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PACES 2024 > Station 2/5: Endocrine/ Others > Flashcards

Station 2/5: Endocrine/ Others Flashcards

1
Q

what is acromegaly?

A

excess GH activity as a result of a functional pituitary macroadenoma

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2
Q

what are the indicators of activity in acromegaly?

A
  • increased sweatiness
  • increased headache
  • worsening visual field defect
  • increased size of goitre/ size of hands/ shoe size
  • skin tags, acanthosis nigricans
  • HTN
  • glycosuria
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3
Q

what are angioid streaks?

A

degeneration and fibrosis of Bruch’s membrane

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4
Q

what are some causes of macroglossia?

A

acromegaly
hypothyroidism
amyloidosis
downs syndrome
haematological malignancy

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5
Q

complications of Acromegaly

A

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

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6
Q

What are conditions with excess growth hormone besides acromegaly?

A

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)

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7
Q

Features of MEN1?

A

PPP

Pituitary tumour
Pancreatic tumour
Parathyroid adenoma or hyperplasia

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8
Q

Features of MEN IIa?

A

MPP

Medullary thyroid cancer
Phaeochromocytoma
Parathyroid hyperplasia

Autosomal dominant
RET oncogene mutation

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9
Q

features of MEN IIb?

A

MMM+P

Medullary thyroid cancer
Phaeochromocytoma
Mucosal neuromas
Marfanoid features

Auto dom

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10
Q

History for acromegaly - what specific features to ask

A
  • 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

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11
Q

examination for acromegaly?

A

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

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12
Q

examination for acromegaly: how to complete your examination?

A
  • 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
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13
Q

characteristic features of acromegaly?

A

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

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14
Q

diagnosis of acromegaly?

A
  • 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
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15
Q

Ix of Acromegaly?

A

**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

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16
Q

imaging in acromegaly?

A

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)

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17
Q

Dynamic pituitary function testing in acromegaly

A

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
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18
Q

how may prolactin levels be affected in acromegaly?

A

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

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19
Q

Management in Acromegaly?

A

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

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20
Q

surgical options for acromegaly pituitary lesion?

A

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

or open surgery (transcranial scar across top of forehead)

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21
Q

how does octreotide work in acromegaly?

A

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

monthly sc injections

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22
Q

follow up in acromegaly?

A

will need lifelong follow up

even after resection, there is risk of recurrence

may monitor with IGF1/ imaging

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23
Q

what are the causes of Cushing’s syndrome?

A

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

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24
Q

Causes of ectopic ACTH production?

A

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

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25
Q

Causes of ACTH independent Cushing’s syndrome

A

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
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26
Q

what is pseudo Cushing’s syndrome?

A

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

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27
Q

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

A

insulin stress test may be used to differentiate

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28
Q

Screening test for Cushing’s syndrome?

A
  • overnight dexamethasone suppression test:
    serve 1mg between 11pm and midnight, measure 8am cortisol next morning (>2mcg/dl)

or
- 24h urinary cortisol

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29
Q

ix of cushing’s syndrome?

A
  • 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

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30
Q

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

A

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

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31
Q

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

A

causes:
obesity
ETOH abuse
anxiety
depression
pregnancy
PCOS

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32
Q

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

cause?

A

Pituitary adenoma
(Cushing’s disease)

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33
Q

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

causes?

A

Ectopic ACTH secretion
or
Cortisol-secreting adrenal tumour

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34
Q

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

A

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

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35
Q

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

A

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

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36
Q

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

A

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

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37
Q

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

A

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

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38
Q

high cortisol

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

A

pseudo cushings

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39
Q

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

A

Adrenal cause

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40
Q

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

A

pituitary cause of cushings

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41
Q

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

A

ectopic ACTH production

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42
Q
A
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43
Q

Management of Cushing’s syndrome?

A

treat primary cause

ie. exogenous steroids-> withdrawal if possible

endogenous cause -> surgery/ medical therapy

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44
Q

management of cushing’s syndrome from exogenous steroids?

A

withdrawal of steroids if possible

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

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45
Q

management of cushing’s disease?

A

surgery:
- transpehnoidal hypophysectomy
- transfrontal hypophysectomy
- pituitary irradiation

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46
Q

management of ectopic ACTH production

A

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)

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47
Q

management of ACTH independent adrenal adenoma/ carinoma or hyperplasia?

A

adrenal adenoma/ carcinoma - unilateral adrenalectomy

adrenal hyperplasia- bilateral adrenalectomy

medical therapy if surgery not possible e.g metastatic adrenal carcinoma. can use ketoconazole, metyrapone

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48
Q

what is Nelson’s syndrome?

A
  • 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
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49
Q

what are purple striae?

A

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

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50
Q

signs suggesting ectopic ACTH secretion?

A

absence of cushingoid habitus
prominent oedema and hypertension
marked muscle weakness

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51
Q

cushings syndrome: features suggesting adrenal carcinoma?

A

virilisation in the female, gynaecomastia in male
palpable abdominal mass

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52
Q

significance of hyperpigmentation in a cushingoid patient

A

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

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53
Q

examination of patient with Cushing’s syndrome

A

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)

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54
Q

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

A

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

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55
Q

complications of cushings syndrome

A

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

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56
Q

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

A

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

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57
Q

features of Klinefelter’s syndrome

A
  • 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

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58
Q

examination of patient with suspected Klinefelter’s syndrome?

A

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

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59
Q

Klinefelters syndrome: what to offer to complete examination

A

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

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60
Q

causes of secondary hypogonadism?

A

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

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61
Q

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

A

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

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62
Q

History taking in Marfan’s Syndrome

A
  • 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
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63
Q

Examination of Marfan’s syndrome

A
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64
Q

Skeletal features of Marfan’s syndrome

A
  • 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

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65
Q

Ocular features of Marfan’s syndrome

A
  • 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
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66
Q

Cardiorespiratory features of Marfan’s

A
  • aortic root dilatation (commonest CVS abnormality), aortic regurg, MVP, aortic aneurysm/ dissection
  • signs of cardiac failure: raised JVP, lung crepitations, pedal edema
  • spontaneous PTx
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67
Q

Diagnosis of Marfan’s based on what criteria?

A

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

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68
Q

diagnostic criteria for marfans syndrome in greater detail?

A

FBN1 - fibrillin gene mutation

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69
Q

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

A
  • 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
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70
Q

management of Marfan’s syndrome?

A

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

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71
Q

DDx of Marfans syndrome?

A

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

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72
Q

common cause of mortality in marfan’s syndrome?

A

cardiovascular complications cause 95% of deaths

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73
Q

complications of pregnancy in women with Marfan’s syndrome?

A
  • early premature abortion
  • risk of maternal death from aortic dissection
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74
Q

how to score joint hyperlaxity?

A

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)
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75
Q

History in Phaeochromocytoma?

A

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

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76
Q

examination of phaeochromocytoma?

A
  • cardio/ resp: Heart failure, displaced apex beat
  • thyroid exam
  • abdo: renal bruit
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77
Q

complications of phaeochromocytoma?

A

catecholamine induced cardiomyopathy

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78
Q

associations of phaeochromocytoma?

A

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

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79
Q

phaeochromocytoma: rule of 10s

A

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)

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80
Q

Features of MEN1?

A

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

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81
Q

features of MEN2a?

A

chromosome 10, ret proto-oncogene

parathyroid
phaeochromocytoma
Medullary Thyroid cancer

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82
Q

features of MEN 2B?

A

chromosome 10, ret proto-oncogene, tends to occur as sporadic mutations

parathyroid
phaeochromocytoma
medullary thyroid cancer
marfanoid habitus
mucosal neuromas/ ganglioneuromatosis (pathognomonic)

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83
Q

ix of phaeochromocytoma?

A
  • 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
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84
Q

management of phaeochromocytoma?

A

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

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85
Q

purpose of alpha blockade and beta blockade in phaeochromocytoma?

A

alpha blockade reverses the peripheral vasoconstriction whereas beta blockade prevents tachycardia

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86
Q

risk of hypertensive crisis in phaechromocytoma?

A

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

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87
Q

DDx of phaeochromocytoma?

A

insulinoma
hyperthyroidism
carcinoid syndrome
renovascular hypertension
paroxysmal SVT
anxiety disorder

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88
Q

what is carcinoid tumour?

A

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

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89
Q

most common site for carcinoid tumour?

A

appendix (25%)
followed by rectum, terminal ileum

less commonly: bronchus, ovary, testis

80% tumours greater than 2cm in diameter will metastasize

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90
Q

cardiac lesions in carcinoid tumours?

A

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

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91
Q

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

A

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

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92
Q

what is Carcinoid syndrome?

A

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

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93
Q

ix carcinoid syndrome?

A

elevated 24h urinary excretion of 5-hydroxyindoleactic acid (5-HIAA)

raised plasma chromogranin A

US abdomen to visualize the liver mets

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94
Q

mx of carcinoid syndrome?

A

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

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95
Q

complication of carcinoid syndrome?

A

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

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96
Q

history taking for carcinoid syndrome?

A

episodic flushing a/w wheeze, lacrimation, periorbital oedema - ppt by eating, exertion, excitement, alcohol

chronic intermittent diarrhoea, abdo pain

hypotension, dizziness

heart failure symptoms

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97
Q

examination of carcinoid tumour?

A

flushed face

telangiectasia

cardio -murmurs, heart failure

resp- bronchial carcinoid, bronchoconstriction during flushing attacks

abdo- hepatomegaly

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98
Q

what is Paget’s disease?

A

a chronic progressive disease of increased osteoblastic and osteoclastic activity, resulting in increased bone turnover and abnormal remodeling

(rare under 50 yo)

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99
Q

clinical features of paget’s disease?

A

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
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100
Q

ix of paget’s disease?

A

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

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101
Q

Management of Paget’s disease?

A

bisphosphonates (e.g. alendronate, IV pamidronate)
calcitonin

aim for normalized bone turnover, as indicated by normal ALP levels
- f/u 6 monthly ALP levels

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102
Q

complications of paget’s disease?

A

osteogenic sarcoma - rare complication, usually humerus, or femur

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103
Q

how does PTH work?

A

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

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104
Q

history in Paget’s disease

A
  • 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
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105
Q

examination in paget’s disease

A

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)

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106
Q

features of primary hyperparathyroidism?

A

‘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
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107
Q

examination in primary hyperparathyroidism

A

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

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108
Q

primary hyperparathyroidism associations?

A

MEN 1, II
HTN

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109
Q

ix for primary hyperparathyroidism

A

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

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110
Q

causes of hyperparathyroidism

A

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

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111
Q

management of Primary hyperparathyroidism?

A

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

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112
Q

indications for partial or total parathyroidectomy?

A
  • markedly elevated corrected Calcium > 3mmol/L
  • impaired renal function
  • renal stones
  • nephrocalcinosis
  • elevated urinary calcium
  • reduced BMD
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113
Q

primary hyperPTH: Calcium/PO4?

A

Ca high, PO4 low
PTH high
ALP N or high

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114
Q

Secondary hyperPTH: Calcium/PO4?

A

Calcium low
PO4 High
PTH high
ALP normal or high

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115
Q

Tertiary hyperPTH: Calcium/PO4?

A

Calcium High
PO4 low
PTH high
ALP normal or high

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116
Q

Clinical features of panhypopituitarism?

A
  • 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
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117
Q

History taking for panhypopituitarism

A

Males: reduced frequency of shaving, impotence, gynaecomastia
Female: hx post partum haemorrhage (Sheehan’s), amenorrhoea

  • Galactorrhoea
  • Phx of radiation (eg for NPC) or surgery
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118
Q

Examination for panhypopituitarism

A

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

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119
Q

Causes of panhypopituitarism

A

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

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120
Q

Ix of panhypopituitarism?

A

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

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121
Q

Management of panhypopituitarism

A

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
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122
Q

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

A

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

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123
Q

History taking in addisons disease

A
  • 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

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124
Q

Examination for addisons disease

A
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125
Q

Ix for addisons disease

A
  • 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

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126
Q

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

A

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.

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127
Q

Management of Addisons disease

A
  • Replace steroids: Fludrocortisone, Hydrocortisone

• Steroid card
• PT education: treatment compliance and stress dose steroids during illnesses

128
Q

Causes of Addisons disease

A
  • autoimmune: 21 hydroxylase antibodies
  • ТВ
  • Mets
  • HIV
129
Q

Causes of hyperpigmentation

A
  • Addison’s, Nelson’s, ectopic ACTH
  • Liver: PBC, hemochromatosis
  • uraemia
  • Race, suntan
  • Porphyria cutanea tarda
130
Q

Addison’s disease associated conditions?

A
  • 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)

131
Q

Types of neurofibromatosis?

A

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

132
Q

Causes of Hypothyroidism?

A
  • 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
133
Q

History taking in hypothyroidism

A

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

134
Q

Examination for hypothyroidism?

A

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

135
Q

Features of hashimoto’s thyroiditis

A
  • 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
136
Q

Features of primary atrophic hypothyroidism?

A

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

137
Q

Features of secondary hypothyroidism

A
  • pituitary failure
  • a/w Down’s & Turner’s syndromes, coeliac disease
138
Q

What is sick euthyroid

A

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

139
Q

What is Riedel’s thyroiditis?

A
  • 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.

140
Q

Features of myxoedema coma

A

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

141
Q

Treatment of myxoedema coma

A

Iv thyroxine
Slow re warming
Iv hydrocortisone for concurrent hypoadrenalism

Cautious IV hydration as patients are usually in fluid overload

142
Q

Significance of subclinical hypothyroidism

A

Risk of progression to overt hypothyroidism is 2-5% per year (higher in men)

Risk increased by presence of thyroid autoantibodies

143
Q

When to treat subclinical hypothyroidism

A

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

144
Q

Treatment in amiodarone induced hypothyroidism

A

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

145
Q

Mx of hypothyroidism

A
  • 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

146
Q

Side effects of thyroxine therapy

A

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

147
Q

Lab changes in hypothyroidism

A

Hypercholesterolaemia
Hypona
Anaemia
Elevated CK and LDH
Hyperprolactinaemia

148
Q

What is Graves’ disease

A

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)

149
Q

Ix of patients with Graves’ disease

A

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

150
Q

Ix of patient with multinodular goitre

A

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

151
Q

Mx of Graves’ disease

A

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

Radio-iodine

Thyroidectomy

152
Q

How long would you treat with medications in Graves’ disease

A

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

153
Q

Differences between different anti thyroid meds for Graves’ disease

A

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

154
Q

SEs of anti thyroid meds

A

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

155
Q

Contraindications for radio iodine

A

Pregnancy
Breast feeding
Children and adolescents

Need to avoid pregnancy 4 months after

156
Q

Efficacy of radio iodine

A

90% will become euthyroid within 2 months

157
Q

Side effects of radioiodine therapy

A
  • 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)
158
Q

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

A

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)

159
Q

Tx of radioiodine induced worsening thyrotoxicosis post treatment?

A

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

160
Q

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

A

Smokers, severe hyperthyroidism

161
Q

Indications for thyroidectomy in Graves’ disease

A

Cancer
Compression
Cosmesis

162
Q

Side effect/ risk of thyroidectomy

A

Recurrent laryngeal nerve injury
HypoPTH

163
Q

Mx of multinodular goitre

A

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

164
Q

Mx of toxic adenoma causing hyperthyroidism

A

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

165
Q

Mx of subacute thyroiditis causing hyperthyroidism?

A

Should not tx w thionamides

Tx w propranolol, aspirin, NSAIDs, glucocorticoids

166
Q

Tx of graves eye disease

A

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

167
Q

What are the clinical signs specific to Graves’ disease?

A

Graves ophthalmopathy
Pretibial myxoedema
Thyroid acropachy
Diffuse goitre
Lymphoid hyperplasia

168
Q

What is graves ophthalmopathy

A
  • 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

169
Q

Risks for more severe thyroid eye disease

A

Smokers, elderly males
Post radio iodine tx
Severe hyperthyroidism

170
Q

How to assess activity of the eye disease

A

Retrobulbar pain
Pain on eye movement
Eyelid erythema
Conjunctival injection
Chemosis
Swelling of the caruncle
Eyelid oedema

Proptosis
Reduced VA
eye movements affected

171
Q

What is pretibial myxoedema

A

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

172
Q

Signs of hyperthyroidism?

A

Resting tachycardia
Sweaty palms
Tremors
Hyperreflexia
Thyroid bruit

173
Q

What are the causes of hyperthyroidism

A

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

174
Q

Types of amiodarone induced thyrotoxicosis

A

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

175
Q

DDx of swellings in the neck midline

A

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

176
Q

DDx of lateral neck swellings

A

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

177
Q

How would you grade the goitre (thyroid)

A

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

178
Q

What is pembertons sign?

A

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

179
Q

How do you differentiate between thyroid acropachy and HPOA?

A

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

180
Q

What are the associated clinical conditions w Graves’ disease

A
  • DM
  • vitiligo
  • pernicious anaemia
  • Addisons disease
  • myasthenia Gravis
  • Alopecia areata
181
Q

What is T3 thyrotoxicosis

A

Hyperthyroid symptoms and signs
Normal fT4 but elevated T3

182
Q

What is sick euthyroid

A

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

183
Q

TSH receptor antibody assoc w?

A

Graves’ disease
- positive in >90%

184
Q

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

A

Graves, Hashimotos, silent thyroiditis, post partum thyroiditis

185
Q

Anti microsomal antibody assoc w?

A

Hashimotos thyroiditis
Post partum thyroiditis

186
Q

Thyroid stimulating Ig assoc w ?

A

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

187
Q

history taking in hyperthyroidism?

A
  • 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

188
Q

examination in hyperthyroidism?

A

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

189
Q

thyroid examination: how to complete your examination?

A

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

190
Q

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

A
  • 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)

191
Q

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

A

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

192
Q

risks to fetus in hyperthyroid mothers

A

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

193
Q

anti-thyroid drugs in lactating mothers?

A

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

194
Q

combination therapy of PTU and thyroxine in pregnancy?

A

contraindicated

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

195
Q

features of peutz jegher syndrome

A

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)

196
Q

what malignancy is peutz jegher syndrome assoc w?

A

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

malignancies

197
Q

examination findings in peutz jegher syndrome?

A

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

198
Q

examination in peutz jegher: how to complete your examination

A

PR exam for bleeding

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

199
Q

diagnostic criteria of NF1?

A

at least 2 out of 7 criteria:
- fibroma: >=2 Neurofibromas or >=1 plexiform neurofibroma
- iris hamartoma - >=2 Lisch nodules
- Bone lesions: e.g. sphenoid dysplasia (pulsating proptosis, kyphoscoliosis, tibial pseudoarthroses, thinning of cortex of long bones of body e.g. bowing of legs)
- Relative - 1 or more first degree relative
- Optic glioma
- Macules - >= 6 cafe au lait spots, each >15mm in greatest diameter (light brown pigmented macules)
- Axillary freckles

200
Q

diagnostic criteria for NF2

A

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

201
Q

lisch nodules?

A

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

202
Q

what are the possible causes of hypertension in NF?

A

renal artery stenosis
phaeochromocytoma
coarctation of the aorta

203
Q

what are the histology of the skin tumours in NF?

A

schwannomas
neurofibromas

204
Q

Diagnosis of NF?

A

diagnosis is clinical

205
Q

management of neurofibromatosis?

A

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

206
Q

associations and complications of nuerofibromatosis?

A

childhood leukaemia

CNS complications

sarcomatous changes

bony complications

lung cysts

hypertension: coarctation of aorta, renal artery stenosis, phaeochromocytoma (5%)

207
Q

bony complications assoc neurofibromatosis?

A

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

208
Q

CNS complications of Neurofibromatosis?

A

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

209
Q

What is tuberous sclerosis?

A

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%

210
Q

Features of tuberous sclerosis

A
  • 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
211
Q

Examination of tuberous sclerosis?

A

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.

212
Q

Mx of tuberous sclerosis

A
  • Education, Genetic Counselling
  • Rx seizures, survellience for CNS and intra-abdo tumours
213
Q

Features of Sturge Weber syndrome?

A

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

214
Q

Ix in sturge Weber?

A

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

215
Q

Management of Sturge Weber syndrome

A

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

216
Q

History taking in Neurofibromatosis

A
  • 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

217
Q

What are some neurocutaneous conditions?

A

Tuberous sclerosis
Neurofibromatosis
Sturge Weber syndrome
von hippel Lindau

218
Q

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

A

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

219
Q

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

A

Urine K/Cr > 1.5

220
Q

causes of hypoK?

A

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

221
Q

hypoK with renal losses + Acidosis

A

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

222
Q

HypoK with renal loss of K + Alkalosis?

A

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

223
Q

Approach to hyperlipidaemia?

A

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

224
Q

physical examination of hyperlipidaemia?

A

xanthomas
xanthelasma
corneal arcus
CABG scar

225
Q

treatment of hyperlipidaemia?

A

discuss with patient about genetic testing

lifestyle modifications

medications: statins, ezetimibe, PCSK9i e.g. evolucumab

226
Q

pituitary hormones produced from anterior pituitary?

A

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

227
Q

clinical features of hyperprolactinaemia?

A

galactorrhoea

gonadal dysfunction:
- a/oligomenorrhoea, infertility
- impotence, reduced libido

secondary osteoporosis

symptoms related to compression:
visual field defect
cranial nerve deficits
hypopituitarism

228
Q

what cranial nerves may be affected in pituitary gland enlargement

A
229
Q

what is hook effect in prolactinoma?

A

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

230
Q

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

A

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

231
Q

what is used to guide therapy for hyperthyroidism?

A

free T4
-aim levels of ~15

232
Q

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

A

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

233
Q

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

A

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

234
Q

what is hypokalaemic periodic paralysis

A

recurrent attacks of skeletal muscle weakness with associated hypokalemia

usually precipitated by high carb diet or strenuous exercise, or alcohol

235
Q

management of thyrotoxic periodic paralysis?

A

restoration of euthyroidism
avoid precipitating factors e.g. high carb load, heavy exercise, alcohol

In acute attacks:
K replacement
Propranolol

236
Q

why check for RAPD in thyroid eye disease?

A

compressive optic neuropathy

237
Q

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

A

pupils for RAPD
fundoscopy for disc swelling

238
Q

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

A

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

239
Q

what are some signs of mild thyroid eye disease?

A

only having eyelid signs, mild proptosis

240
Q

what are some signs of moderately severe thyroid eye disease?

A

mainly restrictive myopathy (diplopia)

241
Q

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

A
  • lid redness/ oedema
  • conjunctival redness/ chemosis
  • retrobulbar pain at rest
  • superior limbic keratoconjunctivitis
242
Q

Management of thyroid eye disease?

A

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

243
Q

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

A

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

244
Q

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

A
  • orbital wall decompression surgery
  • squint surgery for restrictive myopathy
  • lid surgery for lid retraction
245
Q

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

A

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

246
Q

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

A
  • examine neck (PTH)
  • examine visual fields (cranial DI)
  • focused examination of abdomen
  • offer postural BP
247
Q

causes of cranial Diabetes insipidus?

A

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

248
Q

common causes of nephrogenic DI?

A

lithium
hyperCa
HypoK

249
Q

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

A
  • identify leg length discrepancy
  • lower limb examination: Hip ROM, neurovascular status of the limb
  • no blue sclera/ other features of osteogenesis imperfecta
250
Q

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

A

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

251
Q

what is osteogenesis imperfecta?

A

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

252
Q

types of osteogenesis imperfecta?

A

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

253
Q

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

A
  • family history
  • progressive deforming?
  • cardiopulmonary function ok?
254
Q

physical examination to note in patient with suspected osteogenesis imperfecta?

A
  • 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
255
Q

definition of atypical femoral fracture?

A

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

256
Q

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

A
  • 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

257
Q

management of osteogenesis imperfecta?

A

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

258
Q

pharmacological therapy indicated for management of osteogenesis imperfecta?

A

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

259
Q

orthopaedic management of osteogenesis imperfecta?

A

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

260
Q

general management of osteogenesis imperfecta?

A

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

261
Q

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

A

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)

262
Q

can you stop denosumab abruptly?

A

no, bridge with bisphosphonate to reduce risk of rebound fractures

263
Q

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

A

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

264
Q

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

A

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

265
Q

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

A

mutation in LDLR, PCSK9 or APOB gene

266
Q

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

A

tendinous xanthomata

267
Q

physical examination in hypocalcaemia 2’ allbrights hereditary osteodystrophy

A

clinical features of AHO
chvosteks sign, offer trousseaus

then offer to do ecg in examination

268
Q

clinical features of allbright’s hereditary osteodystrophy?

A
  • 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

269
Q

what is pseudohypoparathyroidism?

A

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

270
Q

what is pseudopseudohypoPTH?

A

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

271
Q

diffferent types of pseudohypoPTH?

A

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)

272
Q

low K and high BP:
main differentials?

A

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

273
Q

young woman with headache, should ask…?

A

LMP to exclude pregnancy
- should think about pre-eclampsia

274
Q

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

A
  • auscultate for renal bruit: renal artery stenosis
  • abdominal exam: ballot for enlarged kidneys
  • proximal myopathy (cushing’s)
275
Q

treatment for albright’s hereditary osteodystrophy?

A

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

276
Q

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

A

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

277
Q

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

A

chronic pancreatitis
trauma/ pancreatectomy
malignancy
cystic fibrosis
haemochromatosis

278
Q

endocrinopathies causing DM?

A

acromegaly
cushing’s
phaeochromocytoma
hyperthyroidism
glucagonoma

279
Q

drugs causing DM/ hyperglycaemia?

A

steroids
anti-psychotics
thiazides
beta agonists

280
Q

examination of patient with hereditary haemochromatosis?

A
  • examine skin for bronzed/tanned skin
  • hand joints examination
  • abdominal exam: stigmata of chronic liver disease, hepatomegaly
  • cardiovascular exam: signs of heart failure
281
Q

diagnostic ix of hereditary haemochromatosis?

A

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

HFE gene mutation

282
Q

causes of thunderclap headaches

A

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

283
Q

secondary hypertension causes (groups)?

A

renal
endocrine
neurological
arteritis/ autoimmune

284
Q

associations of APKD?

A

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

285
Q

treatment of subarachnoid haemorrhage?

A

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

286
Q

targeted physical examination for a patient with hereditary haemorrhagic telangiectasia?

A
  • clinical signs of HHT: telangiectasia on tongue, conjunctival pallor
  • postural BP
  • offer DRE
287
Q

ix for a patient with hereditary haemorrhagic telangiectasia?

A

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

288
Q

inx of giant cell arteritis?

A

ESR
temporal artery biopsy
MRI/Angiography
US temporal arteries

289
Q

symptoms of digoxin toxicity?

A

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

290
Q

causes of digoxin toxicity?

A

think of precipitating factors: GE, AKI (dehydration), drugs!

drugs: clartihromycin (clarithromycin inhibits tubular secretion of digoxin), verapamil, amiodarone, quinine, cyclosporin, itra/ketoconazole, diltiazem

291
Q

ix of digoxin toxicity?

A

ECG: T wave changes, short QT, sloped ST with ST depression, increased u wave

digoxin level
K
Renal panel

exclude other differentials

292
Q

management of digoxin toxicity?

A

admit
ABC management
telemetry monitoring
management of arrhythmias as per ACLS

Digibind (digoxin antibody)
atropine for bradycardia
IV fluids

293
Q

causes of hypertension in neurofibromatosis?

A

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

294
Q

physical examination of suspected lens dislocation in marfans patient?

A

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:

295
Q

management of lens dislocation in marfans syndrome

A

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)

296
Q

physical examination of anterior uveitis?

A

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

297
Q

management of anterior uveitis?

A

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

298
Q

why use hydrocortisone over prednisolone/ dexamethasone in adrenocortical insufficiency?

A

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

299
Q

which area of adrenal secretes aldosterone?

A

zona glomerulosa

300
Q

red flag advice for adrenal insufficiency?

A

sick day advice: need to double the dose

if vomiting, NBM, seek medical attention stat, may require IV hydrocortisone

301
Q

management of prolactinoma?

A

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

302
Q

Fever in the setting of graves disease?

A

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

303
Q

Thyrotoxic patients and pregnancy?

A

must ask about pregnancy plans

advise to delay while actively thyrotoxic

can change medications to PTU if planning for pregnancy

304
Q

Physical examination for patient with galactorrhoea?

A
  • Offer examination of breast, to examine for breast lumps, axillary and cervical LN
  • Visual field examination
  • Goitre (hypothyroidism)
305
Q

important complications with hyperprolactinaemia?

A
  • Osteoporosis
  • Hypogonadism symptoms
  • Infertility
  • Visual field defects if pituitary lesion, and apoplexy
306
Q

common risk factors for secondary osteoporosis?

A
  • Steroid use
  • Endocrine cause: hyperthyroid/ hyperparathyroid/ hypogonadism
307
Q

drugs that cause raised prolactin?

A

antipsychotics (dopamine antagonists)
antiemetics

  • so ask if any anti-nausea meds, any drugs for mood/ seizures?
308
Q
A
309
Q

Pituitary lesion: what red flag advice to give patient?

A

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

310
Q

endocrine causes of hypoglycaemia?

A

addison’s disease
thyrotoxicosis
insulinoma

311
Q

mx of reactive arthritis?

A

regular NSAIDs
intraarticular steroid injections
can consider systemic glucocorticosteroids

if patient does not respond to initial therapies may required consideration of DMARDs

312
Q

how does metoclopramide affect phaeochromocytoma?

A

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

313
Q

triad of paroxysmal nocturnal haemoglobinuria

A

Coombs negative hemolytic anemia, pancytopenia, and thrombosis

314
Q

management of paroxysmal nocturnal haemoglobinuria?

A

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

315
Q

ix in paroxysmal nocturnal haemoglobinuria?

A
  • 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

PACES 2024 (14 decks)

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