Endocrinology Flashcards

1
Q

What is MODY?

A

Development of T2DM in <25 year olds

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2
Q

How is MODY inheirited?

A

Autosomal dominant

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3
Q

Causes majority of MODY

A

MODY 3

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4
Q

MODY 3 defect

A

HNF-1 alpha gene

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5
Q

MODY 3 risk

A

HCC

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6
Q

MODY 2 defect

A

Glucokinase gene

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7
Q

MODY 5 defect and associations

A

HNF-1 beta gene

Liver and renal cysts

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8
Q

MODY Rx

A

Sulfonylureas

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9
Q

SIADH causes (malignancy)

A

Small cell lung Ca

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10
Q

SIADH causes (neurological)

A

Stroke, SAH, SDH, infection

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11
Q

SIADH causes (infection)

A

TB

Pneumonia

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12
Q

SIADH causes (drugs)

A
sulfonylureas
SSRIs, TCAs
Carbamazepine
Vincristine
Cyclophosphamide
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13
Q

Primary hyperaldosteronism: causes

A

Bilateral adrenal hyperplasia (common)

Adrenal adenoma

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14
Q

Primary hyperaldosteronism: features

A

Hypertension, hypokalaemia, alkalosis

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15
Q

Primary hyperaldosteronism: Investigations

A

Aldosterone/renin ration (high aldosterone with low renin)

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16
Q

Urinary sodium >20

A

Hypovolaemia - diuretics, Addison’s

Euvolaemic - SIADH, hypothyroid

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17
Q

Urinary sodium <20

A

Losses
Hypovolaemia - d&v, sweating, burns, rectal adenoma
Hypervolaemic - HF, nephrotic syndrome, IV dextrose, psychogenic polydipsia

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18
Q

Gastroparesis: features

A

Erratic BMs, bloating and vomiting

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19
Q

Gastroparesis: Mx

A

metoclopramide, domperidone, erythromycin

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20
Q

Pendred’s syndrome

A

AR

Bilateral sensorineural deafness with hypothyroidism and goitre

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21
Q

MEN 1

A

Parathyroid, pituitary, pancreas

MEN1 gene

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22
Q

MEN 2a

A

Medullary thyroid, parathyroid, phaeochromocytoma

RET

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23
Q

MEN 2b

A

Medullary thyroid, phaeochromocytoma
Marfanoid, neuromas
RET

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24
Q

Urinary incontinence: urge Mx

A
  • bladder retraining
  • antimuscarinics
  • mirabegron
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25
Q

Urinary incontinence: stress Mx

A
  • pelvic floor training
  • surgery
  • duloxetine
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26
Q

Insulin stress test: use

A

Hypopituitarism

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27
Q

Papillary thyroid cancer

A

Most common
Young females
Good prognosis

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28
Q

Medullary thyroid cancer

A

Secrete calcitonin

Part of MEN-2

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29
Q

Anaplastic thyroid cancer

A

Non response to treatment

Pressure symptoms

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30
Q

Lymphoma thyroid cancer

A

Hashimoto’s

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31
Q

Impaired fasting glucose: definition

A

Fasting glucose greater than 6.1 but than 7.0

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32
Q

Impaired glucose tolerance: definition

A

Fasting plasma glucose less than 7.0 and OGTT greater than 7.8 but less than 11.1

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33
Q

T2DM: Diagnostic criteria

A

Symptomatic and

  • fasting glucose >7.0
  • Random glucose >11.1
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34
Q

Serum osmolality: low Na and low osmolality

A

True hyponatraemia

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35
Q

Serum osmolality: low Na and normal osmolality

A

Pseudohyponatraemia

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36
Q

Serum osmolality: low Na and high osmolality

A

Hyperosmolar hyperglycaemic state

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37
Q

Low urine osmolality

A

Kidney cause

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38
Q

High urine osmolality

A

Other cause

39
Q

Drugs causing gynaecomastia (8)

A

Spironolactone, cimetidine, digoxin, cannabis, finasteride, GnRH agonists (-relin), oestrogrens, steroids

40
Q

Metabolic Syndrome: criteria (5)

A
Central obesity
Elevated triglycerides
Reduced HDL
HTN
Impaired glucose tolerance
41
Q

Fibrates: MoA

A

Activate PPAR alpha receptors in increase LDL activity

42
Q

Bartter’s syndrome; features

A
Polyuria, polydipsia
Hypokalaemia
Normotensive
Weakness
Similar to taking excessive furosemide
43
Q

Gietelman’s syndrome

A

Defect in thiazide sensitive NA CL transporter

Normotension, hypokalaemia, hypocalcuria, hypomagnesaemia, metabolic acidosis

44
Q

Corticosteroids; mineralocorticoid to glucocorticoid

A

Fludrocortisone
Hydrocortisone
Prednisolone
Dexamethasone

45
Q

Addison’s: biochemistry

A

Hyponatraemia

Hyperkalaemia

46
Q

Biguanides: MoA

A

Increase insulin sensitivity
Increase glucose uptake
Decrease glycogenolysis

47
Q

Thiazolidinesdiones: MoA

A

Increase insulin sensitivity

48
Q

Thiazolidinesdiones: cells

A

PPAR-Y

49
Q

Thiazolidinesdiones: SE

A

Anaemia, CHF, #, odema

50
Q

Thiazolidinesdiones: e.g.

A

-azones

51
Q

Sulfonylureas: MoA

A

Stimulates B cell insulin release

Inhibits K+ transfer

52
Q

Sulfonylureas: SE

A

Hypoglycaemia

Weight gain

53
Q

Sulfonylureas: e.g.

A

glicazide

54
Q

GLP-1 analogues: MoA

A

Increase glucose release

55
Q

GLP-1 analogues: SE

A

Headaches, muscle weakness

56
Q

GLP-1 analogues: e.g.

A

-tides

57
Q

DDP-1 anatognists: MoA

A

Inhibit GLP-1

58
Q

a-glucosidase inhibitor: MoA

A

decrease absorption of glucose

59
Q

a-glucosidase inhibitor: SE

A

flatulence, cramps, diarrhoea

60
Q

SGLT-2 inhibitors: MoA

A

Inhibit SGLT-2 in kidneys

Increase glucose excretion

61
Q

SGLT-2 inhibitors: SE

A

Polyuria, weight loss, UTIs

62
Q

SGLT-2 inhibitors: e.g.

A

-fliozin

63
Q

Menstruation: days

A

1-4

64
Q

Menstruation: follicular / proliferative

A

5 - 13

65
Q

Menstruation: ovulation

A

14

66
Q

Menstruation: luteal / secretory

A

15-28

67
Q

Ovulation is stimulated by..

A

LH surge

68
Q

Causes of raised PRL

A
Prolactinoma
Pregnancy
Oestrogens
Physiological
Acromegaly
PCOS
Hypothryoid
69
Q

Iatrogenic causes of PRL

A
Metoclopramide, domperidone
Phenothiazines
Haloperidol
SSRIs
Opioids
70
Q

PCOS: features

A
Subfertility, 
Menstrual disturbances
Obesity 
Hirsutism, acne
Acanthosis nigricans
71
Q

TSH receptor stimulating antibodies

A

Grave’s disease

72
Q

Anti-thyroid peroxidase antibodies

A

Grave’s disease

73
Q

TFTs: Thyrotoxicosis

A

TSH: low
T4: high

74
Q

TFTs: Primary hypothyroid

A

TSH: high
T4: low

75
Q

TFTs: Secondary hypothyroid

A

TSH: low
T4: low

76
Q

TFTs: Sick euthyroid

A

TSH: TSH
T4: low

77
Q

TFTs: Subclinical hypothyroid

A

TSH: high
T4: normal

78
Q

TFTs: Poor compliance thyroxine

A

TSH: T4
T4: normal

79
Q

TFTs: steroids

A

TSH; low

T4: normal

80
Q

Cushing’s: ABG

A

Hypokalaemia metabolic alkalosis

81
Q

Pseudohypoparathyroid: bloods

A

PTH: high
Calcium: low
PO4: high

82
Q

Pseudohypoparathyroid: features

A
Short fourth and fifth metacarpals
Shorts stature
Cognitive impairment
Obesity 
Round face
83
Q

Nuclear scintigraphy - patchy uptake

A

toxic multinodular goitre

84
Q

Klinefelter: Karotype

A

47, XXY

85
Q

Klinefelter: features

A
Tall
Lack of secondary sexual characteristics
Small, firm testis
Infertile
Gynaecomastia
Elevated gondatrophin
86
Q

Kallman’s features

A

delayed puberty
hypogondaism
anomisa
LH and FSH low

87
Q

HbA1C target in T1DM

A

48

88
Q

9am cortisol 100-500…

A

Inconclusive

Requires short synacthen test

89
Q

Water deprivation test: cranial cause

A

Urine osmolality
Post fluid deprivation - low
Post desmopressin - high

90
Q

Impaired fasting glucose is a problem with…

A

Hepatic insulin resistance

91
Q

Impaired glucose tolerance is a problem with…

A

Muscle insulin resistance

92
Q

Causes of hypercholesterolaemia

A

Nephrotic syndrome
Cholestasis
Hypothyroid

93
Q

Subclinical Hypothyroid: labs

A

Raised TSH

Normal T3/4

94
Q

Grave’s disease: features

A

Eye signs
Pretibial myxoedema
Thyroid acropachy