Station 2/5: Endocrine/ Others

Question 1

what is acromegaly?

Answer 1

excess GH activity as a result of a functional pituitary macroadenoma

Question 2

what are the indicators of activity in acromegaly?

Answer 2

• increased sweatiness
• increased headache
• worsening visual field defect
• increased size of goitre/ size of hands/ shoe size
• skin tags, acanthosis nigricans
• HTN
• glycosuria

Question 3

what are angioid streaks?

Answer 3

degeneration and fibrosis of Bruch’s membrane

Question 4

what are some causes of macroglossia?

Answer 4

acromegaly
hypothyroidism
amyloidosis
downs syndrome
haematological malignancy

Question 5

complications of Acromegaly

Answer 5

Metabolic/ Endocrine:
DM in 20%
HyperTG in 40%

Cardiovasc:
HTN
Cardiomyopathy, CCF

Respiratory:
Acute dyspnoea, stridor (upper airway narrowing)
Obstructive sleep apnoea

Abdomen:
Colonic polyps and malignancies (colon cancer)
Organomegaly
Testicular atrophy

Neuromuscular:
Proximal myopathy
Nerve root compression - Carpal tunnel syndrome, radiculopathy
Spinal stenosis

Calcium/ bone metabolism:
hypercalciuria
hyperphosphataemia
urolithiasis

osteoarthritis

Question 6

What are conditions with excess growth hormone besides acromegaly?

Answer 6

MEN Type 1
McCune Albright Syndrome: polyostotic fibrous dysplasia, sexual precocity, cafe au lait spots
Carney Complex - multicentric tumours in multiple organs, pigmented skin lesions, pigmented nodular hyperplasia (auto dom)

Question 7

Features of MEN1?

Answer 7

PPP

Pituitary tumour
Pancreatic tumour
Parathyroid adenoma or hyperplasia

Question 8

Features of MEN IIa?

Answer 8

MPP

Medullary thyroid cancer
Phaeochromocytoma
Parathyroid hyperplasia

Autosomal dominant
RET oncogene mutation

Question 9

features of MEN IIb?

Answer 9

MMM+P

Medullary thyroid cancer
Phaeochromocytoma
Mucosal neuromas
Marfanoid features

Auto dom

Question 10

History for acromegaly - what specific features to ask

Answer 10

• headache
• sweating
• visual field defect
• change in size: hands, feet, facial changes, dental changes, outgrowing shoes/ wedding ring (ask for old pics for comparison)
• parasthesiae and weakness (entrapment neuropathy e.g. carpal tunnel)
• arthritis
• SOB (cardiac failure)
• females: galactorrhoea, oligo/amenorrhoea
• males: impotence, gynaecomastia
• goitre/ prev thyroidectomy

PMH: DM HTN

Question 11

examination for acromegaly?

Answer 11

hands
- sweaty
- large spade like doughy hands
- hand joints: osteoarthritis, joint deformities
- double pinch test for increased skin thickness
- tinel’s sign for carpal tunnel syndrome

arms:
- test for proximal weakness

face:
- hirsutism
- protruding forehead
- prominent supraorbital ridges
- transfrontal scar
- large bulbous nose
- thick lips
- prognathism
- macroglossia
- sweatiness
- Visual fields for bitemporal hemianopia

Neck:
skin tags
examine for goitre
thyroidectomy scars

Chest:
- gynaecomastia, galactorrhoea (excess prolactin)
- palpate for displaced apex beat (Cardiomegaly), examine for signs of CCF

**axilla: **
- acanthosis nigricans
- skin tags
- paucity of axillary hair (hypogonadism)

**lower limb: **
- bowed legs
- pitting oedema from CCF

Question 12

examination for acromegaly: how to complete your examination?

Answer 12

• fundoscopy for papilloedema/ optic atrophy/ angioid streaks
• formal visual fields assessment
• abdominal exam for organomegaly, testicular atrophy, DRE if any PR bleeding (colon ca)
• check BP for HTN
• check random blood glucose

Question 13

characteristic features of acromegaly?

Answer 13

prominent supraorbital ridges
large nose, thick lips
prognathism
macroglossia, dental malocclusion with splayed teeth
transfrontal scar to suggest previous pituitary surgery

large doughy spade like hands which are sweaty

Question 14

diagnosis of acromegaly?

Answer 14

• screen with IGF-1 (insulin growth factor 1): can also be used to monitor disease activity and treatment
• Oral glucose tolerance test: 75g glucose
• > serum glucose and GH levels taken at baseline and at 30 min intervals until 2-3h
• look for failure of suppression of GH

Question 15

Ix of Acromegaly?

Answer 15

**Diagnostic: **IGF-1, OGTT

Imaging:
MRI pituitary fossa
CXR - cardiomegaly

Dynamic pituitary function testing: for panhypopituitarism and co-secretion of prolactin
- synacthen test
- TFT
- prolactin level
- FSH, LH, Oestradiol/testosterone

Others:
- perimetry
- calcium levels for parathyroid adenoma/hyperplasia in MEN 1
- ECG: LVH

Question 16

imaging in acromegaly?

Answer 16

MRI of pituitary fossa for macroadenoma

skull X-ray for enlargement of sella/ pituitary fossa

CXR: cardiomegaly

Hand and feet Xray: terminal phalangeal tufting, thickened heel pad (>23mm thick on lateral X-ray)

Question 17

Dynamic pituitary function testing in acromegaly

Answer 17

to look for panhypopituitarism, and co-secretion of prolactin from macroadenoma

• synacthen test (Addisons)
• thyroid function test
• Prolactin level (20% assoc w hyperprolactinaemia)
• FSH, LH levels, oestradiol/ testosterone levels

Question 18

how may prolactin levels be affected in acromegaly?

Answer 18

20% associated w hyperprolactinaemia
-> high because of (A) co-secretion or (B) compression of pituitary stalk with interference of dopaminergic suppression of prolactin production

or

low in hypopituitarism

Question 19

Management in Acromegaly?

Answer 19

Medical:
1) somatostatin analogues: octreotide
2) Dopamine agonist: cabergoline, bromocriptine
3) GH receptor antagnoist Pegvisomant (sc daily injections)

Surgical +/- Radiotherapy:
transphenoidal resection of the pituitary

Question 20

surgical options for acromegaly pituitary lesion?

Answer 20

transphenoidal resection of the pituitary (either entry through inside of upper lip or nose)

or open surgery (transcranial scar across top of forehead)

Question 21

how does octreotide work in acromegaly?

Answer 21

somatostatin analogue
- blocks the peripheral effect of growth hormone
- therefore blocks hepatic production of IGF

monthly sc injections

Question 22

follow up in acromegaly?

Answer 22

will need lifelong follow up

even after resection, there is risk of recurrence

may monitor with IGF1/ imaging

Question 23

what are the causes of Cushing’s syndrome?

Answer 23

Exogenous (90%)

Endogenous (10%):
- ACTH Dependent (90%): Pituitary adenoma (90%) aka Cushing’s disease, Ectopic ACTH production (10%)
- ACTH independent (10%): Adrenal adenoma/c carcinoma/ hyperplasia

Question 24

Causes of ectopic ACTH production?

Answer 24

small cell lung Ca
Bronchia Ca
Carcinoid tumour, bronchial carcinoid
pancreatic carcinoma
non teratoma ovarian tumour
thymoma
phaeochromocytoma

Question 25

Causes of ACTH independent Cushing's syndrome

Answer 25

Adrenal adenoma, carcinoma, hyperplasia - Adrenal hyperplasia may be part of Carney complex (pigmented skin lesions with endocrine and mesenchytmal tumours) - or part of McCune Albright syndrome

Question 26

what is pseudo Cushing's syndrome?

Answer 26

patient may display signs, symptoms and abnormal hormone levels seen in Cushing's syndrome, but not due to problem in the hypothal-pituitary-adrenal axis causes: - depression, drugs - OCP, obesity - Alcohol - acute illness can cause false positive dexamethasone suppression test or 24h urinary free cortisol

Question 27

how to differentiate Cushing's syndrome from pseudo Cushing's syndrome?

Answer 27

insulin stress test may be used to differentiate

Question 28

Screening test for Cushing's syndrome?

Answer 28

- overnight dexamethasone suppression test: serve 1mg between 11pm and midnight, measure 8am cortisol next morning (>2mcg/dl) or - 24h urinary cortisol

Question 29

ix of cushing's syndrome?

Answer 29

- screen with 24h urinary cortisol or overnight dexamethasone suppression test to confirm diagnosis of endogenous cushing's syndrome - then workup cause with high dose dexamethasone suppression test and plasma ACTH Imaging: CXR- if ectopic ACTH suspected AXR- adrenal calcification MRI adrenals, pituitary: unreliable as tumours often small + high incidence of incidental tumours Special tests: CRH test- to distinguish ectopic ACTH source vs Cushing's disease Inferior petrosal sinus sampling - to distinguish primary and ectopic ource of ACTH when other tests inconclusive

Question 30

Low dose dexamethasone suppression test (0.5mg QDS x 2 days) -> failure to suppress cortisol?

Answer 30

pituitary adenoma (cushing's disease) ectopic ACTH secretion cortisol-secreting tumour

Question 31

elevated midnight cortisol levels but able to suppress cortisol to normal with Low dose dexamethasone suppression test?

Answer 31

causes: obesity ETOH abuse anxiety depression pregnancy PCOS

Question 32

High dose dexamethasone suppression test in Cushing's syndrome 2mg QDS x 2 days -> able to suppress cortisol to normal cause?

Answer 32

Pituitary adenoma (Cushing's disease)

Question 33

High dose dexamethasone suppression test in Cushing's syndrome 2mg QDS x 2 days -> failure to suppress cortisol causes?

Answer 33

Ectopic ACTH secretion or Cortisol-secreting adrenal tumour

Question 34

How to differentiate between ectopic ACTH secretion and cortisol-secreting adrenal tumour/

Answer 34

serum ACTH (9am and 12 midnight) -> Elevated ACTH suggest ACTH dependent cause (Ectopic ACTH secretion) -> suppressed ACTH suggest ACTH independent cause e.g adrenal adenoma, ca, hyperplasia

Question 35

Cushing's syndrome: what ix to differentiate between the various underlying causes?

Answer 35

1) low dose dexamethasone suppression test 2) high dose dexamethasone suppression test -> will differentiate pituitary adenoma 3) serum ACTH -> will differentiate between ectopic ACTH secretion and cortisol secreting tumour (ACTH independent cause) or can also do ACTH first 2) ACTH suppressed -> will differentiate adrenal adenoma 3) ACTH still high -> high dose dex suppression test: if ectopic ACTH, then no change in cortisol. if pituitary cause, then cortisol suppressed

Question 36

Cushing's syndrome: CRH stimulation as a localizing test?

Answer 36

give CRH -> if pituitary source, then cortisol rises -> if ectopic/ adrenal, then no change in cortisol

Question 37

Cushing's syndrome: Petrosal sinus sampling of ACTH as a localising test?

Answer 37

compares central ACTH concentration compared to peripheral value (ie. from arm veins) to help differentiate between pituitary and ectopic ACTH secretion

Question 38

high cortisol -> Low dose and high dose dexamethasone suppression test suppress cortisol levels

Answer 38

pseudo cushings

Question 39

high cortisol -> low dose Dex suppression test: cortisol still high -> high dose Dex suppression test: cortisol still high -> ACTH low

Answer 39

Adrenal cause

Question 40

high cortisol -> low dose Dex suppression test: cortisol normal/ still high -> high dose Dex suppression test: cortisol **suppressed** -> ACTH normal/ high

Answer 40

pituitary cause of cushings

Question 41

high cortisol -> low dose Dex suppression test: cortisol still normal/ high -> high dose Dex suppression test: cortisol still normal / high -> ACTH raised

Answer 41

ectopic ACTH production

Question 43

Management of Cushing's syndrome?

Answer 43

treat primary cause ie. exogenous steroids-> withdrawal if possible endogenous cause -> surgery/ medical therapy

Question 44

management of cushing's syndrome from exogenous steroids?

Answer 44

withdrawal of steroids if possible if not possible, monitor for complications and treat accordingly e.g DM, HTN, PUD, Osteoporosis

Question 45

management of cushing's disease?

Answer 45

surgery: - transpehnoidal hypophysectomy - transfrontal hypophysectomy - pituitary irradiation

Question 46

management of ectopic ACTH production

Answer 46

locate source, treat appropriately if unable to, adrenalectomy or medical therapy medial therapy if surgical not possible can use metyrapone (inhibition of 11 beta hydroxylase, inhibits conversion of 11-deoxycortisol to cortisol), ketoconazole (suppression of cortisol levels)

Question 47

management of ACTH independent adrenal adenoma/ carinoma or hyperplasia?

Answer 47

adrenal adenoma/ carcinoma - unilateral adrenalectomy adrenal hyperplasia- bilateral adrenalectomy medical therapy if surgery not possible e.g metastatic adrenal carcinoma. can use ketoconazole, metyrapone

Question 48

what is Nelson's syndrome?

Answer 48

- assoc bilat adrenalectomy for cushing's disease - due to absent negative feedback of cortisol in the pituitary adenoma, with expansion of the pituitary adenoma with headache, bitemporal hemianopia and panhypopituitarism eventually

Question 49

what are purple striae?

Answer 49

due to weakening and disruption of the collagen fibres of the dermis leading to exposure of the underlying vascular tissue

Question 50

signs suggesting ectopic ACTH secretion?

Answer 50

absence of cushingoid habitus prominent oedema and hypertension marked muscle weakness

Question 51

cushings syndrome: features suggesting adrenal carcinoma?

Answer 51

virilisation in the female, gynaecomastia in male palpable abdominal mass

Question 52

significance of hyperpigmentation in a cushingoid patient

Answer 52

implies that Cushings syndrome is due to ACTH excess - ACTH can directly bind to Melanocyte stimulating hormone receptors on melanocytes and increase melanin production

Question 53

examination of patient with Cushing's syndrome

Answer 53

upper limbs: hands- clubbing, nicotine staining, hyperpigmentation (lung ca) RA, SLE (steroid therapy) - bruising - thin skin - peripheral wasting of ULs - proximal myopathy (test power) - acanthosis nigricans (axilla)| face - rounded countenance - hirsutism - facial plethora - telangiectasia - acne - cataracts - anaemia - oral thrush, buccal pigmentation neck/ back: - interscapular and supraclavicular fat pad abdomen: truncal obesity purple striae lower limb: oedema, bruising stand patient up: look for kyphoscoliosis palpate for tenderness of spine (osteoporosis and vertebral collapse)

Question 54

examination of cushings syndrome: what to request for completion of examination

Answer 54

BP for HTN urine dipstick for glycosuria visual field assessment - though majority of pituitary adenoma are microadenoma examine lungs for asthma (steroid treatment), pulmonary fibrosis (CTD: steroid treatment) ask history of exogenous steroid intake assess for virilisation in females - deepening of voice, breast atrophy, clitoromegaly

Question 55

complications of cushings syndrome

Answer 55

cuushingoid features: buffalo hump, thin skin, bruises oral thrush cataracts GI ulcers striae hirsutism HLD DM HTN AVN femoral head osteoporosis neuropsychiatric- mood disrders, depression, psychosis proximal myopathy

Question 56

History taking in patient presenting with infertility? consider primary vs secondary hypogonadism

Answer 56

HPC: - how long trying? - age of pubertal growth? - secondary sexual characteristics - height / weight? - sensitive qns: difficulty with arousal / erectile dysfunction? Family history? PMH - MVP? - childhood infection mumps? - chronic long term illness which may cause 2' hypogonadism - medications: anti-androgens e.g. cimetidine, digoxin, spironolactone, ketoconazole

Question 57

features of Klinefelter's syndrome

Answer 57

- tall - lack of secondary sexual characteristics: paucity of axillary/ facial hair, lack of masculine voice - bilataral gynaecomastia XXY azoospermia raised gonadotropins lower IQ greater incidence of somatic abnormalities e.g. cryptorchidism, hypospadias if additional Y chromosome XXYY: aggression

Question 58

examination of patient with suspected Klinefelter's syndrome?

Answer 58

general appearance: male tall eunuchoid appearance (hour glass rather than V shape body, long arms and legs with arm span greater than height) minimal facial hair voice not masculine feminine distribution of fat (broad hips, poor musculature) face: lack of facial hair chest: - gynaecomastia - paucity of axillary hair CVS: MVP in 55% of patients LL: varicose veins, stasis eczema, venous ulcers (prevalence of venous ulcers 10-20x higher) and risk of DVT/PE is raised

Question 59

Klinefelters syndrome: what to offer to complete examination

Answer 59

offer to examine: - genitalia for paucity of pubic hair and underdeveloped testes (normal adult size >3.5cm) - measure upper segment (crown to pubic symphis) and lower segment (pubic symphis to heel) ratio. US < LS - sense of smell (Differential: Kallman's) - cognition/ behaviour: Intelligence quotient assessment, ask family for aggressive behaviour

Question 60

causes of secondary hypogonadism?

Answer 60

1) congenital: Kallman's (hypothalamic hypogonadism) 2) Pituitary failure (panhypopituitarism) 3) systemic disease/ chronic illness

Question 61

causes of hypergonadotrophic hypogonadism ie. primary hypogonadism (testicular/ ovarian failure)

Answer 61

1) Congenital/developmental: Klinefelter's testicular/ ovarian agenesis Turner's syndrome (45XO) 2) infective: mumps orchitis, leprosy 3) primary ovarian failure (autoimmune) or primary testicular failure e.g. in myotonic dystrophy 4) iatrogenic surgical removal chemotherapy / radiation 5) drugs; antiandrogenic medications 6) malignancy: testicular tumours 7) infiltrative: leukaemia, sarcoidosis

Question 62

History taking in Marfan’s Syndrome

Answer 62

- Onset of skeletal features - Eyes - severity of myopia, hx of retinal detachment, glaucoma, lens disorder - CVS - hx of cardiac conditions & surgery, hx of CCF - Resp - hx of PTx - FMHX

Question 63

Examination of Marfan’s syndrome

Answer 63

Question 64

Skeletal features of Marfan’s syndrome

Answer 64

- tall stature w disproportionally long limbs -arm-span-to-height ratio >1.05 reduced upper-lower segment ratio - kyphoscoliosis - pectus carinatum/excavatum - reduced elbow extension Hands - arachnodactyly - jt laxity: 1) thumb sign - thumb clenched in fist protrudes beyond the clenched fingers 2) wrist sign - able to wrap hand around wrist such that thumb & little finger overlaps 3) thumb extension to wrist pes planus Face: frontal bossing, prominent supraorbital ridges high & narrow arched palate

Question 65

Ocular features of Marfan’s syndrome

Answer 65

- **glaucoma** - Flat cornea - blue sclera - hypoplasia of dilator pupillae - makes pupillary dilatation difficult - iridodonesis: tremor of iris ectopia lentis - **upwards lens dislocation** - small & spherical lens - **myopia** - look for thick specs - **retinal detachment**

Question 66

Cardiorespiratory features of Marfan’s

Answer 66

- aortic root dilatation (commonest CVS abnormality), aortic regurg, MVP, aortic aneurysm/ dissection - signs of cardiac failure: raised JVP, lung crepitations, pedal edema - spontaneous PTx

Question 67

Diagnosis of Marfan's based on what criteria?

Answer 67

presence of EL = Ectopic lentis, Ao = aortic root dilatation, sufficient systemic features: - wrist sign, thumb sign, reduced elbow extension - pectus carinatum/excavatum, chest asymmetry - hindfoot deformity, pes planus, protrusion acetabulae - reduced upper: lower segment ratio, increased armspan: height ratio > 1.05, scoliosis/ kyphosis - pneumothorax, MVP - dural ectasia - facial features, myopia - skin striae

Question 68

diagnostic criteria for marfans syndrome in greater detail?

Answer 68

FBN1 - fibrillin gene mutation

Question 69

what are the systemic features considered within marfans syndrome which lends weight to diagnosis?

Answer 69

- wrist sign, thumb sign, reduced elbow extension - pectus carinatum/excavatum, chest asymmetry - hindfoot deformity, pes planus, protrusion acetabulae - reduced upper: lower segment ratio, increased armspan: height ratio > 1.05, scoliosis/ kyphosis - pneumothorax, MVP - dural ectasia - facial features, myopia - skin striae

Question 70

management of Marfan's syndrome?

Answer 70

Genetic counselling: - auto dominant - fibrillin gene on chr 15 opthalmic examination and follow up cardiac: annual TTE - monitor aortic dilatation and MV function - may require prophylactic replacement of aortic root with composite graft when diameter >50-55mm - untreated patients may die in 4-5th decade from aortic dissection or cardiac failure 2' AR +/- chronic beta blocker to slow rate of aortic dilatation

Question 71

DDx of Marfans syndrome?

Answer 71

Ehlers Danlos Homocystinuria: associated with downward lens dislocation, and homocystine in urine

Question 72

common cause of mortality in marfan's syndrome?

Answer 72

cardiovascular complications cause 95% of deaths

Question 73

complications of pregnancy in women with Marfan's syndrome?

Answer 73

- early premature abortion - risk of maternal death from aortic dissection

Question 74

how to score joint hyperlaxity?

Answer 74

Beighton score of >/= 4/9 - Hip hypermobility: able to touch floor with palms of hand while standing up without bending knees - Elbow hyperextension > 10 degrees (Lt and Rt) - Knee hyperextension > 10 degrees (Lt and Rt) - Able to touch forearm with thumb passively when flexing wrist (Lt and Rt) - Passive extension of fingers >90 degrees (Lt, Rt)

Question 75

History in Phaeochromocytoma?

Answer 75

Episodic - palpitations, chest tightness - abdo pain, vomiting - anxiety - giddiness - weakness sweating headaches symptoms ppt sneezing, stress, surgery, cheese, ETOH, TCAs complications catecholamine induced cardiomyopathy Associations MEN II NF Type 1 Thyroid mass Von Hippel Lindau syndrome secondary polycythaemia glycosuria

Question 76

examination of phaeochromocytoma?

Answer 76

- cardio/ resp: Heart failure, displaced apex beat - thyroid exam - abdo: renal bruit

Question 77

complications of phaeochromocytoma?

Answer 77

catecholamine induced cardiomyopathy

Question 78

associations of phaeochromocytoma?

Answer 78

MEN II NF Type 1 Thyroid mass Von Hippel Lindau syndrome secondary polycythaemia glycosuria

Question 79

phaeochromocytoma: rule of 10s

Answer 79

familial in 10% bilateral in 10% malignant in 10% extra-adrenal in 10% (most common extra adrenal site= organ of Zuckerkandl, adjacent to the bifurcation of the aorta)

Question 80

Features of MEN1?

Answer 80

parathyroid pituitary (usually prolactinomas, then acromegaly, cushing's disease) Pancreas (Usually gastrinomas, and insulinomas) (Carcinoid) (Adrenal adenomas)

Question 81

features of MEN2a?

Answer 81

chromosome 10, ret proto-oncogene parathyroid phaeochromocytoma Medullary Thyroid cancer

Question 82

features of MEN 2B?

Answer 82

chromosome 10, ret proto-oncogene, tends to occur as sporadic mutations parathyroid phaeochromocytoma medullary thyroid cancer marfanoid habitus mucosal neuromas/ ganglioneuromatosis (pathognomonic)

Question 83

ix of phaeochromocytoma?

Answer 83

- raised 24h urinary collection of catecholamines - CT/MRI adrenals - Metaiodobenzylguanidine MIBG scan of the adrenals, if tumour cannot be localised on CT/MRI - > gold standard, nuclear, functional imaging scan with 100% specificity for phaeochromocytoma

Question 84

management of phaeochromocytoma?

Answer 84

definitive: surgical excision medical: alpha blockade prior to beta blockade (phenoxybenzamine + propranolol) -> need to do this before surgery to avoid hypertensive crisis -> phenoxybenzamine first, then propranolol 3-4 days after

Question 85

purpose of alpha blockade and beta blockade in phaeochromocytoma?

Answer 85

alpha blockade reverses the peripheral vasoconstriction whereas beta blockade prevents tachycardia

Question 86

risk of hypertensive crisis in phaechromocytoma?

Answer 86

risk of hypertensive crisis if surgery conducted without adequate alpha and beta blockade -> leading to high CVA, MI complications

Question 87

DDx of phaeochromocytoma?

Answer 87

insulinoma hyperthyroidism carcinoid syndrome renovascular hypertension paroxysmal SVT anxiety disorder

Question 88

what is carcinoid tumour?

Answer 88

tumour originating from enterochromaffin cells which secrete **5-HT (Serotonin)** as well as other hormones, such as kinins and histamine

Question 89

most common site for carcinoid tumour?

Answer 89

appendix (25%) followed by rectum, terminal ileum less commonly: bronchus, ovary, testis 80% tumours greater than 2cm in diameter will metastasize

Question 90

cardiac lesions in carcinoid tumours?

Answer 90

liver carcinoid metastases result in right sided valvular lesions (TS, PS, TR, PR) bronchial carcinoids metastasize to left side of the heart -> left heart murmurs

Question 91

Carcinoid tumours of the foregut e.g. lung secrete..?

Answer 91

tend to secrete CRF/ACTH -> ectopic Cushing's syndrome also may secrete ectopic GHRH -> Acromegaly may also be assoc MEN type 1 where pancreatic neuroendocrine tumours predominate

Question 92

what is Carcinoid syndrome?

Answer 92

arises when hepatic metastases are present and the tumour products avoid being metabolized by the liver by draining directly into the hepatic vein -> presents with paroxysmal facial flushing, bronchospasm/ wheeze, hypotension/ dizziness, abdo pain, watery diarrhoea, weight loss -> can be assoc right sided heart valve fibrosis and stenosis found in 50% ->> leading to CCF

Question 93

ix carcinoid syndrome?

Answer 93

elevated 24h urinary excretion of 5-hydroxyindoleactic acid (5-HIAA) raised plasma chromogranin A US abdomen to visualize the liver mets

Question 94

mx of carcinoid syndrome?

Answer 94

octreotide (somatostatin analogue)- slows growth of cancer, and production of hormones cyproheptadine (antihistamine); helpful for diarrhoea management is largely palliative, involves reducing the tumour mass by a combination of surgical resection, hepatic artery embolization and rarely, cytotoxic chemotherapy avg survival 5-10 yrs from diagnosis

Question 95

complication of carcinoid syndrome?

Answer 95

pellagra - niacin deficiency: dermatitis, dementia, diarrhoea -> tumour uptake of tryptophan results in reduced nicotinic acid synthesis

Question 96

history taking for carcinoid syndrome?

Answer 96

episodic flushing a/w wheeze, lacrimation, periorbital oedema - ppt by eating, exertion, excitement, alcohol chronic intermittent diarrhoea, abdo pain hypotension, dizziness heart failure symptoms

Question 97

examination of carcinoid tumour?

Answer 97

flushed face telangiectasia cardio -murmurs, heart failure resp- bronchial carcinoid, bronchoconstriction during flushing attacks abdo- hepatomegaly

Question 98

what is Paget's disease?

Answer 98

a chronic progressive disease of increased osteoblastic and osteoclastic activity, resulting in increased bone turnover and abnormal remodeling (rare under 50 yo)

Question 99

clinical features of paget's disease?

Answer 99

relative frequency of bone involvement: pelvis> femur> skull > tibia > vertebrae - weight bearing bones: pain, deformity, pathological fractures - vertebrae: nerve root compression, cord compression - skull: headache, deafness - Cardiovascular: high output cardiac failure, and high pulse due to increased blood flow through pagetoid bones

Question 100

ix of paget's disease?

Answer 100

diagnosis: skeletal survey elevated ALP (increased osteoclastic activity), normal calcium and phosphate elevated urinary hydoxyproline (non specific, from increased bone resorption) skull X-ray fluffy opacities (non-diagnostic). X rays: lytic lesions, thickened cortex, coarse trabeculae

Question 101

Management of Paget's disease?

Answer 101

bisphosphonates (e.g. alendronate, IV pamidronate) calcitonin aim for normalized bone turnover, as indicated by normal ALP levels - f/u 6 monthly ALP levels

Question 102

complications of paget's disease?

Answer 102

osteogenic sarcoma - rare complication, usually humerus, or femur

Question 103

how does PTH work?

Answer 103

rises with hypocalcaemia increases plasma Calcium by: - increasing osteoclastic resorption of bone (rapid effect) - increases intestinal absorption of calcium (slow) - increase in tubular resorption of calcium and increased excretion of phosphate

Question 104

history in Paget's disease

Answer 104

- increase in hat/ head size - hearing loss; may be conductive 2' involvement of ossicles or SN 2' CN VIII compression - nerve entrapment syndromes; radiculopathies, paraparesis 2' spinal vertebral disease - bone pain - joint pain from OA 2' bone disease - painless bowing of the bone - hx of bone fractures with minimal trauma

Question 105

examination in paget's disease

Answer 105

note any hearing aid- KIV rinne, weber's test skull diameter > 55cm spine: kyphosis - auscultate over vertebral bodies for bruits LL bowing of tibia and femur examine hip for limited ROM, and knees for OA (creps) CVS: flow murmur, raised JVP 2' hyperdynamic circulation request for urine dipstick for haematuria 2' renal stones (increased calcium due to bone breakdown)

Question 106

features of primary hyperparathyroidism?

Answer 106

'bones stones abdo groans, psychic moans' unquenchable thrist - polydipsia, polyuria - bone pain/fracture - impaired glucose tolerance - renal stones - peptic ulceration, pancreatitis, constipation, abdo pain - depression - hypertension, cardiac arrhythmias

Question 107

examination in primary hyperparathyroidism

Answer 107

anaemia abdo tenderness old fracture fixation scars, bone deformities DM dermopathy BP for HTN examine for parathyroid adenoma request: ask for polyuria, polydipsia ask for depression

Question 108

primary hyperparathyroidism associations?

Answer 108

MEN 1, II HTN

Question 109

ix for primary hyperparathyroidism

Answer 109

high Ca, low Phosphate high ALP PTH raised or inappropriately normal technetium MIBI / sestamibi scan of parathyroids -> can diagnose parathyroid hyperplasia vs adenoma skull Xray: "pepper pot skull": osteopenia w a speckled appearance

Question 110

causes of hyperparathyroidism

Answer 110

single adenoma 50-80% diffuse hyperplasia 10-40% multiple adenomas 10% parathyroid carcinoma 20%

Question 111

management of Primary hyperparathyroidism?

Answer 111

hyperca: IV fluids +/- furosemide, IV pamidronate (inhibits osteoclastic activity), calcitonin Surgery: partial or total parathyroidectomy Conservative mx: monitor symptoms, renal function, BP yearly, BMD and US kidneys Q2-3 years

Question 112

indications for partial or total parathyroidectomy?

Answer 112

- markedly elevated corrected Calcium > 3mmol/L - impaired renal function - renal stones - nephrocalcinosis - elevated urinary calcium - reduced BMD

Question 113

primary hyperPTH: Calcium/PO4?

Answer 113

Ca high, PO4 low PTH high ALP N or high

Question 114

Secondary hyperPTH: Calcium/PO4?

Answer 114

Calcium low PO4 High PTH high ALP normal or high

Question 115

Tertiary hyperPTH: Calcium/PO4?

Answer 115

Calcium High PO4 low PTH high ALP normal or high

Question 116

Clinical features of panhypopituitarism?

Answer 116

- Hypogonadism: testicular / breast atrophy, loss of axillary hair, gynaecomastia in man, pale soft skin (alabaster skin) - Hyperprolactinaemia: galactorrhoea - Hypothyroidism - Hypocortisolism: postural hypotension - Mass effect: bitemporal hemianopia, optic atrophy

Question 117

History taking for panhypopituitarism

Answer 117

Males: reduced frequency of shaving, impotence, gynaecomastia Female: hx post partum haemorrhage (Sheehan’s), amenorrhoea - Galactorrhoea - Phx of radiation (eg for NPC) or surgery

Question 118

Examination for panhypopituitarism

Answer 118

Expose chest - alabaster skin - radiation scarring - gynaecomastia/ breast atrophy - Loss of axillary hair - test for RAPD and visual field defect - features of hypothyroidism Aetiology: - visual fields for bitemporal hemianopia - fundoscopy for papilloedema - Face for radiation marks or signs - surgical scar marks Request to Examine for testicular atrophy and loss of public hair Postural BP

Question 119

Causes of panhypopituitarism

Answer 119

Pituitary tumour: usually macroadenoma for acromegaly or non functioning tumours Postpartum Necrosis (Sheehan's syndrome) Pit apoplexy (spont infarct or hemorrhage) Craniopharyngioma TB, sarcoid, metastatic Iatrogenic: radiation therapy, surgery

Question 120

Ix of panhypopituitarism?

Answer 120

Bloods - FBC - NCNC anemia - U/E - hypoNa, - Pituitary hormone pdtn: LH/FSH, GH, prolactin, TSH, ACTH - Target gland secretion: Testosterone, estradiol, T4, Cortisol level - Synacthen test - Insulin tolerance test- Needs H/C to be <2.2 mmol/L to be interpreted. Impaired GH response (GH <20 mU/L) & impaired cortisol response (<550 nmol/L) to hypoglycaemia. Imaging - MRI brain Formal perimetry

Question 121

Management of panhypopituitarism

Answer 121

Replace!! - give **steroids FIRST**, then thyroxine replacement (prevent thyroxine induced acceleration of cortisol metabolism from causing Addisonian crisis) - GH replacement parenterally - hypogonadism - testosterone / estradiol replacement - DDAVP tablets or nose spray.-> to control polyuria from lack of ADH * steroid replacement may unmask diabetes insipidus

Question 122

In panhypopituitarism, what hormones are first to decrease in production?

Answer 122

Fail in order of GH > gonadotrophins (FSH/LH) > TSH > ACTH *exceptions- hypophysitis: ACTH and TSH deficiencies are frequently the presenting deficits ** Prolactin deficiency rarely seen, except in Sheehan's syndrome *** ADH deficiency is almost never seen as a primary feature of pituitary adenomas but is a usual presenting manifestation of germ cell tumors, pituitary metastases, and granulomatous disease

Question 123

History taking in addisons disease

Answer 123

- Weakness, lethargy, fatigue, LOA and LOW - Postural hypotension / dizziness - Nausea / vomiting, abdo pain - Hyperpigmentation: Crease of the palms, mouth and lips, Nipples, belt straps, rings - Sparse axillary hair, pubic hair - Depression Associations: vitiligo, polyglandular (hypoparathyroidism, DM, thyroid), autoimmune diseases DDx - Nelson's syndrome = look for abdominal scar and visual field, Liver, renal

Question 124

Examination for addisons disease

Answer 124

Question 125

Ix for addisons disease

Answer 125

- hyponatraemia, hyperk, hyperCa, elevated urea, metab acidosis, hypoglycaemia. - FBC: a/w NCNC anaemia, neutropenia, eosinophilia, lymphocytosis. Also, abnormal LFTs • diagnosis: short Synacthen test (poor response of <600 nmol/L) If short Synacthen test positive, Confirm level - ACTH & cortisol levels: high 9am ACTH + normal/low cortisol levels - Prolonged ACTH test: Will respond if there is suppression by exogenous steroids or ACTH deficiency - adrenal Antibodies Imaging (if adrenals are cause) • AXR (adrenal calcification) • CT adrenals • CXR: TB

Question 126

How does prolonged acth stimulation test differentiate between different causes of Addisons

Answer 126

In primary adrenal insufficiency where adrenal glands are partially or completely destroyed: there is no response to ACTH In secondary or tertiary adrenal insufficiency, There will be some increase in cortisol secretion following prolonged stimulation with ACTH.

Question 127

Management of Addisons disease

Answer 127

- Replace steroids: Fludrocortisone, Hydrocortisone • Steroid card • PT education: treatment compliance and stress dose steroids during illnesses

Question 128

Causes of Addisons disease

Answer 128

- autoimmune: 21 hydroxylase antibodies - ТВ - Mets - HIV

Question 129

Causes of hyperpigmentation

Answer 129

- Addison's, Nelson's, ectopic ACTH - Liver: PBC, hemochromatosis - uraemia - Race, suntan - Porphyria cutanea tarda

Question 130

Addison’s disease associated conditions?

Answer 130

- Graves, Hashimoto, Pernicious anemia Autoimmune polyglandular syndromes: • Type 1: Addison's, hypoparathyroid, chronic mucocutaneous candidiasis • Type 2: Addison's, DM, thyroid disease (hyper or hypo)

Question 131

Types of neurofibromatosis?

Answer 131

Type 1 - chromosome 17 (neurofibromin which is a tumour suppressor gene) - 90% of all NF - freq 1 in 4000 • Type 2 - Chromosome 22 (mutation of merlin, a tumor supp gene) - 10% of all NF - freq 1 in 45000 Autosomal dominant mutation, penetrance 100%, if parent affected, child has 50% chance of being affected 50% spontaneous mutation

Question 132

Causes of Hypothyroidism?

Answer 132

- Autoimmune: Hashimoto's thyroiditis - MNG - Dietary deficiency of iodine (rare in S'pore) - Drugs: amiodarone, lithium, anti-thyroid drugs - iatrogenic: Post radioactive iodine, Previous thyroidectomy - Secondary causes: panhypopituitarism

Question 133

History taking in hypothyroidism

Answer 133

History: Cold intolerance Dry skin Hair loss Hoarse husky voice Lethargy Weight gain despite LOA Constipation PV: menorrhagia, infertility PSY: depression, dementia peripheral neuropathy, muscle cramps Complications: Carpal tunnel syndrome CVS exam: heart failure, pericardial effusion / pericarditis PHX: Prev radioiodine Rx/ surgery - Hyperlipidaemia, angina, HTN - other autoimmune condition: Addison's dz, DM, Graves' dz, pernicious anaemia, RA, Sjogren's, SLE, ulcerative colitis, hemolytic anaemia, hypoPTH Med Hx / TCM • Lithium / amiodarone FMHX of autoimmune disease Thyroid dz, pernicious anaemia, DM, pri adrenal insufficiency EtOH / smoking Job/ ADL

Question 134

Examination for hypothyroidism?

Answer 134

General appearance: Coarse, dry skin ("peaches & cream" complexion) Large body habitus Hands / UL: 'Dirty elbow & knees' sign Tinel's sign Slow pulse Proximal myopathy Face: Puffy lower eyelids Loss of outer third of eyebrows Xanthelasma Neck: • Goitre - firm & lobulated in Hashimoto Previous thyroidectomy scar Lower limb: • Pitting edema Wish list • BP for HTN - CVS exam for heart failure, pericardial effusion / pericarditis - Neuro exam: Delayed relaxation of ankle jerk, Cerebellar signs

Question 135

Features of hashimoto’s thyroiditis

Answer 135

- autoimmune: positive anti- TPO antibodies - common in middle aged women - goitre - may cause transient thyrotoxicosis in acute phase - associated w family hx of thyroid disease or other autoimmune disease eg type 1 DM or Addisons

Question 136

Features of primary atrophic hypothyroidism?

Answer 136

autoimmune disease, associated with IDDM, Addison's or pernicious anaemia

Question 137

Features of secondary hypothyroidism

Answer 137

- pituitary failure - a/w Down's & Turner's syndromes, coeliac disease

Question 138

What is sick euthyroid

Answer 138

seen in unwell patients who are clinically euthyroid but have low levels of T3 and T4. TSH usually normal. Very common Seen in up to 70% hospitalized patients No need tx Recheck TFTs few months after acute illness

Question 139

What is Riedel’s thyroiditis?

Answer 139

- Stone-hard thyroid gland fixed to adjacent structure: dense fibrosis of normal thyroid parenchyma invading adjacent structures of the neck, extending beyond the thyroid capsule. • **Most are clinically euthyroid, 30% hypothyroid**, few are hyperthyroid.

Question 140

Features of myxoedema coma

Answer 140

Presents w cold intolerance Weight gain Lethargy / AMS Constipation Coarsening facial features Hair thinning Periorbital oedema Hypotensive Bradycardia May coexist with Hypoadrenalism and hypoglycaemia - need to provide iv hydrocortisone until concomitant Addisons disease is ruled out as isolated thyroxine replacement will worsen Addisonian crisis

Question 141

Treatment of myxoedema coma

Answer 141

Iv thyroxine Slow re warming Iv hydrocortisone for concurrent hypoadrenalism Cautious IV hydration as patients are usually in fluid overload

Question 142

Significance of subclinical hypothyroidism

Answer 142

Risk of progression to overt hypothyroidism is 2-5% per year (higher in men) Risk increased by presence of thyroid autoantibodies

Question 143

When to treat subclinical hypothyroidism

Answer 143

Treat if: - TSH >10 - thyroid autoantibodies positive - other autoimmune disorder - previous tx of Graves’ disease

Question 144

Treatment in amiodarone induced hypothyroidism

Answer 144

Occurs due to the high iodine content of amiodarone causing a Wolff-Chaikoff effect Amiodarone may be continued if this is desirable Replace with thyroxine

Question 145

Mx of hypothyroidism

Answer 145

- starting dose of levothyroxine should be lower in elderly and IHD pts (e.g. 25-50 mcg/day) - recheck TFTs after 6-8 wks if thyroxine dose is changed - therapeutic goal is normalisation of TSH level: target 0.5-2.5 mU/l no evidence to support combination therapy with levothyroxine and liothyronine

Question 146

Side effects of thyroxine therapy

Answer 146

Hyperthyroidism: over treatment Reduced bone mineral density Worsening of angina Atrial fibrillation

Question 147

Lab changes in hypothyroidism

Answer 147

Hypercholesterolaemia Hypona Anaemia Elevated CK and LDH Hyperprolactinaemia

Question 148

What is Graves’ disease

Answer 148

Autoimmune disease Excessive stimulation of TSH receptor on the thyroid cell membrane Results in excessive synthesis and secretion of thyroid hormone 2% in women and 0.2% in men (2-4th decades)

Question 149

Ix of patients with Graves’ disease

Answer 149

Confirm diagnosis - TSH levels - free thyroxine levels - autoantibodies: TSH receptor Ab, anti-thyroid peroxidase Ab, anti-thyroglobulin, Thyroid stimulating Ig Radionuclide scan can help to differentiate between graves and autoimmune thyroiditis: graves - diffuse uptake, autoimmune thyroiditis- no/ low uptake If ophthalmopathy present: CT or MRI orbits to rule out retrobulbar tumour or AVM esp in unilateral exophthalmos

Question 150

Ix of patient with multinodular goitre

Answer 150

Activity assessment- TSH, T4 Imaging- US thyroid to see if goitre cystic or solid, CT neck to look for obstruction Radionuclide scan to look for “hot nodule”- if cold nodule, FNAC required

Question 151

Mx of Graves’ disease

Answer 151

Medical therapy: - symptomatic treatment with propranolol - carbimazole, methimazole and propylthiouracil (all inhibit TPO and hence thyroid hormone synthesis) Radio-iodine Thyroidectomy

Question 152

How long would you treat with medications in Graves’ disease

Answer 152

Usually for 12-18 months After which 30-40% will remain euthyroid If recurs, likelihood of remission on meds is low

Question 153

Differences between different anti thyroid meds for Graves’ disease

Answer 153

Propylthiouracil useful in crisis as inhibits conversion of fT4 to fT3 along w inhibition of TPO Carbimazole and Methimazole - once daily dosing so fewer tablets

Question 154

SEs of anti thyroid meds

Answer 154

Minor adverse effects - fever rash urticaria arthralgia Major (CMZ and MTZ are dose related, PTU is not) - agranulocytosis (advise to stop drug if develops fever, sore throat, mouth ulcers) - severe hepatotoxicity - vasculitis (PTU may induce ANCA assoc vasculitis) - drug induced lupus

Question 155

Contraindications for radio iodine

Answer 155

Pregnancy Breast feeding Children and adolescents Need to avoid pregnancy 4 months after

Question 156

Efficacy of radio iodine

Answer 156

90% will become euthyroid within 2 months

Question 157

Side effects of radioiodine therapy

Answer 157

- Almost all will become hypothyroid - neck pain - worsened thyrotoxicosis for several days post treatment - worsening of thyroid eye disease (administration of glucocorticoids can prevent worsening)

Question 158

Any way to prevent or reduce risk of worsening thyrotoxicosis post radioiodine treatment?

Answer 158

Prevention with carbimazole / methimazole pre treatment for 1-2 months and stopped 3-5 days before treatment (try not to use PTU as this decreased efficacy of radioiodine tx)

Question 159

Tx of radioiodine induced worsening thyrotoxicosis post treatment?

Answer 159

Observe if mild or treat w beta blockers Should not give antithyroid meds unless severe or expected to be severe due to poor control at the time of radioiodine administration

Question 160

What subset of patients are at higher risk of developing worsening thyroid eye disease with radioiodine tx?

Answer 160

Smokers, severe hyperthyroidism

Question 161

Indications for thyroidectomy in Graves’ disease

Answer 161

Cancer Compression Cosmesis

Question 162

Side effect/ risk of thyroidectomy

Answer 162

Recurrent laryngeal nerve injury HypoPTH

Question 163

Mx of multinodular goitre

Answer 163

Beta blockers to control thyrotoxicosis Warfarin if in AF render euthyroid with thionamide (PTU, carbimazole) As spontaneous remission does not occur, ablative therapy required - obstruction: surgical - non obstructive: radio iodine

Question 164

Mx of toxic adenoma causing hyperthyroidism

Answer 164

Render euthyroid w thionamide (PTU, carbimazole) Radio iodine: hypothyroidism side effect is less compared to Graves’ disease as the toxic adenoma suppresses the other thyroidal tissue Surgical- lobectomy

Question 165

Mx of subacute thyroiditis causing hyperthyroidism?

Answer 165

Should not tx w thionamides Tx w propranolol, aspirin, NSAIDs, glucocorticoids

Question 166

Tx of graves eye disease

Answer 166

General measures: - maintain euthyroid - stop smoking - dry eyes and exposure keratitis: artificial tears, tarsorrhaphy - diplopia: prism glasses, surgery to EOM For severe disease with visual loss: - high dose glucocorticoids (40-80mg OM then taper over 3 months) - orbital irradiation - surgical orbital nerve decompression if no improvement Stable disease: Surgery for lid retraction, exophthalmos or diplopia

Question 167

What are the clinical signs specific to Graves’ disease?

Answer 167

Graves ophthalmopathy Pretibial myxoedema Thyroid acropachy Diffuse goitre Lymphoid hyperplasia

Question 168

What is graves ophthalmopathy

Answer 168

- oedema and inflammation of the extraocular muscles due to infiltration by lymphocytes and macrophages - increase in orbital connective tissue and fat Can occur pre, during or post diagnosis of hyperthyroidism

Question 169

Risks for more severe thyroid eye disease

Answer 169

Smokers, elderly males Post radio iodine tx Severe hyperthyroidism

Question 170

How to assess activity of the eye disease

Answer 170

Retrobulbar pain Pain on eye movement Eyelid erythema Conjunctival injection Chemosis Swelling of the caruncle Eyelid oedema Proptosis Reduced VA eye movements affected

Question 171

What is pretibial myxoedema

Answer 171

Specific feature of Graves’ disease - lymphoedema type: symmetrical well defined waxy and shiny peau d’orange appearance. red but not inflamed, swollen but not oedematous - nodular type - plaque type Occurs on the shins, anterior lateral aspects

Question 172

Signs of hyperthyroidism?

Answer 172

Resting tachycardia Sweaty palms Tremors Hyperreflexia Thyroid bruit

Question 173

What are the causes of hyperthyroidism

Answer 173

Primary: - graves - toxic MNG (Plummers disease) - toxic adenoma - de quervains thyroiditis - post partum thyroiditis Secondary: - pituitary - struma ovarii, hydatidiform mole or choriocarcinoma (ectopic TsH) Exogenous: - over treatment w thyroxine - factitious - drug induced: lithium, amiodarone

Question 174

Types of amiodarone induced thyrotoxicosis

Answer 174

Type 1: iodine induced thyroid synthesis Tx-> carbimazole + K perchlorate, then radioiodine/ surgery when stable type 2: destructive thyroiditis. rx steroids and anti thyroid drugs. May cause hypothyroidism

Question 175

DDx of swellings in the neck midline

Answer 175

Thyroid gland which rises on swallowing Thyroglossal cysts which also rise on swallowing but also moves on sticking out the tongue Submental LNs

Question 176

DDx of lateral neck swellings

Answer 176

LNs Salivary glands Cystic hygroma Pharyngeal pouch Skin- sebaceous cysts or lipoma

Question 177

How would you grade the goitre (thyroid)

Answer 177

WHO grading Grade 0: not palpable or visible Grade 1A: palpable goitre Grade 1B: palpable and visible only on neck extension Grade 2: visible goitre at primary position Grade 3: obvious goitre from a distance

Question 178

What is pembertons sign?

Answer 178

Elicited by asking pt to lift arms above head Development of plethora, cyanosis, inspiratory stridor, respi distress and distension of neck veins Test for thoracic inlet obstruction due to retrosternal mass

Question 179

How do you differentiate between thyroid acropachy and HPOA?

Answer 179

Radiographically - thyroid acropachy new bone formation has soap bubbles appearance on the bone surface w coarse spicules - HPOA new bone formation in a linear distribution

Question 180

What are the associated clinical conditions w Graves’ disease

Answer 180

- DM - vitiligo - pernicious anaemia - Addisons disease - myasthenia Gravis - Alopecia areata

Question 181

What is T3 thyrotoxicosis

Answer 181

Hyperthyroid symptoms and signs Normal fT4 but elevated T3

Question 182

What is sick euthyroid

Answer 182

Occurs in severe illness or physical trauma Decreased peripheral conversion of T4 to T3, decreased thyrotrophin secretion, decreased production of thyroid hormones Low fT4/t3 and inappropriately low TSH

Question 183

TSH receptor antibody assoc w?

Answer 183

Graves’ disease - positive in >90%

Question 184

Anti thyroid peroxidase and anti TG (thyroglobulin) antibodies assoc w ?

Answer 184

Graves, Hashimotos, silent thyroiditis, post partum thyroiditis

Question 185

Anti microsomal antibody assoc w?

Answer 185

Hashimotos thyroiditis Post partum thyroiditis

Question 186

Thyroid stimulating Ig assoc w ?

Answer 186

Test only when Graves suspected but all other ab neg Assoc graves (<3%)

Question 187

history taking in hyperthyroidism?

Answer 187

- tremor - heat intolerance, sweating - tachycardia - diarrhoea - weight loss + increased appetite - oligomenorrhoea - neuro: proximal myopathy, periodic paralysis - fatigue - psychosis, irritability complications - thyroid eye disease: ophthalmoplegia, chemosis - mediastinal mass: dyspnoea, swallowing impairment - palpitations/ AF - heart failure: SOB - osteoporosis

Question 188

examination in hyperthyroidism?

Answer 188

general appearance: thin fidgety choreoathetoid movements vitiligo hands/UL: arms stretched out: tremors, thyroid acropachy, onycholysis - sweaty palms - palmar erythema - measure pulse for AF or Sinus tachy - proximal weakness eyes/ neck: - chemosis, keratitis, prominent caruncle - tarsorrhaphy - lid erythema and periorbital oedema - exophthalmos and lid retraction - thyroidectomy scar - if present, watch out for scar over deltoid/arm (for PTH implant) move: - lid lag - EOM to look for ophthalmoplegia walk to patients back: - observe for proptosis - palpate for goitre: swallow, stick out tongue - listen for thyroid bruit - percussion of sternum - cervical LNs - +/- pembertons sign - +/- palpate for tracheal deviation and SCM weakness on MNGs Listen to lung bases Lower limbs: pretibial myxoedema reflexes for hyperreflexia

Question 189

thyroid examination: how to complete your examination?

Answer 189

if there is a thyroid scar, request to perform trousseaus sign + chvostek's for hypoPTH, assessment for hoarseness of voice CV exam: - CCF, lung bases - wide pulse pressure abdo exam: may reveal hepatosplenomegaly in graves disease

Question 190

on presentation of goitre/ multinodular goitre, what are some important positive/ negatives?

Answer 190

- painful or not, nodular or not - palpable cervical LNpathy - retrosternal extension - complications of ophthalmoplegia, AF, mass effect (stridor, SVCO), heart failure if in AF, no obvious complications of anticoag (bleeding) or obvious hemiplegia (stroke)

Question 191

how would you counsel a young woman with thyrotoxicosis who wishes to be pregnant?

Answer 191

ideally, pregnancy should be avoided until hyperthyroidism is adequately treated because rate of feta loss is high if it occurs/ recurs during pregnancy: treat with PTU during 2nd trimester: can also be safely mx with surgery in 3rd trimester: TSH levels drops and remission of hyperthyroidism occurs, stopping meds is possible then

Question 192

risks to fetus in hyperthyroid mothers

Answer 192

1-5% fetuses may be hyperthyroid resulting in IUGR and tachycardia

Question 193

anti-thyroid drugs in lactating mothers?

Answer 193

can use up to 750mg/d PTU or 20mg Carbimazole

Question 194

combination therapy of PTU and thyroxine in pregnancy?

Answer 194

contraindicated because PTU passes placenta but thyroxine doesnt, resulting in fetal hypothyroidism

Question 195

features of peutz jegher syndrome

Answer 195

auto dom condition mucocutaneous melanosis + GI hamartomas (Polyposis) esp in small bowel GI manifestations: overt bleeding, Fe deficiency anaemia intussuception with intestinal obstruction very rarely polyps undergo malignant transformation (10-20% risk of gastric Ca)

Question 196

what malignancy is peutz jegher syndrome assoc w?

Answer 196

increased incidence of - stomach, duodenum - breast - lung - pancreas malignancies

Question 197

examination findings in peutz jegher syndrome?

Answer 197

mouth: multiple small brown/ black pigmented macules around lips, peri oral region and buccal mucosa (never on tongue) eyes: conjunctival pallor (GI blood loss) hands: pigmented macules on palms, fingers abdomen: look for scars to suggest previous surgery for intestinal obstruction

Question 198

examination in peutz jegher: how to complete your examination

Answer 198

PR exam for bleeding family history for similar lesions (Auto dominant mode of inheritance)

Question 199

diagnostic criteria of NF1?

Answer 199

at least 2 out of 7 criteria: - **f**ibroma: >=2 Neurofibromas or >=1 plexiform neurofibroma - **i**ris hamartoma - >=2 Lisch nodules - **B**one lesions: e.g. sphenoid dysplasia (pulsating proptosis, kyphoscoliosis, tibial pseudoarthroses, thinning of cortex of long bones of body e.g. bowing of legs) - **R**elative - 1 or more first degree relative - **O**ptic glioma - **M**acules - >= 6 cafe au lait spots, each >15mm in greatest diameter (light brown pigmented macules) - **A**xillary freckles

Question 200

diagnostic criteria for NF2

Answer 200

either - bilateral CN VIII palsy/ acoustic neuromas on CT/MRI or - first degree relative with type 2 and either: unilateral eighth nerve mass or >=2 lesions: neurofibroma, glioma, schwannoma, meningioma, juvenile posterior subcapsular lenticular opacity

Question 201

lisch nodules?

Answer 201

melanocytic hamartomas of the iris that appera as well-defined, dome-shaped elevations projecting from the surface of the iris which are yellow or brown in color incidence increases with age and by 20 years, 100% have them

Question 202

what are the possible causes of hypertension in NF?

Answer 202

renal artery stenosis phaeochromocytoma coarctation of the aorta

Question 203

what are the histology of the skin tumours in NF?

Answer 203

schwannomas neurofibromas

Question 204

Diagnosis of NF?

Answer 204

diagnosis is clinical

Question 205

management of neurofibromatosis?

Answer 205

most do not require treatment manage complications: - treat hypertension - excise painful or disfiguring neurofibroma - radiation of optic glioma - orthopaedic surgical management of kyphoscoliosis and bowing of tibia education and genetic counselling: if family has history of type 2, others should be screened with hearing tests and brainstem auditory evoked response

Question 206

associations and complications of nuerofibromatosis?

Answer 206

childhood leukaemia CNS complications sarcomatous changes bony complications lung cysts hypertension: coarctation of aorta, renal artery stenosis, phaeochromocytoma (5%)

Question 207

bony complications assoc neurofibromatosis?

Answer 207

interosseous bone cysts bowed legs 2' thinning of the cortices of long bones pseudoarthrosis of the tibia rib notching sphenoidal dysplasia

Question 208

CNS complications of Neurofibromatosis?

Answer 208

mental retardation epilepsy obstructive hydrocephalus 2' stenosis of aqueduct of sylvius optic gliomas, acoustic neuromas, meningiomas retinal hamartomas cord compression/ spinal nerve root involvement

Question 209

What is tuberous sclerosis?

Answer 209

Auto dominant neurocutaneous disorder resulting in systemic hamartomas in CNS, retina, skin and viscera - Mutation involve chromosome 9 and 16 - also has High sporadic mutation rate of 66%

Question 210

Features of tuberous sclerosis

Answer 210

- Hx of epilepsy or seizures - FHx - Aut dominant - adenoma sebaceum (angiofibroma), ash leaf macule, Shagreen patch - subungal fibroma - cortical tubers, subependymal hamartomas - epilepsy - renal angiomyolipoma: possible malignant change to RCC - cardiac rhabdomyoma: AD, chromosome 9 and 16

Question 211

Examination of tuberous sclerosis?

Answer 211

**Face** - adenoma sebaceum (angiofibromas distributed in a butterfly pattern over the cheeks, chin and forehead (dy/dx acne, Cushingoid?) **Chest and back** - Shagreen patches (leathery thickenings localised patches over the lumbosacral region, trunk) - Ash-leaf hypopigmentation (hypopigmented macule which is the earliest and most characteristic finding) - Café-au-lait macules **Hands** - subungal fibromata **Systemic** - CVS: CCF and arrythmias, cardiac rhabdomyomas - Resp: fibrosis/ lymphangiomyomatosis (lungs) - Abdomen: polycystic kidneys, renal angiomyolipomas, with malignant change to RCC - CNS : retinal harmatomas, may develop obstructive hydrocephalus from subependymal nodules.

Question 212

Mx of tuberous sclerosis

Answer 212

- Education, Genetic Counselling - Rx seizures, survellience for CNS and intra-abdo tumours

Question 213

Features of Sturge Weber syndrome?

Answer 213

Hx - seizures, hemiparesis (usually opp side of port wine stain), hemisensory, low IQ Signs - Port wine stains in V1 and V2 distribution - Hypertrophy of area involved - Hemangiomas of the iris - Fundus for choroidal haemangiomas Assoc seizures, headache, developmental delay, retinoblastoma, glaucoma, hemianopsia, hemiparesis

Question 214

Ix in sturge Weber?

Answer 214

Skull XR tramline calcification parietal-occipital lobe CT/MRI brain: screen for intracranial leptomeningeal angiomatosis (usually same side as port wine stain) -> gradually results in calcification of the underlying brain and atrophy of the affected region

Question 215

Management of Sturge Weber syndrome

Answer 215

Symptomatic control Seizures control- AEDs or surgical management Skin - photothermolysis (laser tx for port wine stain) Eye - screen for glaucoma and treat glaucoma accordingly (eye drops latanoprost , surgery) and Mx choroidal angiomas

Question 216

History taking in Neurofibromatosis

Answer 216

- Onset of cutaneous features - Poor vision (glioma) - Diplopia - Hearing loss (acoustic neuroma) - Limb weakness / numbness (cord / nerve root compression) - Intellectual impairment - highest education - Phaeo - episodic palpitations/ elevated BP / anxiety / diaphoresis / HA **PMH** HTN - esp if poorly controlled CVA (ICH) Intracranial ops / VP shunt insertion Epilepsy Coarctation requiring surgery Childhood leukaemia **FMHX** • NF in first degree relative

Question 217

What are some neurocutaneous conditions?

Answer 217

Tuberous sclerosis Neurofibromatosis Sturge Weber syndrome von hippel Lindau

Question 218

major causes of type 1 (distal) renal tubular acidosis?

Answer 218

idiopathic familial secondary: autoimmune disorders: sjogren's, SLE, RA, autoimmune hepatitis, PBC Drugs: lithium, amphotericin B, ibuprofen hypercalciuric conditions: hyperPTH, vit D intoxication, Sarcoidosis, idiopathic hypercalciuria other: renal transplant rejection, obstructive uropathy, wilson disease

Question 219

what urine K/Cr ratio is suggestive of Renal urinary losses?

Answer 219

Urine K/Cr > 1.5

Question 220

causes of hypoK?

Answer 220

GI losses: vomiting, diarrhoea, laxatives, GI malignancy Renal losses Transcellular shifts: - drugs: B agonists, IV insulin, theophylline, chloroquine - periodic paralysis - anabolism: tx of pernicious anaemia, rapidly growing leukaemia and lymphoma

Question 221

hypoK with renal losses + Acidosis

Answer 221

Type 1 renal tubular acidosis (assoc renal stones, nephrocalcinosis): - autoimmune diagnosis e.g. SLE/ Sjogrens/ RA - Glue sniffing - Drugs e.g amphotericin Type 2 proximal renal tubular acidosis: - familial and acquired Fanconi's (tenofovir, adefovir) - myeloma

Question 222

HypoK with renal loss of K + Alkalosis?

Answer 222

BP normal: - urine Ca/Cr ratio > 0.20 = Loop diuretic, bartter - urine Ca/Cr ratio <0.15 = thiazide, gitelman's BP high: - Aldosterone high, renin low: Hyperaldosteronism (conns) - Aldosterone high, renin high: Phaeochromocytoma, Renin producing tumour, Renal artery stenosis - Aldosterone low, renin low: Cushings, Liquorice excess, liddle's, CAH

Question 223

Approach to hyperlipidaemia?

Answer 223

ask for secondary causes: - thyroid, nephrotic syndrome, liver disease, drugs: TCM, atypical antipsychotics CVRF: FHx, smoking, DM, HTN Complications; IHD, CVA, PVD assess if possible family history: hx of premature IHD, HLD, xanthomas, genetic mutation

Question 224

physical examination of hyperlipidaemia?

Answer 224

xanthomas xanthelasma corneal arcus CABG scar

Question 225

treatment of hyperlipidaemia?

Answer 225

discuss with patient about genetic testing lifestyle modifications medications: statins, ezetimibe, PCSK9i e.g. evolucumab

Question 226

pituitary hormones produced from anterior pituitary?

Answer 226

GnRH from hypothalamus -> FSH/ LH CRH -> ACTH TRH -> TSH PRH -> Prolactin GHRH -> GH

Question 227

clinical features of hyperprolactinaemia?

Answer 227

galactorrhoea gonadal dysfunction: - a/oligomenorrhoea, infertility - impotence, reduced libido secondary osteoporosis symptoms related to compression: visual field defect cranial nerve deficits hypopituitarism

Question 228

what cranial nerves may be affected in pituitary gland enlargement

Answer 228

Question 229

what is hook effect in prolactinoma?

Answer 229

hook effect is observed in immunological tests, such as when measuring serum levels of prolactin, where the results can be falsely low due to excessive antibody saturation. level of prolactin is so high -> exceeds the binding capacity of the antibodies used -> to overcome this: repeat assay after 1:100 sample dilution

Question 230

why is it important to exclude adrenocortical insufficiency prior to treating hypothyroidism?

Answer 230

initiation of thyroxine replacement therapy accelerates cortisol metabolism and increases the requirement for glucocorticoids and may precipitate an addisonian crisis -> thus, replace glucocorticoids before T4

Question 231

what is used to guide therapy for hyperthyroidism?

Answer 231

free T4 -aim levels of ~15

Question 232

secondary adrenocortical insufficiency: do you need to give fludrocortisone replacement?

Answer 232

not required central cause of adrenocortical insufficiency does not cause mineralocorticoid deficiency (renin-aldosteroid system still intact) can just give IV hydrocortisone then convert to PO hydrocortisone

Question 233

why does unmasking of diabetes insipidus occur when corticosteroid replacement is initiated in a patient with pituitary macroadenoma?

Answer 233

glucocorticoids are necessary for the kidneys to excrete salt and free water, so symptoms of cranial DI may be masked by concomitant ACTH deficiency -> polyuria becomes apparant when corticosteroid replacement is instituted

Question 234

what is hypokalaemic periodic paralysis

Answer 234

recurrent attacks of skeletal muscle weakness with associated hypokalemia usually precipitated by high carb diet or strenuous exercise, or alcohol

Question 235

management of thyrotoxic periodic paralysis?

Answer 235

restoration of euthyroidism avoid precipitating factors e.g. high carb load, heavy exercise, alcohol In acute attacks: K replacement Propranolol

Question 236

why check for RAPD in thyroid eye disease?

Answer 236

compressive optic neuropathy

Question 237

what to examine for in thyroid eye disease - > to look for compressive optic neuropathy?

Answer 237

pupils for RAPD fundoscopy for disc swelling

Question 238

what are markers of severity of thyroid eye disease that would warrant urgent eye referral?

Answer 238

sight-threatening complications - RAPD: compressive/ glaucoma - exposure keratopathy

Question 239

what are some signs of mild thyroid eye disease?

Answer 239

only having eyelid signs, mild proptosis

Question 240

what are some signs of moderately severe thyroid eye disease?

Answer 240

mainly restrictive myopathy (diplopia)

Question 241

what are signs of activity of thyroid eye disease which warrants early referral to ophthalmologist?

Answer 241

- lid redness/ oedema - conjunctival redness/ chemosis - retrobulbar pain at rest - superior limbic keratoconjunctivitis

Question 242

Management of thyroid eye disease?

Answer 242

Refer to ophthalmologist (immediate if sight threatening, early if affecting life) STOP smoking lubricant eye drops eye occlusion/ prism correction if diplopia at primary gaze sleep with head elevated restore euthyroidism medical management if active disease urgent surgical decompression if severe sight-threatening disease

Question 243

medical management in active thyroid eye disease? (clinical activity score >/=3/7)

Answer 243

IV or oral steroids (usually IV methylpred 1g OM x 3/7) orbital radiation if steroids contraindicated other immunosuppressive therapy e.g. MTX for long term control

Question 244

when is surgical correction indicated in thyroid eye disease if inactive?

Answer 244

- orbital wall decompression surgery - squint surgery for restrictive myopathy - lid surgery for lid retraction

Question 245

increased thirst or urination/ frequency, what conditions to think of and exclude?

Answer 245

hypercalcaemia diabetes insipidus (psychogenic, cranial, nephrogenic) diabetes mellitus

Question 246

what physical examination to perform in patient with increased urinary frequency, thinking of DI/ DM/ Hypercalcaemia?

Answer 246

- examine neck (PTH) - examine visual fields (cranial DI) - focused examination of abdomen - offer postural BP

Question 247

causes of cranial Diabetes insipidus?

Answer 247

SOL AI disorders: sjogrens infections e.g HIV/TB sarcoid

Question 248

common causes of nephrogenic DI?

Answer 248

lithium hyperCa HypoK

Question 249

examination of patient with suspected atypical femoral fracture 2' bisphosphonate use?

Answer 249

- identify leg length discrepancy - lower limb examination: Hip ROM, neurovascular status of the limb - no blue sclera/ other features of osteogenesis imperfecta

Question 250

ix of patient with suspected atypical femoral fracture 2' bisphosphonate use?

Answer 250

x rays of hip/ pelvis vit D levels, Renal function, TFT, Calcium phosphate PTH

Question 251

what is osteogenesis imperfecta?

Answer 251

generalised connective tissue disorder associated with low bone mass, bone fragility and increased susceptibility to fractures due to autosomal dominant mutations in genes encoding for type 1 collagen

Question 252

types of osteogenesis imperfecta?

Answer 252

type 1: blue sclera, late onset hearing loss, teeth seem normal type 2: perinatal lethal form type 3: progressive deforming variety type 4: white sclera, short statues, bone deformity and dentinogenesis imperfecta (translucent, discolored teeth) - more severe than type 1, but less than type 2 and 3

Question 253

important history points to ask patient for when suspecting osteogenesis imperfecta?

Answer 253

- family history - progressive deforming? - cardiopulmonary function ok?

Question 254

physical examination to note in patient with suspected osteogenesis imperfecta?

Answer 254

- short stature (type 4), near normal (type 1) - blue sclera (type 1), white sclera (type 4) - teeth discolored/ translucent (type 4) or normal - hearing loss? (type 1) - bone deformities? e.g chest wall deformities, scoliosis, long bones

Question 255

definition of atypical femoral fracture?

Answer 255

must be located along femoral diaphysis from just distal to lesser trochanter to just proximal to supracondylar flare + should satisfy at least 4/5 major features: 1. minimal/ no trauma 2. fracture line originates at lateral cortex and is substantially transverse in its orientation 3. complex fractures extend through both cortices; incomplete #s involve only lateral cortex 4. non or minimally comminuted 5. localised periosteal or endosteal thickening of lateral cortex at femoral site

Question 256

management of atypical femoral fracture assoc w long term bisphosphonate use?

Answer 256

- stop potent anti-resorptives - optimize calcium, vitamin D status - prophylactic nail reconstruction for incomplete fractures accompanied by pain - 2-3 month trial of conservative mx if minimal pain, with limited weight bearing can switch to teriparatide

Question 257

management of osteogenesis imperfecta?

Answer 257

symptom based, no cure general musculoskeletal interventions/ rehab: PTOT, muscle strenghthening exercises, ambulation aids, orthotics to compensate for joint laxity and muscle weakness, avoid injuries, adaptive equipment to promote independence orthopaedic management pharmacological therapy

Question 258

pharmacological therapy indicated for management of osteogenesis imperfecta?

Answer 258

bisphosphonate therapy improves bone microarchitecture, bone mass, long bone bowing deformity and restore vertebral size and shape however, does not improve scoliosis or anti-fracture efficacy

Question 259

orthopaedic management of osteogenesis imperfecta?

Answer 259

upper extremity surgery: elastic rods or kirschner wires are best implants lower extremity surgery: realignment with osteotomies with intramedullary rodding avoid plates and screws- increase risk of fractures

Question 260

general management of osteogenesis imperfecta?

Answer 260

adequate intake of calcium maintenance of vit D levels continued mobility watch for extra skeletal manifestation: 1) pulmonary: restrictive lung disease 2' scoliosis/ rib fractures 2) cardiac: aortic root dilatation, left sided valvular regurgitation. regular TTE. 3) bleeding: vessel fragility, plt dysfunction, ICH 4) hearing loss: 50%, conductive HL 2' bony changes KIV refer for hearing aids, cochlear implant 5) Dental: greyish yellow brown discoloration 2' defective abnormal dentin shining through translucent enamel. enamel frequently fractures -need meticulous oral hygiene and caries prevention

Question 261

first line mx of osteogenesis imperfecta to improve BMD, reduce # risk?

Answer 261

bisphosphonates - long term tx can be assoc w atypical femoral fractures - in event of complications, change to teriparatide - can also consider denosumab after 2 years tx with teriparatide (in pt with AFF 2' longterm bisP therapy)

Question 262

can you stop denosumab abruptly?

Answer 262

no, bridge with bisphosphonate to reduce risk of rebound fractures

Question 263

level of total cholesterol and LDL in diagnostic criteria for familial hypercholesterolaemia?

Answer 263

Total cholesterol > 7.5 mmol/L LDL > 4.9 mmol/L

Question 264

what family history is considered significant and is part of diagnostic criteria for familial hypercholesterolaemia?

Answer 264

family history of MI < 50 yo in 2nd degree relative, or before 60 yo in first degree relative

Question 265

what genes are implicated in familial hypercholesterolaemia and in the simon broome diagnostic criteria?

Answer 265

mutation in LDLR, PCSK9 or APOB gene

Question 266

what examination finding is significant and part of diagnostic criteria for familial hypercholesterolaemia?

Answer 266

tendinous xanthomata

Question 267

physical examination in hypocalcaemia 2' allbrights hereditary osteodystrophy

Answer 267

clinical features of AHO chvosteks sign, offer trousseaus then offer to do ecg in examination

Question 268

clinical features of allbright's hereditary osteodystrophy?

Answer 268

- short stature and limbs - obesity - round flat face - short 4th/5th metacarpals +/- metatarsals - brachydactyly - archibald sign: absence of 4/5th knuckles on fist making - Potter's thumb (short thumb) - eye problems - low IQ - basal ganglia calcifications **pseudohypoPTH**

Question 269

what is pseudohypoparathyroidism?

Answer 269

kidney/bone unresponsive to PTH thus low ca, high phosphate, high PTH

Question 270

what is pseudopseudohypoPTH?

Answer 270

phenotypically abnormal but bicohemically normal - so wont really get in PACES - paternal allele heterozygous mutation

Question 271

diffferent types of pseudohypoPTH?

Answer 271

type 1a: Albright's hereditary osteodystrophy: round face, short stature, short 4/5th metacarpal, obesity, subcut calcification, dvt delay (maternal allele heterozygous mutation) type 1b: phenotype normal, biochem abnormal (epigenetic defect) type 1c: same as 1a but diff mutation (GNAS mutations) type 2: phenotype normal, biochem abnormal (mutation uncertain)

Question 272

low K and high BP: main differentials?

Answer 272

1) High aldosterone, low renin: Conn's syndrome (Hyperaldosteronism) 2) Aldo high, renin high: Renal artery stenosis, phaeochromocytoma, Renin producing tumour 3) Aldosterone and renin low: Cushings, Liquorice excess, Liddle's, Congenital Adrenal Hyperplasia

Question 273

young woman with headache, should ask...?

Answer 273

LMP to exclude pregnancy - should think about pre-eclampsia

Question 274

young HTN + low K -> what to examine for?

Answer 274

- auscultate for renal bruit: renal artery stenosis - abdominal exam: ballot for enlarged kidneys - proximal myopathy (cushing's)

Question 275

treatment for albright's hereditary osteodystrophy?

Answer 275

elemental calcium, low phosphate diet, activated vitamin D (calcitriol)

Question 276

do you need to give a patient with central cause of adrenocortical insufficiency fludrocortisone?

Answer 276

no, only need to give in primary adrenal insufficiency in central cause, the renin-aldosterone system is still working fine, so just need to replace hydrocortisone

Question 277

common causes of young DM due to diseases of exocrine pancreas (may cause steatorrhoea)?

Answer 277

chronic pancreatitis trauma/ pancreatectomy malignancy cystic fibrosis haemochromatosis

Question 278

endocrinopathies causing DM?

Answer 278

acromegaly cushing's phaeochromocytoma hyperthyroidism glucagonoma

Question 279

drugs causing DM/ hyperglycaemia?

Answer 279

steroids anti-psychotics thiazides beta agonists

Question 280

examination of patient with hereditary haemochromatosis?

Answer 280

- examine skin for bronzed/tanned skin - hand joints examination - abdominal exam: stigmata of chronic liver disease, hepatomegaly - cardiovascular exam: signs of heart failure

Question 281

diagnostic ix of hereditary haemochromatosis?

Answer 281

raised ferritin (> 150 in females, > 200 in males) and transferrin saturation (TSAT <45%) HFE gene mutation

Question 282

causes of thunderclap headaches

Answer 282

subarachnoid haemorrhage venous sinus thrombosis pituitary apoplexy hypertensive crisis vascular dissection (vasculitis)

Question 283

secondary hypertension causes (groups)?

Answer 283

renal endocrine neurological arteritis/ autoimmune

Question 284

associations of APKD?

Answer 284

30% liver cysts 20% mitral and aortic valve regurgitation 10% berry aneurysm colonic diverticulosis abdominal wall hernias

Question 285

treatment of subarachnoid haemorrhage?

Answer 285

BP control prevention of vasospasm- nimodipine refer NES for aneurysmal treatment if found: surgical clipping vs endovascular coiling

Question 286

targeted physical examination for a patient with hereditary haemorrhagic telangiectasia?

Answer 286

- clinical signs of HHT: telangiectasia on tongue, conjunctival pallor - postural BP - offer DRE

Question 287

ix for a patient with hereditary haemorrhagic telangiectasia?

Answer 287

diagnose HHT based on clinical signs/ presentation ix: FBC, iron panel can offer GE evaluation for iron deficiency anaemia (scopes) screening of other systemic AVMs e.g. cranial CT/ MR angio, bubble echo, US hepatic doppler

Question 288

inx of giant cell arteritis?

Answer 288

ESR temporal artery biopsy MRI/Angiography US temporal arteries

Question 289

symptoms of digoxin toxicity?

Answer 289

GI: anorexia, N/V, abdo pain CVS: bradycardia Neuro: color vision, confusion, weakness, lethargy, fatigue

Question 290

causes of digoxin toxicity?

Answer 290

think of precipitating factors: GE, AKI (dehydration), drugs! drugs: clartihromycin (clarithromycin inhibits tubular secretion of digoxin), verapamil, amiodarone, quinine, cyclosporin, itra/ketoconazole, diltiazem

Question 291

ix of digoxin toxicity?

Answer 291

ECG: T wave changes, short QT, sloped ST with ST depression, increased u wave digoxin level K Renal panel exclude other differentials

Question 292

management of digoxin toxicity?

Answer 292

admit ABC management telemetry monitoring management of arrhythmias as per ACLS Digibind (digoxin antibody) atropine for bradycardia IV fluids

Question 293

causes of hypertension in neurofibromatosis?

Answer 293

essential hypertension phaeochromocytoma renal artery stenosis (uni/bilat) coarctation of aorta drugs?

Question 294

physical examination of suspected lens dislocation in marfans patient?

Answer 294

lens/ iris tremor with eye movement: iridodonesis/ phacodonesis lens subluxation (inferior border of lens seen) check pupils reactivity (fixed mid-dilated: acute closure glaucoma) ask for formal slit lamp examination by opthalmologist check visual fields (loss of peripheral vision - retinal detachment) fundoscopy:

Question 295

management of lens dislocation in marfans syndrome

Answer 295

referral to ophthalmologist refraction by optometrist to optimize spectacle correction for astigmatism if unable to achieve good vision with spectacle, may require cataract/lens fixation surgery need to rule out other associated ocular conditions (keratoconus, glaucoma, retinal detachment)

Question 296

physical examination of anterior uveitis?

Answer 296

circumciliary injection miotic, poorly reactive pupil posterior synechiae (irregular pupil) hypopyon fibrin

Question 297

management of anterior uveitis?

Answer 297

immediate referral to ophthalmologist rule out other causes of uveitis e.g. infection: FBC CRP ESR topical steroids topical mydriatics (atropine) to prevent posterior synechiae aim to prevent sight threatening complications such as cataracts, posterior synechiae, glaucoma, macula oedema

Question 298

why use hydrocortisone over prednisolone/ dexamethasone in adrenocortical insufficiency?

Answer 298

relative potency of hydrocort to prednisolone to dexamethasone 40:10:1 hydrocortisone is more physiological and and has short half life 8-12h - when followed up outpatient, can omit 4pm dose and do SST next morning before resuming their 8am dose (if taking pred, have to ask them to stop for one week before doing SST. pt may collapse if develops septic shock) dexa has to be stopped 6 weeks before SST

Question 299

which area of adrenal secretes aldosterone?

Answer 299

zona glomerulosa

Question 300

red flag advice for adrenal insufficiency?

Answer 300

sick day advice: need to double the dose if vomiting, NBM, seek medical attention stat, may require IV hydrocortisone

Question 301

management of prolactinoma?

Answer 301

first line: medical management! dopamine agonists: bromocriptine, cabergoline

Question 302

Fever in the setting of graves disease?

Answer 302

think of thyroid storm think of agranulocytosis as a complication of treatment with carbimazole

Question 303

Thyrotoxic patients and pregnancy?

Answer 303

must ask about pregnancy plans advise to delay while actively thyrotoxic can change medications to PTU if planning for pregnancy

Question 304

Physical examination for patient with galactorrhoea?

Answer 304

- Offer examination of breast, to examine for breast lumps, axillary and cervical LN - Visual field examination - Goitre (hypothyroidism)

Question 305

important complications with hyperprolactinaemia?

Answer 305

- Osteoporosis - Hypogonadism symptoms - Infertility - Visual field defects if pituitary lesion, and apoplexy

Question 306

common risk factors for secondary osteoporosis?

Answer 306

- Steroid use - Endocrine cause: hyperthyroid/ hyperparathyroid/ hypogonadism

Question 307

drugs that cause raised prolactin?

Answer 307

antipsychotics (dopamine antagonists) antiemetics - so ask if any anti-nausea meds, any drugs for mood/ seizures?

Question 309

Pituitary lesion: what red flag advice to give patient?

Answer 309

advise re: apoplexy: worst headache of life, blurring of vision -> may have bleeding into tumour, need to come to hospital immediately stop driving due to visual impairment

Question 310

endocrine causes of hypoglycaemia?

Answer 310

addison's disease thyrotoxicosis insulinoma

Question 311

mx of reactive arthritis?

Answer 311

regular NSAIDs intraarticular steroid injections can consider systemic glucocorticosteroids if patient does not respond to initial therapies may required consideration of DMARDs

Question 312

how does metoclopramide affect phaeochromocytoma?

Answer 312

may make it worse - precipitates phaeochromocytoma crisis - catecholamine-releasing effect

Question 313

triad of paroxysmal nocturnal haemoglobinuria

Answer 313

Coombs negative hemolytic anemia, pancytopenia, and thrombosis

Question 314

management of paroxysmal nocturnal haemoglobinuria?

Answer 314

refer to haematologist manage thrombosis with blood thinners supportive with blood transfusions eculizumab

Question 315

ix in paroxysmal nocturnal haemoglobinuria?

Answer 315

- intravascular haemolytic anaemia: low Hb, raised LDH, raised Bil, low haptoglobin - Coombs negative - Diagnosis via flow cytometry for CD55 and CD59 on white and red blood cells