Endocrinology Flashcards

1
Q

Features of addison’s disease

A

Fatigue, weakness, weight loss, mucocutaneous hyperpigmentation, hypoglycaemia, hypovolaemia, low blood pressure, hyponatraemia and hyperkalaemia

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2
Q

Features of NF1

A

2 out of 7:
Six or more café-au-lait spots or hyperpigmented macules greater than 5 mm in diameter in prepubertal children and greater than 15 mm postpubertal

Axillary or inguinal freckles (>2 freckles)

Two or more typical neurofibromas or one plexiform neurofibroma

Optic nerve glioma

Two or more iris hamartomas (Lisch nodules), often identified only through slit-lamp examination by an ophthalmologist

Sphenoid dysplasia or typical long-bone abnormalities such as pseudarthrosis

First-degree relative (eg, mother, father, sister, brother) with NF1

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3
Q

Common tumours in NF2

A

Meningiomas, vestibular schwannoma’s (especially bilateral), posterior subcapsular lenticular opacities, neurofibromas

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4
Q

Which NF is associated with which MEN

A

NF-1 with MEN-2B

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5
Q

What is Sheehan’s syndrome?

A

Pituitary infarct. Happens in child birth due to large blood loss or extremely low BP during or after childbirth. Leads to decreased cortisol but normal aldosterone.

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6
Q

Order of hormone loss from pituitary due to mass effect

A

GH, LH, FSH, TSH, ACTH and finally prolactin

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7
Q

Main cause of t3 toxicosis (normal t4)

A

Autonomous nodule

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8
Q

Test for diabetes insipidus

A

Fluid supression test - urine will fail to concentrate if have DI

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9
Q

Causes of pseudo-hyponatraemia

A

Hyperglycaemia, hypertriglyceridaemia and and non-physiological osmolyte - correct these hyponatraemia resolves

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10
Q

Indicators of SIADH

A

Hyponatraemia
Urine osmol >100mOsm/kg
Urine Na >20mmol/L
Renal AQP2 excretion

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11
Q

Signs suggesting against SIADH

A

Hypotension and hypovolaemia
Non-osmotic AVP release
Oedema
Adrenal Failure

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12
Q

Management of hypokalaemia

A

Mild (3-3.4) Sando K 2 tablets TDS
Moderate (2.5-2.9) Sando K 2 tablets QDS
Severe (<2.5) or symptomatic - 40mmol KCL in litre normal saline (max 20mmol/hr). Check Mg and Phos

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13
Q

Barrter’s syndrome -what is it and what effect on serum electrolytes

A

TAL Na and Cl transport defect - leads to metabolic alkalosis, low K in blood, high Ca in urine

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14
Q

Gitelmans’ syndrome - what is it and what effect on serum electrolyte

A

Thiazide like effect in DCT NaCl transporter - Metabolic alakalosis and hypokalaemia with low Ca in urine

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15
Q

Effect of cushing’s syndrome on calcium and phosphate levels

A

Both drop, leading to a secondary hyperpararthyroidism

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16
Q

Effect of secondary hyperparathyroidism on bone

A

Increased osteoclast activity and osteoblast dysfunction, causing diffuse osteoporosis, bone pain and pathological fractures

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17
Q

Initial management of DKA

A

1L 0.9% NaCl over an hour, then fixed rate insulin (0.1units/kg/hr)

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18
Q

Other name for Somatomedin C

A

IGF-1

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19
Q

What do psammoma bodies on thyroid nodule FNA suggest?

A

Papillary thyroid cancer (have hypochromatic empty nuclei)

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20
Q

Which other hormone is raised by medullary thyroid cancer?

A

Calcitonin

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21
Q

Which cells are the origin of medullary thyroid cancer?

A

C-cells

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22
Q

Effect of Addisonal crisis on U&Es

A

Hyponatraemia and hyperkalaemia (+hypoglycaemia)

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23
Q

Deficiency of which 2 molecules can cause familial hypercholesterolaemia?

A

Apo B-100 deficiency or LDL receptor deficiency

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24
Q

What is pseudo-hypoparathryoroidism?

A

Low serum calcium and high phosphate causing PTH to rise

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25
Q

What is pseudopseudo-hypoparathyroidism?

A

Albright’s heriditary osteodystrophy. Normal lab tests

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26
Q

Effect of secondary adrenal insufficiency on cortisol and aldosterone

A

Cortisol reduced, aldosterone normal

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27
Q

What percentage of diabetes in the UK is type 1?

A

10%

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28
Q

Treatment of Graves during first trimester

A

Propylthiouracil. Avoid carbimazole as teratogenic in first trimester but use after this period

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29
Q

Effect of high dose Dex suppression on Cushing’s disease

A

Reduction in Cortisol

30
Q

HbA1c for pre diabetes

A

Between 42-47

31
Q

Effect of congenital adrenal hyperplasia on adrenal hormones

A

Decrease gluco and mineralocorticoids with increased sex steroids

32
Q

Effect of congenital adrenal hyperplasia on adrenal hormones

A

Decrease gluco and mineralocorticoids with increased sex steroids (causing penile enlargement in boys and ambiguous sex in girls)

33
Q

Consequences of thyrotoxic storm if left untreated

A

Acute congestive HF, shock and death

34
Q

Main cause of secondary hyperparathyroidism

A

Chronic renal failure

35
Q

Blood results in primary hyperparathyroidism

A

Raised Ca, Raised vit D, raised (or inappropriately normal) PTH and decreased phos

36
Q

Blood results in secondary hyperparathyroidism

A

Decreased or normal Ca, decreased Vit D, increased PTH and Inc or dec phos

37
Q

Blood results in tertiary hyperparathyroidism

A

High Ca, low vit D, very high PTH and increased phos

38
Q

What is De Quervain’s thyroiditis?

A

A subacute, granulomatous thyroiditis. Can cause hyperthyroidism initially progressing to hypothyroidism with destrcution of the thyroid gland. Can finally resolve or persist

39
Q

Effect of insulin on protein synthesis

A

Increases protein synthesis in the muscles

40
Q

Effect of primary hyperparathyroidism on acid-base balance

A

Mild hyperchloraemic metabolic acidosis

41
Q

What are Brown tumours?

A

Cystic lesions in the bone formed of osteoclasts occuring in primary hyperparathyroidism - can result in pathological fractures

42
Q

Clinical signs of primary hyperparathyroidism

A

Arcus senilis, reddened conjunctiva due to Ca2+ spilling out (usually lateral and medial effected rather than sup. and inf.). Often have erosion of the terminal phalynx on x-ray as well if long standing

43
Q

Dietary advice for those with primary hyper parathyroidism

A

Don’t avoid Ca containing foods as this can make it worse

44
Q

Which class of tumours are most strongly related with humoral hypercalcemia of malignancy?

A

Squamous cell carcinomas (multiple organs of origin)

45
Q

What is the mechanism of humoral hypercalcaemia of malignancy?

A

Release of PTHrP by tumour cells - acts like PTH in the tissues.

46
Q

Effect of myeloma on Ca2+ and phos levels

A

Both can be raised - phosphate raised due to effect of all the Ig secreted by plasma cells on the kidney

47
Q

Specific treatment of hypercalcaemia in myeloma

A

Steroids - high doses

48
Q

ECG sign of hypocalcaemia

A

Prolonged QTc interval

49
Q

Most common cause of hypoparathyroidism

A

Post-surgical (

50
Q

Mechanism of Albright’s hereditary osteodystrophy

A

Tissue resistance to PTH (+/- other hormone resistances). Also known as pseudohypoparathyroidism

51
Q

Which electrolyte must be corrected in order to correct calcium

A

Magnesium - hypocalcaemia can’t be corrected if hypomagnesaemia

52
Q

Difference between osteoporosis and osteomalacia

A

Osteoporosis is normal bone but less of it whereas osteomalacia is decreased concentration of mineral in bone

53
Q

Difference between pseudohypoparathyroidism and pseudopseudohypoparathyroidism

A

Both caused by GNAS genes and have same phenotypic appearance but normal lab tests (inc PTH and Ca)

54
Q

Cause of tertiary hyperparathyroidism

A

Uncorrected secondary hyperparathyroidism - high Ca. Usually raised phos and low vit D as main cause is Vit D deficiency.

55
Q

Second line medication in type 2 diabetes for patients with high BMI

A

DPP-4 inhibitors

56
Q

When does subacute lymphocytic thyroiditis usually occur?

A

After pregancy - also known as postpartum thyroiditis. Can present with thyrotoxicosis progressing to hypothyroid

57
Q

Fasting glucose cut off for diagnosis of T2DM

A

7mmol/L

58
Q

2 hour glucose level after 75g glucose cut off for T2DM

A

11.1mmol/L (also applies for a random sample in patient with classical symptoms of diabetes)

59
Q

HbA1c cut off for T2DM diagnosis

A

48 or more

60
Q

Management of hyponatraemia in SIADH

A

Fluid restricition - 800ml in 24 hours

Avoid giving fluids as makes worse - all of Na excreted but some of the water retained

61
Q

Target increase in serum Na in profound hyponatraemia

A

5-8mmol/L per day

62
Q

Inheritance pattern of MEN1

A

Autosomal dominant

63
Q

Anaplastic thyroid cancer histological appearance

A

Large pleomorphic giant cells

64
Q

What type of receptor and pathway does GH act on?

A

Tyrosine kinase receptor on JAK/STAT pathway

65
Q

What is reifenstein syndrome?

A

Male. Partial androgen insensitivity. Present with enlarged breasts and erectile dysfunction

66
Q

Treatment for MODY

A

Glucokinase - none
HNF-1a and 4a - low dose sulphonureas
HNF-1b - insulin

67
Q

Clinical features of MODY

A

Residual insulin secretion 3 years after diagnosis of type 1 diabetes
Young age of onset
Lack of metabolic syndrome in those with presumed type 2 DM

68
Q

2 main classes of MODY

A

Glucokinase and transcription factor

69
Q

Which MODY is associated with renal cysts/failure?

A

HNF-1b

70
Q

Classic triad of Graves disease

A

Pretibial myxoedema
Thyroid opthalmology
Thyroid acropatchy