgical:
Radioactive iodine treatment- if high uptake

Subtotal/total thryoidectomy (failed meds/radioiodine)
- pregnant women if medical fail
- risk of hypothyroidism hypoparathyroidism, vocal cord paralysis

127
Q

What is the most common cause of hypothyroidism?

A

Hashimotos thyroiditis (anti TPO)

autoimmune

128
Q

Which gene is associated with T1DM?

129
Q

What does high 17-hydroxyprogesterone indicate?

A

Congenital adrenal hyperplasia

Presents with:
primary amenorrhoea
hyperandrogenism
cliteromegaly

Manage:
1. glucocorticoid replacement to reduce ACTH and minimise adrenal androgen
2. fludrocortisone if deficient
3. flutamide (anti-androgen)

130
Q

What are the 3 types of congenital adrenal hyperplasia?

A

21- hydroxylase: 1 at back only so: no HTN, only virilisation

11-hydroxylase: 1 in both front and back- so both HTN and virilisation

17 hydroxylase - only 1 in front- so only HTN,no virilisation

Mnemonic : 1 in front- HTN. 1 at back- virilisation

131
Q

Which cytokine causes hypercalcaemia in myeloma?

A

Osteoclast (clear) activating cytokine

132
Q

Which cancers release PTHrP causing hypercalcaemia?

A

Gastric cancer
Squamous cell lung cancer

133
Q

What 3 features are associated with neurofibromatosis type 1?

A

cafe au lait spots
axillary freckling
cutaneous neurofibromas

134
Q

What is von Hippel Lindau syndrome

A

Predispose to cancer:
phaeochromocytoma
haemagioblastoma (bleed)
renal cell carcinoma
pancreatic tumour

autosomal dominant- abdormal VHL gene on Chr 3

135
Q

What causes lid retraction and lag in thyrotoxicosis?

A

sympathetic overactivity

136
Q

What are the features seen in Grave’s only?

A

exopthalmos
pretibial myxoedema
thyroid acropathy

137
Q

What is the diagnostic criteria for HHS?

A

BM >30
Serum osm >320
Ketones <3 (no sig ketosis)
Bicarb >15/pH>7.3 (no sign acidosis)

138
Q

How do you convert hydrocortisone dose to prednisolone?

A

pred is 25% of hydrocortisone

139
Q

Which hormones are anterior pituitary responsible for?

A

GH
Prolactin
TSH
ACTH
FSH/LH

140
Q

Which hormones are posterior pituitary responsible for?

A

Vasopressin
Oxytocin
ADH

141
Q

What is carney complex?

A

Autosomal dominant mutation inactivating protein kinase A on Chr 17.

Present with predispose to cancer:
spotting skin pigmentation
myxoma
endocrine tumour
melanotic schwannoma

142
Q

What is the most common pituitary tumour?

A

Prolactinomas

143
Q

What is the management of DKA

A

First: IVF to reduce acidosis
FRII

144
Q

What risks are associated with HRT?

A

Breast cancer
Heart disease
VTE
Stroke
Endometrial cancer

145
Q

What is maturity onset diabetes of the young (MODY) and what gene causes this?

A

Most common type:
MODY2 (Glucokinase) - 20%
MODY3 (HNF1 alpha) - 60%

Others:
MODY 1 (HNF4A)
MODY 4 (PDX1)
MODY 5 (HNF1 beta)-hepatic +renal cyst

Suspect in persistent asymptomatic hyperglycaemia **before age 25, raised HDL, no abs, strong FHx.

146
Q

What is the management for MODY

A

Sulfonylurea!

147
Q

What causes cranial DI?

A

Sarcoidosis
Craniopharyngioma
Head injury

Granulomatosis polyangiitis
Langerhan’s cell histiocytosis

148
Q

Patient presenting with acute pancreatitis and high triglyceride.

What protein deficiency cause hyperlipoproteinaemia type 1B?

A

Apolipoprotein C2 deficiency

Type 1

149
Q

Describe the pathogenesis of lipid synthesis and how lipoprotein lipase deficiency/apoC2 deficiency cause hyperlipoproteinaemia

A
  1. dietary triglyceride in cholesterol packed in GI cell into chylomicrons
  2. secreted into GI lymph into circulation
  3. chylomicron bind to lipoprotein lipase
  4. apolipoprotein C2 in chylomicrons activate lipoprotein lipase to liberate free fatty acid which enter fat/muscle cells
  5. therefore inactive lipoprotein lipase/apo C2 would cause accumulation of chylomicron
150
Q

Which hormones are elevated in anorexia?

A

Cortisol
Cholesterol

151
Q

What does beta hcg do to thyroid function in normal pregnancy?

A

First trimester- can see suppression of TSH due to beta hCG.

152
Q

What is the sick day rule for addisons?

A

double glucocorticoid dose

153
Q

What is glucagonoma?

A

pancreatic alpha cell tumour
impaired glucose tolerance as increases sugar levels.

skin rash- necrotic migratory erythema
normocytic anaemia

154
Q

What is the next step of investigation after renin:aldosterone ratio for Conn’s?

A

Adrenal CT
Adrenal vein sampling (measure aldost)
Plasma 18-hydroxycortisosterone (high)

155
Q

What is the treatment for osteoporosis?

A

Initial: calcium and vit D

First: Risedronate -> if above 65 (worsen GORD)

Second: Raloxifene (SERM) -> risk of VTE

Third:
Severe -3.5 or worse
- Teriparatide -> (daily injection)

  • Denosumab (RANKLi) -> once every 6 month injection
156
Q

Why does cushing’s present with hypokalaemia?

A

Because glucocorticoid can act on mineralocorticoid receptor

157
Q

What is IV pentagastrin test?

A

Inject pentagastrin -> measure calcitonin

Medullary thyroid carcinoma (HIGH)

158
Q

What is c-peptide

A

by product of proinsulin -> c-peptide and active insulin

159
Q

Outline management of secondary hyperparathyroidism:

A

Phosphate binders (1-alpha calcidol)
Vit D and calcium

160
Q

Pancreatic cells and hormones:

A

Alpha: glucagon
Beta: insulin
Delta: somatostatin

161
Q

What is thyrotoxicosis factitia?

A

Exogenous excess intake of thyroid hormone

decreased uptake on scitigraphy
raised T4

162
Q

How do you treat papillary and follicular thyroid cancer?

A

Total thyroidectomr
Then radioiodine to kill residual
Thyroxine replacement

163
Q

Which part of the nephron does ADH act on?

A

Cortical and medullary collecting tubules (increased aquaporin 2 expression)

164
Q

What is the mechanism of action of tamoxifen?

A

Tamoxifen is a Selective oEstrogen Receptor Modulator (SERM) which acts as an oestrogen receptor antagonist and partial agonist.

breast: antagonist
uterus: agonist (risk of cancer)

165
Q

When is radioiodine treatment not recommended for Graves?

A

Thyroid eye disease may worsen

166
Q

Outline DVLA law for diabetics on insulin

A

ensure no severe hypos in last 1 year

must have hypoglycaemic awareness

can drive as long as stable BM control

167
Q

How does hypothalamic anemorrhoea occur?

A

weight loss -> increase ghrelin -> inhibit HPA axis -> slow GnRH pulse -> therefore low LH/FSH -> low oestrogen -> osteoporosis

168
Q

At what TSH level should you replace thyroxine?

A

> 10 mU/l or if very symptomatic with +ve antibodies

169
Q

Which gliptin is associated with heart failure?

A

Saxagliptin

170
Q

Symptoms of klinefelter syndrome (XXY)?

A

tall
gynacomastia
small testicular vol (<12 ml)
infertility.

Need chromosomal analysis (karyotype)

171
Q

bWhy does non-functioning pituitary adenoma cause slight elevation of prolactin?

A

stalk effect-> inhibiting dopamine signal from hypothalamus

172
Q

What does high ALP and mixed lytic and sclerotic lesion indicate?

A

Paget’s disease

173
Q

What is the mainstay treatment for Paget’s?

A

Bisphosphonates

174
Q

Which hypoglycaemic is associated with weight loss?

A

Linagliptin (DPP4)

175
Q

Which thyroid condition can cause raised prolactin?

A

Hypothyroidism

176
Q

What is the consequence of non functioning pituitary adenoma

A

HYPOPITUITARISM

Bitemporal hemianopia

177
Q

How does hyperemesis cause transient hyperthyroidism?

A

High hCG levels stimulate TSH receptors

178
Q

Which conditions are associated with HLA DR3

A

T2DM

Autoimmune hepatitis

Dermatitis herpetiformis

Grave’s

Membranous glomerulonephritis

MG

Addison’s

Sjogren’s

SLE

179
Q

Which condition is HLA B47 associated with

180
Q

Which condition is HLA B27 associated with

A

Seronegative arthropathies (Ank spond)

181
Q

What happens to calcium and phosphate in Vitamin D deficiency?

A

Low Ca and Phosph
High PTH

182
Q

Why do you get hypercalcaemia in sarcoidosis

A

1,25-dihydroxy vitamin D (active vit D) increases as can occur in macrophages in granulomas

Note:
usually activation occurs in kidneys

183
Q

What is McCune Albright syndrome?

A

Somatic mutation in GNAS gene

Cafe au lait skin pigment
Polyostotic fibrous dysplasia (bone)
Autonomous endocrine hyperfunction

184
Q

What is central pontine myelinolysis?

A

Rapid Na correction complication.

Demyelinating pons.

Quadriplegia sparing eyes.
unable to speak/swallow

185
Q

What is miller fisher syndrome?

A

MFS is variant of GBS.

Miller Fisher: Remember from Miller beer
- Drinking too much beer causes “low IQ” hence GQ1b and causes the other symptoms of being drunk (ataxia, areflexia, ophthalmoplegia)

  • descending paralysis (eye downwards)
  • anti- GQ1b ab
  • opthalmoplegia, areflexia, ataxia
186
Q

What medications can cause hypothyroidism?

A

Iodine
Amiodarone
Lithium
Interferons
Rifampicin

187
Q

What is the medical management for Cushing’s syndrome?

A
  1. Ketoconazole
  2. Metyrapone
188
Q

What condition is 45X and delayed puberty?

A

Turner syndrome

(any child with short stature/LD/delayed puberty)

189
Q

What is a male Turner?

190
Q

What is Gitelman syndrome?

A

thiazide sensitive NaCl cotransporter mutation

normo/hypotensive
Hypokalaemic

191
Q

Outline management for diabetes insipidus

A

Cranial: desmopressin

Nephrogenic: thiazide diuretic + low sodium diet -> inhibit sodium resorption hence water in DCT -> reduces urine output.

192
Q

What does androgen binding protein deficiency cause?

A

Oligospermia

Note:
ABP carries testosterone for spermatogensis

193
Q

What would you counsel pregnant women with thyroid autoantibodies?

A

High risk of miscarrigage and preterm

194
Q

Outline management of PCOS

A

Hyperandrogenism:
co-cyprindiol (antagonist)

Menstrual:
COCP

Infertility:
Clomifene (SERM) - ovulation

Weight loss:
Metformin

195
Q

How often should you check TSH in thyroxine initiation/dose change?

A

Monitor via TSH after 4-8 weeks of initiating treatment

196
Q

What endocrine condition should you consider in hyperlipidaemia?

A

Hypothyroidism

Inhibit LDL mediated catabolism and lipoprotein lipase activity decreases.

197
Q

Which antibiotic has good anaerobic cover?

A

Clindamycin

198
Q

Differentiate between classical CAH and non classical CAH

A

Classical: severe
salt wasting and ambiguous genitalia
Low cortisol and aldosterone

Non classical: milder
hyperandrogenism

high 17-OH progesterone and testosterone

Both due to 21 hydroxylase deficiency

199
Q

How does sarcoidosis cause cranial DI?

A

destruction of posterior pituitary tract hence unable to release ADH

200
Q

Outline primary secondary and tertiary hyperparathyroidism

A

Primary:
High PTH, High Ca, Low Phos

Secondary:
High PTH, due to low Ca (CKD)
- disordered Vit D metabolism
- give calcium, vit D, phosphate binders.

Tertiary: Hyperplasia from chronic secondary
High PTH, High Ca (ESRF)
- escaped PTH feedback loop despite calcium supplement hence lead to hypercalcaemia

201
Q

What is the treatment for diabetic gastroparesis?

A

First: domperidone

202
Q

What is the screening blood test for Wilson’s disease?

A

serum caeruloplasmin

203
Q

What is the mechanism of bisphosphonates?

A

Inhibits osteoclasts

204
Q

What would TFT look like in pituitary tumour induced hyperthyroidism and how would you investigae?

A

High TSH
High T4

MRI pituitary

205
Q

What sign is specific of Grave’s?

A

Pre-tibial myxoedema

Accumulation of glycosaminoglycans

206
Q

How would you replace fluids in DKA?

A

0.9% saline 1L over 1hr
0.9% saline+kcl over 2hr
0.9% saline+kcl over 4hr
0.9% saline+kcl over 6hr

207
Q

What is the insulin dose for FRII for DKA?

A

0.1 U/Kg/hr

208
Q

What is pseudohyperparathyroidism?

A

rare genetic disorder that prevents the body from responding to parathyroid hormone (PTH), causing high phosphate low calcium

209
Q

What does severe hypopituitarism cause?

A

Hypothyroid
Low cortisol
Hyponatraemia

210
Q

What is saline suppression test?

A

Used to confirm equivocal Renin:aldosterone ratio for Conn’s

211
Q

Define diabetes insipidus

A

Peeing >3L
dilute urine

212
Q

What is the target BM and HbA1c for women planning pregnancy?

A

premeal/bedtime/overnight: 3.3-5.4

peak postprandial: 5.4-7.1

HbA1c < 6%

213
Q

What is the mechanism of SGLT2i (dapa)

A

block reabsorption of glucose in kidney

proximal renal tubule glucose transporters

pee more glucose

214
Q

What is pseudo-cushing syndrome?

A

alcoholism can make cushingoid appearance

normal urinary cortisol
normal low dex suppression

215
Q

Outline complete androgen insensitivity (XY karyotype)?

A

partial or complete inability to respond to androgens (lack dihydrotestosterone receptor)

  • impaired masculinisation
  • develop normal breast
  • lack of pubic hair
  • infertile
  • bilateral inguinal hernia infantile
  • serum testosterone level high
216
Q

What is Exenatide and when is it contraindicated?

A

GLP1 agonist

(renal impairment)

217
Q

How does GLP1 agonist work?

A

increases insulin release with glucose load

delay gastric emptying

218
Q

What complications can you have with myxoedema (severe hypothyroidism)

A

Heart failure

219
Q

Bartter vs Gitelman vs Liddle syndrome

A

Bartter: low K, met alkalosis, Low Ca
Raised renin and aldosterone
NORMOTENSIVE

Gitelman: low K, met alkalosis, High Ca
NORMOTENSIVE

Liddle: low K, met alkalosis, HYPERTENSION
Low renin and aldosterone

BCG - barter calcium gitelman

220
Q

What are the symptoms of hyperprolactonaemia?

A

Amenorrhoea
Galactorrhoea
Loss of libido
Subfertility
Androgen deficiency

221
Q

What are the causes of hypokalaemia?

A

LESS K

Lasix (diuretics)
Enteric loss
Steroid
Shift in from insulin/salbutamol

Kidney disease

222
Q

What are the causes of hyperkalaemia

A

K BANK
(k supplement, beta blocker, ace/arb/aki, nsaid, k sparing)

223
Q

What does ketonuria indicate?

A

Insulinopaenia as in T1DM

224
Q

Management of diabetic foot ulcer

A

Non removable casting

wound debridement
infection management
revascularisation procedures

225
Q

What should lithium be switched to in pregnancy?

A

Lamotrigine

226
Q

What’s the most common tumour seen in MEN1?

A

Hyperparathyroidism (95%)

227
Q

When is post partum thyroiditis likely to occur?

A

1-6 months post partum

anti-TPO +ve

228
Q

What is the mechanism of action of sulphonylurea?

A

bind ATP dependent K channel on beta cells

229
Q

What is the mechanism of DPP4 inhibitor (glutide)

A

inhibit breakdown of natural GLP1 (natural incretin hormone response to meal)

230
Q

Which hormone is responsible for cessation of growth and long bone fusion?

231
Q

Why does feminisation occur in obesity or alcoholism?

A

increased aromatase activity

cholesterol->testosterone->oestradiol by aromatase

232
Q

How does MODY 2 present?

A

glucokinase mutation (glucose sensor on beta cell)
fasting glucose high

233
Q

How does MODY 3 present? (most common)

A

HNF1alpha mutation
reduction in beta cell function
similar to T1DM presentation

234
Q

How does MODY 5 present?

A

HNF1beta mutation
renal cyst

235
Q

What causes pseudohyponatraemia?

A

hyperglycaemia
hyperlipidaemia

236
Q

Management for profound hypothyroidism (myxoedema coma)

A

T3 infusion/NG 5 microgram every 8 hrs

convert to T4 when conscious

237
Q

How does glucagon reverse hypoglycaemia

A

Activate adenylate cyclase

breaks down glycogen to free glucose

238
Q

What metabolic abnormality does cushing’s disease cause?

A

Hypochloraemic
metabolic alkalosis

239
Q

When is radioisotope scan helpful?

A

Thyrotoxicosis/cold nodules ?neoplasm

Not in euthyroid patients

240
Q

Why is c-peptide high in sulfonylurea abuse?

A

Gliclazide increases endogenous insulin release hence raised cpeptide

241
Q

What is the target BP for patients with and without diabetes?

242
Q

Which diabetic medications stimulate insulin output?

A

Sulfonylurea
DPP4
GLP1

243
Q

What diabetic retinal photography finding would warrant urgent referral to opthalmology?

A

neovascularisation near the optic disc- risk of vitreous haemorrhage-laser photocoagulation

244
Q

What are the 5 types of GLUT?

A

1- basal non insulin stimulated glucose uptake into cells
2- transport glucose into beta cells for glucose sensing
3- non insulin mediated glucose uptake into brain neurons
4- INSULIN SENSITIVE glucose uptake into muscle and adipose cells
5- fructose transporter on small intestine

245
Q

How is thyroid lymphoma treated?

A

Chemotherapy (R-CHOP)
Radiotherapy (external beam)

Rituximab

Not surgically treated.

246
Q

What is the most specific feature on bone biopsy that suggests Paget’s disease?

A

Multinucleated osteoclasts

247
Q

Which enzyme does insulin inhibit and promote intracellularly?

A

Inhibit: Pyruvate carboxylase (thus low gluconeogenesis)

Promote: Pyruvate dehydrogenase

248
Q

What is hereditary haemochromatosis?

A

Iron overload=> HPA dysfunction=>hypogonadotrophic hypogonadism

249
Q

Which hormones are suppressed in pregnancy?

250
Q

What is the function of aldosterone?

A

Salt and water balance

251
Q

Which cancer is associated with acromegaly?

A

Colorectal cancer

252
Q

What is the sequence of events for De Quervain’s Thyroiditis? How do you treat?

A

Thyrotoxicosis for weeks
Followed by transient hypothyroid
Normalised TFT

Mx: propanolol for sx and NSAIDs.

253
Q

What causes lipohypertrophy?

A

Repeated insulin injection into same site

254
Q

What is Diabetic amyotrophy/proximal neuropathy/lumbosacral plexopathy?

A

severe aching or burning pain hip and thigh

=>

weakness and wasting of thighs.

255
Q

Is cabergoline contraindicated in pregnancy?

256
Q

Outline treatment for Kallmans

A

Not planning pregnancy:
- testosterone patches/injection/implant

Planning pregnancy:
- pulsed subcut therapy with GnRH analogue to stimulate spermatogenesis

257
Q

How to you investigate for phaeochromocytoma?

A
  1. Urinary/plasma metanephrines
  2. CT abdomen
  3. MIBG scan if CT or MRI adrenal -ve
258
Q

What is polyglandular syndrome?

A

Type 1:
- hypothyroid
- candidiasis
- adrenal insufficiency
- primary gonadal failure
- primary hypothyroidism
- hypopituitarism/diabetes insipidus

Type 2:
- adrenal insufficiency
- hypothyroid
- T1DM
- gonadal failure
- diabetes insipidus

259
Q

What is the mechanism of action of metformin?

A

Increases insulin sensitivity

Decreases hepatic gluconeogensis

activation of the AMP-activated protein kinase (AMPK)

260
Q

What 3 autoantibodies should be sent for T1DM?

A

GAD
Islet
IA-2

261
Q

What is the TFT like in TSH secreting pituitary tumour?

A

High T3/T4
Normal TSH (no negative feedback)

262
Q

What is agranulocytosis?

A

Dangerous leukopenia

263
Q

What treatment should you give in postpartum thyroiditis?

A

hyperthyroid: Propanolol
hypothyroid: thyroxine if symptomatic/TSH>10

264
Q

Outline treatment for severe symptomatic hyponatraemia

A

IV 3% saline 300ml bolus

no more than 10mmol/L over 24 hrs

aim Na 130

265
Q

Outline management for diabetes in pregnancy

A

Initial: diet and exercise
First: metformin
Second: Glibenamide (sulfonylurea)
Third: insulin (first if fasting >7)

266
Q

How do you diagnose GDM/diabetes in pregnancy with OGTT

A

GDM (5678)
- fasting >5.6
- 2hr later >7.8

DM (as in normal diabetes) (7/11)
- fasting >7
- 2hr later >11.1

IGT (as in normal diabetes)
- fasting 6-7
- 2hr later 7.8-11.1

267
Q

How does metoclopromide cause prolactinaemia?

A

Bind to D2 receptor on pituitary - stimulate prolactin release

268
Q

What is riedel’s thyroiditis?

A

Chronic inflammation of thyroid causing dense fibrotic infiltration causing hypothyroid

269
Q

What is the order of most common post op complication for subtotal thyroidectomy?

A
  1. Hypothyroidism
  2. Recurrent hyperthyroidism
  3. Transient hypoparathyroidism
  4. Recurrent laryngeal nerve palsy
270
Q

What causes raised DHEA?

A

PCOS
Non classical CAH (11Bhydroxylase)

271
Q

Adrenal hormone and location

A

G - SALT
F- SUGAR
R- SEX

272
Q

What is familial hypocalciuric hypercalcaemia

A

Autosomal dominant
mutated CASR gene
lack of calcium sensor -> raise PTH->high calcium

No treatment.

273
Q

What is Gordon syndrome?

A

pseudohypoaldosteronism

mimic addisons
- hyperkalaemia
- metabolic acidosis

fail to respond to aldosterone therefore high aldosterone.

274
Q

What is the mneumonic for metabolic acidosis with raised anion gap?

A

MUDPILES

methanol
uraemia
DKA
propylene
infection
lactic acidosis
ethylene
salicylates

275
Q

What is the mneumonic for metabolic acidosis with normal anion gap?

A

USED CAR

urethral diversion
saline infusion
exogenous acid
diarrhoea
carbonic anhydrase inhibitors
addisons
renal tubular acidosis

276
Q

What is turner’s syndrome and management?

A

X deletion (45X)

Treatment:
Growth: GH
Puberty and prevent osteoporosis: oestrogen
followed but progesterone 2 years later