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
Urinary incontinence: stress Mx
- pelvic floor training - surgery - duloxetine
26
Insulin stress test: use
Hypopituitarism
27
Papillary thyroid cancer
Most common Young females Good prognosis
28
Medullary thyroid cancer
Secrete calcitonin | Part of MEN-2
29
Anaplastic thyroid cancer
Non response to treatment | Pressure symptoms
30
Lymphoma thyroid cancer
Hashimoto's
31
Impaired fasting glucose: definition
Fasting glucose greater than 6.1 but than 7.0
32
Impaired glucose tolerance: definition
Fasting plasma glucose less than 7.0 and OGTT greater than 7.8 but less than 11.1
33
T2DM: Diagnostic criteria
Symptomatic and - fasting glucose >7.0 - Random glucose >11.1
34
Serum osmolality: low Na and low osmolality
True hyponatraemia
35
Serum osmolality: low Na and normal osmolality
Pseudohyponatraemia
36
Serum osmolality: low Na and high osmolality
Hyperosmolar hyperglycaemic state
37
Low urine osmolality
Kidney cause
38
High urine osmolality
Other cause
39
Drugs causing gynaecomastia (8)
Spironolactone, cimetidine, digoxin, cannabis, finasteride, GnRH agonists (-relin), oestrogrens, steroids
40
Metabolic Syndrome: criteria (5)
``` Central obesity Elevated triglycerides Reduced HDL HTN Impaired glucose tolerance ```
41
Fibrates: MoA
Activate PPAR alpha receptors in increase LDL activity
42
Bartter's syndrome; features
``` Polyuria, polydipsia Hypokalaemia Normotensive Weakness Similar to taking excessive furosemide ```
43
Gietelman's syndrome
Defect in thiazide sensitive NA CL transporter | Normotension, hypokalaemia, hypocalcuria, hypomagnesaemia, metabolic acidosis
44
Corticosteroids; mineralocorticoid to glucocorticoid
Fludrocortisone Hydrocortisone Prednisolone Dexamethasone
45
Addison's: biochemistry
Hyponatraemia | Hyperkalaemia
46
Biguanides: MoA
Increase insulin sensitivity Increase glucose uptake Decrease glycogenolysis
47
Thiazolidinesdiones: MoA
Increase insulin sensitivity
48
Thiazolidinesdiones: cells
PPAR-Y
49
Thiazolidinesdiones: SE
Anaemia, CHF, #, odema
50
Thiazolidinesdiones: e.g.
-azones
51
Sulfonylureas: MoA
Stimulates B cell insulin release | Inhibits K+ transfer
52
Sulfonylureas: SE
Hypoglycaemia | Weight gain
53
Sulfonylureas: e.g.
glicazide
54
GLP-1 analogues: MoA
Increase glucose release
55
GLP-1 analogues: SE
Headaches, muscle weakness
56
GLP-1 analogues: e.g.
-tides
57
DDP-1 anatognists: MoA
Inhibit GLP-1
58
a-glucosidase inhibitor: MoA
decrease absorption of glucose
59
a-glucosidase inhibitor: SE
flatulence, cramps, diarrhoea
60
SGLT-2 inhibitors: MoA
Inhibit SGLT-2 in kidneys | Increase glucose excretion
61
SGLT-2 inhibitors: SE
Polyuria, weight loss, UTIs
62
SGLT-2 inhibitors: e.g.
-fliozin
63
Menstruation: days
1-4
64
Menstruation: follicular / proliferative
5 - 13
65
Menstruation: ovulation
14
66
Menstruation: luteal / secretory
15-28
67
Ovulation is stimulated by..
LH surge
68
Causes of raised PRL
``` Prolactinoma Pregnancy Oestrogens Physiological Acromegaly PCOS Hypothryoid ```
69
Iatrogenic causes of PRL
``` Metoclopramide, domperidone Phenothiazines Haloperidol SSRIs Opioids ```
70
PCOS: features
``` Subfertility, Menstrual disturbances Obesity Hirsutism, acne Acanthosis nigricans ```
71
TSH receptor stimulating antibodies
Grave's disease
72
Anti-thyroid peroxidase antibodies
Grave's disease
73
TFTs: Thyrotoxicosis
TSH: low T4: high
74
TFTs: Primary hypothyroid
TSH: high T4: low
75
TFTs: Secondary hypothyroid
TSH: low T4: low
76
TFTs: Sick euthyroid
TSH: TSH T4: low
77
TFTs: Subclinical hypothyroid
TSH: high T4: normal
78
TFTs: Poor compliance thyroxine
TSH: T4 T4: normal
79
TFTs: steroids
TSH; low | T4: normal
80
Cushing's: ABG
Hypokalaemia metabolic alkalosis
81
Pseudohypoparathyroid: bloods
PTH: high Calcium: low PO4: high
82
Pseudohypoparathyroid: features
``` Short fourth and fifth metacarpals Shorts stature Cognitive impairment Obesity Round face ```
83
Nuclear scintigraphy - patchy uptake
toxic multinodular goitre
84
Klinefelter: Karotype
47, XXY
85
Klinefelter: features
``` Tall Lack of secondary sexual characteristics Small, firm testis Infertile Gynaecomastia Elevated gondatrophin ```
86
Kallman's features
delayed puberty hypogondaism anomisa LH and FSH low
87
HbA1C target in T1DM
48
88
9am cortisol 100-500...
Inconclusive | Requires short synacthen test
89
Water deprivation test: cranial cause
Urine osmolality Post fluid deprivation - low Post desmopressin - high
90
Impaired fasting glucose is a problem with...
Hepatic insulin resistance
91
Impaired glucose tolerance is a problem with...
Muscle insulin resistance
92
Causes of hypercholesterolaemia
Nephrotic syndrome Cholestasis Hypothyroid
93
Subclinical Hypothyroid: labs
Raised TSH | Normal T3/4
94
Grave's disease: features
Eye signs Pretibial myxoedema Thyroid acropachy