Endo Flashcards

1
Q

What is Abetalipoproteinemia?

Features?

A

Abetalipoproteinemia is rare autosomal recessive disorder

Features:
Failure to thrive
Steatorrhoea
Retinitis pigmentosa
Cerebellar signs
Absent deep tendon reflexes
Acanthocytosis
Hypocholesterolaemia
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2
Q

What is acromegaly?

Features?

Complications?

A

Excess growth hormone

Features:
Coarse facial features
Large tongue
Prognathism
Excessive sweating
Features of pituitary tumour
Galactorrhoea
Complications:
HTN
Diabetes
Cardiomyopathy
Colorectal Cancer
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3
Q

Investigation of Acromegaly?

A

Serum IGF-1 with serial GH measurements

OGTT to confirm diagnosis oif IGF-1 raised

Pituitary MRI - may show pituitary tumour

NOTE: no suppression of GH in OGTT

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4
Q

Management of Acromegaly?

A

Trans-sphenoidal Surgery (1st line)

Somatostatin Analogue:
- Octreotide (1st Line drug)

Dopamine Agonists:
- Bromocriptine

GH Receptor Antagonist:
- Pegvisomant (S/C administration)

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5
Q

What is addison’s disease?

What does it result in?

Features?

A

Autoimmune destruction of adrenal glands

Reduced cortisol and aldosterone

Features:
Lethargy
Weakness
N&V
Hyperpigmentation
Hypotension
Hypoglycaemia
Hyponatramia and Hyperkalaemia
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6
Q

Name causes of hypoadrenalism?

A

Primary:

  • TB
  • Metastases
  • Meningococcal Septicaemia (Waterhouse-Friderichsen)
  • HIV
  • Antiphospholipid
  • Addison’s disease

Secondary:
- Pituitary

Exogenous Glucocorticoid Therapy

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7
Q

Investigation of addison’s disease?

A

Short Synacthen test
- Plasma cortisol before and 30 mins after giving

9 am Cortisol
>500 - unlikely
<100 - abnormal
100-500 - ACTH stimulation test needed

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8
Q

Management of addison’s disease?

A

Hydrocortisone
Fludrocortisone

Also:
Patient education
MedicAlert Bracelet
Double glucocorticoid in illness

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9
Q

Addisonian crisis: Causes and Management

A

Causes:

  • Sepsis or surgery causing acute exacerbation of chronic insufficiency
  • Adrenal haemorrhage
  • Steroid withdrawal

Management:

  • Hydrocortisone 100mg IM or IV
  • 1L Normal saline
  • 6 hourly hydrocortisone until stable
  • Oral replacement after 24 hours. Reduce to maintenance over 3-4 days
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10
Q

What is androgen insensitivity syndrome?

Features?

Diagnosis?

Management?

A

X-Linked recessive
End organ resistance to testosterone

Genotypical male children (46XY) have female phenotype

Features:

  • Primary amennorhea
  • Undescended tests -> groin swelling
  • Breast development may occur

Diagnosis:
- Karyotype

Mangaement:

  • Counselling
  • Bilateral orchidectomy
  • Oestrogen
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11
Q

What is autoimmune polyendocrinopathy syndrome?

Which is the most common type?

A

APS Type 1 = Multiple Endocrine Deficiency Autoimmune Candidiasis (MEDAC): 2 of

  • Chronic mucocutaneous candidiasis
  • Addison’s disease
  • Primary hypoparathyroidism

APS Type 2 (most common) = Schmidt’s Syndrome: Addisons plus 1 of

  • Addisons
  • T1DM
  • Autoimmune Thyroid disease

NOTE: Both can also get vitiligo

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12
Q

What are the features of Bartter’s syndrome?

A
Polyuria
Polydipsia
Hypokalaemia
Normotension
Weakness
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13
Q

What is Canakinumab?

A

monoclonal antibody targeting interleukin-1β.

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14
Q

What is carbimazole used for?

Adverse features?

A

Management of thyrotoxicosis

Adverse features:

  • Agranulocytosis
  • Crosses placenta - may be used in low doses in pregnancy

Mechanism:
- Blocks thyroid peroxidase from coupling and iodinating tyrosine residues on thyroglobulin

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15
Q

What serotypes of HPV cause cervical cancer?

Other risk factors?

A

16
18
33

Smoking
HIV
Early intercourse
Many partners
High parity
Low socioeconomic status
COC
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16
Q

What is congenital adrenal hyperplasia?

What are the main types?

A

Autosomal recessive disorders
High ACTH due to low cortisol levels. This stimulates adrenal androgens that may virilize female infant

21-hydroxylase deficiency (90%)
11-beta hydroxylase deficiency (5%)
17-hydroxylase deficiency (very rare)

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17
Q

Features of congenital adrenal hyperplasia for each type?

A

21-hydroxylase deficiency features
virilisation of female genitalia
precocious puberty in males
60-70% of patients have a salt-losing crisis at 1-3 wks of age

11-beta hydroxylase deficiency features
virilisation of female genitalia
precocious puberty in males
hypertension
hypokalaemia

17-hydroxylase deficiency features
non-virilising in females
inter-sex in boys
hypertension

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18
Q

Features of congenital hypothyroidism?

A
Prolonged neonatal jaundice
Delayed mental and physical milestone
Short stature
Puffy face
Macroglossia
Hypotonia
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19
Q

Side effects of glucocorticoid therapy?

A

endocrine: impaired glucose regulation, increased appetite/weight gain, hirsutism, hyperlipidaemia
Cushing’s syndrome: moon face, buffalo hump, striae
musculoskeletal: osteoporosis, proximal myopathy, avascular necrosis of the femoral head
immunosuppression: increased susceptibility to severe infection, reactivation of tuberculosis
psychiatric: insomnia, mania, depression, psychosis
gastrointestinal: peptic ulceration, acute pancreatitis
ophthalmic: glaucoma, cataracts
suppression of growth in children
intracranial hypertension
neutrophilia

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20
Q

Side effects of mineralocorticoid therapy?

A

Fluid retention

HTN

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21
Q

Causes of cushing’s syndrome?

A

ACTH Dependent:

  • Cushings disease (80%) - pituitary secreting ACTH tumour
  • Ectopic ACTH

ACTH Independent:

  • Steroids
  • Adrenal adenoma
  • Adrenal carcinoma
  • Carney Complex (syndrome including cardiac myxoma)
  • Micronodular adrenal dysplasia
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22
Q

What is pseudo-cushings?

Who is it commonly seen in?

A

Mimics cushings

Alcohol excess
Severe depression

False positive dexamethasone suppression test or 24 hour urinary free cortisol

Insulin stress test may differentiate

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23
Q

Investigation in Cushing’s syndrome?

Confirmation and localisation test/

A

Confirm Cushing’s Syndrome:

  • Overnight dexamethasone suppression test
  • 24 hr free urinary cortisol

Localisation:

  • 9am Cortisol and midnight plasma ACTH. If ACTH suppressed, then non-ACTH dependent cause is likely
  • Low and high dose dexamethasone tests

Results:

  • Not suppressed by low dose (Secondary cause)
  • Suppressed by high, but not low (Cushing’s disease)
  • Not suppressed by either (ectopic ACTH)

If can’t differentiate between pituitary and ectopic ACTH:
- Petrosal sinus sampling

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24
Q

Causes of delayed puberty?

Differentiate by stature

A

Short Stature:

  • Turner’s Syndrome
  • Prader-Willi Syndrome
  • Noonan’s Syndrome

Normal Stature:

  • PCOS
  • Androgen insensitivity
  • Kallmann’s Syndrome
  • Klinefelter’s Syndrome
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25
Q

Diagnosis of T2DM?

A

Symptomatic:

  • Fasting glucose >= 7.0
  • Random Glucose >= 11.1

Asymptomatic:
- As above on two separate occasions

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26
Q

Normal glucose levels?

Glucose and HbA1c

A
<= 6.0 glucose
<= 41 HbA1c (5.9%)
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27
Q

Prediabetes?

Glucose and HbA1c

A

6.0-7.0 glucose
41-48 HbA1c

NOTE: HbA1c < 48 does not exclude diabetes

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28
Q

Diabetes?

Glucose and HbA1c

A
>= 7.0 glucose
>= 48 HbA1c (6.5%)
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29
Q

What is impaired fasting glucose?

A

A fasting glucose greater than or equal to 6.1 but less than 7.0 mmol/l implies impaired fasting glucose (IFG)

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30
Q

What is impaired glucose tolerance?

A

Impaired glucose tolerance (IGT) is defined as fasting plasma glucose less than 7.0 mmol/l and OGTT 2-hour value greater than or equal to 7.8 mmol/l but less than 11.1 mmol/l

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31
Q

Examples of GLP-1 mimetics?

What are their criteria for use?

What is the criteria to continue?

A

Increase insulin secretion. Inhibit glucagon secretion

Result in weight loss

Exanatide
Liraglutide

Uses if:
BMI >35 and problems with weight
BMI <35 and insulin use unacceptable

Criteria for continued use:

  • 11mmol/mol reduction HbA1c (1%)
  • 3% weight loss after 6 months
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32
Q

What are DPP-4 inhibitors?

Give examples

A

Oral
No weight gain
No hypoglycaemia

Vildagliptin
Sitagliptin

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33
Q

Management of T1DM

Target HbA1c

Frequency of self monitoring?

Blood glucose target?

A

=<48 (6.5%)

Self monitoring:
QDS
More often if pregnancy, sport or ill

Blood Glucose target?
5-7mmol/l on waking
4-7 mmol/l other times

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34
Q

When should Metformin be added to T1DM management?

A

If BMI >25

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35
Q

T1DM insulin of choice?

A

Basal-bolus with rapid acting insulin analogue before meals

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36
Q

Management of T2DM?

Target HbA1c?

When should second agent be added?

A
Target 48 (6.5%) (lifestyle + metformin)
Target 53 (7.0%) (drugs which cause hypoglycaemia i.e. sulfonylurea)

Second agent when 58 (7.5%)

Dietary advice (high fibre, low glycaemic index, low-fat dairy, oily fish).

Aim weight loss 5-10% if overweight

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37
Q

Management of T2DM?

What are the four oral antidiabetic drugs?

A
Metformin
Gliptin
Sulfonylurea
Pioglitazone
(SGLT-2 inhibitor)

Always begin with metformin unless this cannot be tolerated
- If not able to get under 7.5% and on dual therapy, add third agent
- If still not controlled –> insulin
OR if BMI >35: (Metformin, Sulphonylurea, GLP1-mimetic)

Cannot tolerate Metformin:
- Sulfonylurea/Gliptin/Pioglitazone

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38
Q

Target BP in diabetes? First line anti-hypertensive?

A

<140/80
<130/80 if end organ damage

ACEi first line

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39
Q

Management of T2 diabetes in Ramadan?

A

Long acting carbs at sunrise
Metformin (1/3 before, 2/3 after)
Sulfonylurea (switch to once daily after sunset)

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40
Q

Moderate risk in diabetic feet?

A

Deformity
Neuropathy
Non-critical limb ischaemia

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41
Q

Management of DKA?

Criteria for DKA?

A

Criteria:
glucose > 11 mmol/l or known diabetes mellitus
pH < 7.3
bicarbonate < 15 mmol/l
ketones > 3 mmol/l or urine ketones ++ on dipstick

Management:

  • Fluids (1L 1hr, 1L 2hr, 1L 2hr, 1L 4hr, 1L 4hr, 1L 6hr)
  • Insulin 0.1 unit/kg/hr
  • Once BG <15, add 5% dextrose
  • Correct hypokalaemia
  • Continue long acting insulin
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42
Q

What to do for DKA and K
>5.5
3.5-5-5
<3.5

A

> 5.5 - Nil
3.5-5.5 - 40mmol K
<3.5 - senior review

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43
Q

Management of diabetic neuropathy?

A

Amitryptyline, Duloxetine, Gabapentin or Pregabalin

Tramadol as rescue therapy

Topical capsaicin for localised neuropathic pain

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44
Q

Management of diabetic gastroparesis?

A

Metoclopramide
Domperidone
Erythromycin

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45
Q

List five disorders of sex development?

What is their pathogenesis?

A

1) Androgen insensitivity syndrome (46XY)
- defect in androgen recentor leading to end organ resistance
- Rudimentary vagina and testes. No uterus

2) 5-alpha reductase deficiency (46XY)
- inability to convert testosterone to dihydrotestosterone
- Ambiguous genitalia. Hypospadius. Virilization at puberty

3) Male pseudohermaphroditism (46XY)
- Testes but external genitalia female
- CAIS

4) Female pseudohermaphroditism (46XX)
- Ovaries but external genitalia male
- CAH

5) True hermaphroditism (46XX or 47XXY)
- Both ovarian and testicular tissue present

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46
Q

Features of Klinefelters? LH and Testosterone

Features?

A

LH - high
Testosterone - Low

Primary Hypogonadism

Taller than average
Lack of secondary sexual characteristics
Small, firm testes
Infertile
Gynaecomastia
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47
Q

Features of Kallman’s?
LH and Testosterone.
Features?

Management for fertility treatment?

A

LH - low
Testosterone - low

Hypogonadotrophic hypogonadism

Lack of smell
Delayed puberty
Cryptorchidism

Females:

  • HCG
  • FSH
  • IVF
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48
Q

Androgen insensitivity syndrome? LH and Testosterone.

Features?

A

LH - high
Testosterone - normal/high

Primary amenorrhoea
Undescended testes - groin swelling
Breast development

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49
Q

Testosterone secreting tumour? LH and Testosterone.

Features?

A

LH - low

Testosterone - high

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50
Q

Rules of Diabetics with DVLA

Key points

Rules of insulin

A

No severe hypoglycaemic event in last 12 months
Full hypoglycaemic awarenesss
Adequate control by regular monitoring
Understand risks

Insulin - can drive car if hypoglycaemic aware. No more than one event needing help in last 12 months

Annual review needed

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51
Q

Management of endometrial cancer?

Investigation?

A

Investigation:

  • PMB - 2WW
  • Trans-vaginal USS
  • Hysteroscopy with endometrial biopsy

MAnagement:

  • Local disease - Total abdominal hysterectomy
  • High risk - as above with radiotherapy
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52
Q

What is familial benign hypocalciuric hypercalcaemia?

A

Rare autosomal dominant

Asymptomatic hypercalcaemia

PTH often not suppressed

Decreased sensitivity to increase in extracellular calcium

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53
Q

Familial hypercholesterolaemia:

A

Autosomal dominant

Simon Broome Criteria for diagnosis

Management:

  • Specialist lipid clinic
  • High dose statins
  • Screen relatives
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54
Q

Features of gitelman’s syndrome?

A
Normotension
Hypokalaemia
Hypocalcuria
Hypomagnesaemia
Metabolic alkalosis
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55
Q

Features of glucagonoma?

Investigation?

Management?

A

Tumours in pancreas

Diabetes mellitus
VTE
Necrolytic migratory erythema

Serum glucagon >1000pg/ml

Management:

  • Resection
  • Octerotide
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56
Q

Features of Graves disease?

A
Thyrotoxicosis
Age 30-50
Women
Exophthalmos
Ophthalmoplegia
Pretibial myxoedema
Thyroid acropachy
TSH antibody 90%
anti-TPO antibody 55%
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57
Q

Management of Graves?

A

Titration - Carbimazole 40mg and reduced for 12-18 months to achieve euthyroid

Block and replace - Carbimazole 40mg. Add thyroxine when euthyroid

Radioiodine
- Contraindication - pregnancy, age <16, thyroid eye disease

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58
Q

Causes of gynaecomastia?

Drug causes?

A
Physiological
Kallmanns/ Klinefelters
Testicular Failure
Liver disease
Testicular Cancer
Ectopic tumour
Hyperthyroidism
Haemodialysis
Drugs:
Spironolactone
Cimetidine
Digoxin
Cannabis
Finasteride
Gonadorelin analogue
Oestrogen
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59
Q

Features of Hashimoto’s thyroiditis?

A

Autoimmune

Hypothyroid (although may be transient thyrotoxicosis)

Hypothyroid
Firm goitre, non-tender
Anti-TPO
Anti-Tg antibodies

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60
Q

What is hungry bone syndrome?

A

After parathyroidectomy

If hyperparathyroidism long standing:

  • Constant osteoclast stimulation (hypercalcamemia, lytic lesions)
  • Hormone falls rapidly and rapid re-mineralisation occurs

Can be painful
Can result in systemic hypocalcaemia

61
Q

Causes of hypercalcaemia?

A
  1. Primary hyperparathyroidism
  2. Malignancy

Other:

  • Sarcoid
  • Vit D excess
  • Acromegaly
  • Thyrotoxicosis
  • Milk-alkali syndrome
  • Thiazides, Calcium containing antacids
  • Dehydration
  • Addison’s disease
  • Paget’s disease
62
Q

Management of hypercalcaemia?

A

Normal saline (3-4L per day)

Bisphosphanates (take 2-3 days to work)

Calcitonin (quicker effect)

Steroids if sarcoidosis

63
Q

Hyperemesis Gravidarum

Referral criteria to hospital

Triad of features?

Management?

Complications?

A

Referral Criteria:

  • Unable to keep down liquids
  • Continue N&V with ketonuria and or weight loss
  • Confirmed or suspected comorbidity

Triad:

  • 5% weight loss
  • Dehydration
  • Electrolyte imbalance

Management:

  • Antihistamines / cyclizine
  • Ondansetron and metocroplramide
  • IV hydration

Complications:

  • Wernicke’s encephalopathy
  • Mallory-Weiss Tear
  • Central pontine myelinolysis
  • ATN
  • Small foetus, pre-term
64
Q

Causes of hyperkalaemia?

A
AKI
ACEi, ARB, Spironolactone, Ciclosporin, Heparin
Metabolic acidosis
Addison's
Rhabdomyolysis
Massive blood transfusion
65
Q

Management of hyperlipidaemia?

Who are there specific guidelines for?

Who may tests undestimate in?

When should you consider familial cause?

A

Primary Prevention:

  • 10 yr risk >10% or T1DM or GFR <60)
  • Atorvastatin 20mg

Secondary prevention:

  • IHD, PVD, CVD
  • Atorvastatin 80mg

Specific guidelines?

  • T1DM
  • eGFR <60
  • Familial

May underestimate in:

  • HIV
  • Mental health
  • Antipsychotics, corticosteroids, immunosuppressants
  • Autoimmune disorders

Consider it being familial if total cholesterol >7.5

66
Q

Lipid management in T1DM

A

Consider statin 20mg if T1DM and:

  • age 40+
  • diabetes for 10+ years
  • nephropathy
  • other CVD risk factors
67
Q

Lipid management in CKD

A

Atorvastatin 20mg

Increase dose if greater than 40% reduction in non-HDL not achieved and eGFR > 30mmol

68
Q

What is the maximal rate of correction of sodium in hypernatraemia?

A

0.5mmol/hr

69
Q

What is hyperosmolar hyperglycaemic state?

What is the serum osmolarity?

Triad of features?

A

Hyperglycaemia –> osmotic diuresis, severe dehydration, electrolyte deficiency

Serum osmolarity >320mosmol/kg

Features:

  1. Hypovolaemia
  2. Glucose >30 mmol with no significant ketones
  3. Osmolarity >320
70
Q

Management of HHS?

Monitoring?

A
  1. Fluid replacement (gradual)
    - aim positive balance 3-6L by 12 hours
  2. Normalise osmolality
  3. Normalise glucose

Monitoring:

  • Plot osmolarity (2Na+glucose+urea) and glucose hourly
  • Aim rate glucose fall 4-6mmol/hr
  • Fall sodium <10mmol/24hr
  • Target glucose 10-15mmol/L
71
Q

Causes of hypocalcaemia?

Management?

A
Vit D deficiency
CKD
Hypoparathyroid
Pseudohypoparathyroidism
Rhabdomyolosis
Magnesium deficiency
Massive blood transfusion
Acute pancreatits

Management:

  • IV replacement
  • 10ml of 10% solution over 10 minutes
  • Calcium gluconate
  • ECG monitoring
72
Q

Features of testosterone deficiency?

A
Loss of libido
Erectile dysfunction
Lethargy
Decreased muscle mass and strength
Reduced facial hair growth
IGT
73
Q

Causes of hypokalaemia

Separate by alkalosis and acidosis

A

Alkalosis

  • Vomiting
  • thiazide and loop diuretics
  • cushing’s
  • conns

Acidosis

  • Diarrhoea
  • Renal tubular acidosis
  • Acetazolamide
  • Partially treated DKA

ALSO: Magnesium deficiency

74
Q

Causes of hypokalaemia

Separate by HTN and not HTN

A

HTN

  • Cushing
  • Conn
  • Liddle
  • 11-beta hydroxylase deficiency

Without HTN

  • Diuretics
  • GI loss
  • Renal tubular acidosis
  • Barter’s Syndrome
  • Gitelman
75
Q

What is hypokalaemic periodic paralysis?

A

Rare autosomal dominant

Paralysis
Often at night

May be precipitated by carbohydrate meals

Rx: Lifelong supplementation

76
Q

Causes of hyponatraemia separated by:

Urinary Sodium

High - Hypovolaemic/Euvolaemic

Low - Sodium Depletion/Water Excess

A

Urinary sodium > 20 mmol/l

Sodium depletion, renal loss (patient often hypovolaemic)

  • Diuretics: thiazides, loop diuretics
  • Addison’s disease
  • Diuretic stage of renal failure

Patient often euvolaemic

  • SIADH (urine osmolality > 500 mmol/kg)
  • hypothyroidism

Urinary sodium < 20 mmol/l

Sodium depletion, extra-renal loss

  • diarrhoea, vomiting, sweating
  • burns, adenoma of rectum

Water excess (patient often hypervolaemic and oedematous)

  • secondary hyperaldosteronism: heart failure, liver cirrhosis
  • nephrotic syndrome
  • IV dextrose
  • psychogenic polydipsia
77
Q

Management of hyponatraemia?

Who should be fluid restricted?

Who should have vasopressin used?

A

Acute - <48hrs
Chronic - >48hrs

Fluid Restrict

  • Oedematous States (i.e. HF)
  • SIADH
  • Renal Failure
  • Psychogenic polydipsia

Vasopressin:
- Hypovolaemic hyponatraemia

78
Q

What is primary hypoparathyroidism?

Biochemistry and treatment

A

Primary Hypoparathyroidism

  • Reduced PTH
  • Low calcium, high phosphate
  • Treat with alfacalcidol
79
Q

Symptoms of hypoparathyrodism?

A

Tetany
Perioral paraesthesia
Trosseau’s sign (Spasm with inflating BP cuff)
Chvostek’s sign (tap parotid causes face muscles to twitch)
Prolong QT

80
Q

What is pseudohypoparathyroidism?

Investigation?

A

Target cells insensitive to PTH

  • Low IQ
  • Short Stature
  • Short 4/5th metacarpals
  • Low calcium, high phosphate, high PTH

Invfusion of PTH followed by urinary phosphate measurement helps differentiate between Type 1 (cell receptor defect complete) and Type 2 (intact cell receptor)

81
Q

What is pseudopseudohypoparathyroidism?

A

Similar phenotype to pseudohypoparathyroidism but normal biochemistry

Target cells insensitive to PTH

  • Low IQ
  • Short Stature
  • Short 4/5th metacarpals
82
Q

Causes of hypophosphataemia?

A
Alcohol excess
Acute liver failure
DKA
Refeeding
Primary hyperparathyroidism
Osteomalacia
Consequences:
RBC Haemolysis
WBC and Plt dysfunction
Muscle Weakness and Rhabdomyolysis
CNS dysfunction
83
Q

Features of hypopituitarism?

Biochemistry

A

Low peak GH in response to insulin induced hypoglycaemia
Low ACTH - tired, postural hypotension
Low Gonadotrophics - amenorrhoea
Low TSH - constipated

84
Q

Causes of hypothyroidism?

Name 7

A

Hashimoto’s thyroiditis

Subacute Thyroiditis (de Quervain’s)

Riedel Thyroiditis

Post Thyroidectomy

Drugs (lithium, amiodarone, carbimazole etc.)

Dietary iodine deficiency

Secondary (pituitary failure)

85
Q

Management of hypothyroidism?

What is target TSH?

What happens in pregnancy?

A

Start with 50-100mcg

If elderly/severe cardiac disease/severe hypothyroid - start with 25mcg

Slowly titrate every 8-12 weeks

Repeat TFTs 4 weeks after change made

Aim for TSH 0.5-2.5

Pregnancy:
Increase by 25-50mcg

86
Q

What reduces the absorption of levothyroxine?

A

Iron
Calcium Carbonate

These should be given at least 4 hours apart

87
Q

What is an insulinoma?

Investigation?

Management? - If not fit, then what?

A

Neuroendocrine tumour

From Pancreatic Islets of Langerhans cells

  • 10% multiple
  • 10% malignant
  • 50% will have MEN1

Features:

  • Hypoglycaemia early in morning or before meal
  • Rapid weight gain
  • High insulin
  • High C-Peptide

Investigation:

  • Supervised, prolonged fasting (up to 72 hours)
  • CT pancreas

Management:

  • Surgery
  • Diazoxide and somatostatin if not fit for surgery
88
Q

What is Kallmann’s syndrome?

A

Hypogonadotrophic Hypogonadism

  • Low FSH
  • Low LH
  • Low testosterone
  • Delayed puberty
  • Hypogonadism, cryptorchidism
  • Anosmia
89
Q

What is Klinefelter’s syndrome?

A

47 XXY

Taller than average
Lack of secondary sexual characteristics
Small, firm testes
Infertile
Gynaecomastia
Elevated gonadotrophin levels
Low Testosterone
90
Q

What is Liddle’s syndrome?

Management?

A

HTN
Hypokaleamia
Alkalosis

Autosomal dominant

Amiloride
Triamterene

91
Q

What is MODY?

Features?

A

Maturity onset diabetes of young

T2DM age <25 years

Autosomal dominant

Family history of early onset diabetes
Ketosis NOT a feature
Very sensitive to sulfonylurea

92
Q

MODY 3 gene defect?

Increased risk of???

A

HNF-1 alpha gene

Risk of HCC

93
Q

MODY 2 gene defect?

A

Glucokinase gene

94
Q

MODY 5 gene defect?

Features? (2)

A

HNF-1 beta gene

Liver and renal cysts

95
Q

MEN 1 - features and gene

A

Parathyroid (95%)
Pituitary (70%)
Pancreas (50%)

Also adrenal and thyroid

MEN1 gene

96
Q

MEN 2a - features and gene

A

Medullary Thyroid (70%)
Parathyroid (60%)
Phaeochromocytoma

RET Oncogene

97
Q

MEN 2b - features and gene

A

Medullary Thyroid
Phaeochromocytoma

Marfinoid Body Habitus
Neuromas

98
Q

What is a neuroblastoma?

Where does it arise?

Features?

Investigation?

A

Tumour from neural crest tissue of adrenal medulla and sympathetic nervous system

Age 20 months

Abdominal mass
Pallow, weight loss
Bone pain, limp
Hepatomegaly
Paraplegia
Proptosis

Investigation

  • Raised VMA and HVA
  • Calcification on AXR
  • Biopsy
99
Q

What is normoglycaemic ketoacidosis often seen with?q

A

SGLT-2 inhibitors

100
Q

Management of obesity?

A

Conservative - diet, exercise

Medical (only after at least 3 months of dietary and lifestyle)

    • orlistat
  • If BMI >28 with risk factors
  • If BMI >30
  • Use less than one year. Aim continued loss of 5% weight at 3 months

Surgical

  • failure of non-surgical measure
  • BMI >40 or BMI >35 and significant disease
  • Commits to long term follow up
101
Q

Features of phaeochromocytoma?

Investigation?

Management?

A

10% bilateral
10% malignant
10% extra-adrenal

HTN
Headache
Palpitaiton
Sweating
Anxiety

Investigation:
24hr urinary metanephrines

Surgery
Stabilise with alpha blocker then beta-blocker

102
Q

What is a pituitary adenoma?

How can they be classified?

What are the most common types?

Investigation?

A

Benign tumour of pituitary

Microadenoma <1cm
Macroadenoma >1cm
Hormonal Status - secretory/functioning or non-secretory

Prolactinoma -> non-functioning ->GH secreting -> ACTH secreting

Investigation:
Pituitary Blood Profile (GH, prolactin, ACTH, FH, LSH, TFT)
Formal visual field testing
MRI with contrast

103
Q

Treatment of prolactinoma?

A

Bromocriptine, Cabergoline (dopamine agonist)

Surgery (transsphenoidal)

104
Q

What are the features of PCOS?

Investigation?

A
Subfertility
infertility
Menstrual disturbance
Hisuitism
Acne
Obesity
Acanthosis Nigricans
Insulin resistance

Investigation:

  • Pelvic USS
  • LH, FSH (raised LH:FSH ratio)
  • IGT
  • Testosterone
105
Q

Management of PCOS?

General

Hirsuitism and Acne

Infertility

A

General

  • weight reduction
  • COC if needs contraception

Hirsuitism/Acne

  • COC or co-cyprindiol
  • Topical eflornithine
  • Spironolactone, flutamide, finasteride (secondary care)

Infertility

  • Weight reduction
  • Clomifene
  • Metformin
106
Q

Stages of post-partum thyroiditis?

What antibody is present?

Management?

A
  1. Thyrotoxicosis
  2. Hypothyroid
  3. Normal TFT

anti-thyroid peroxidase (90%)

Symptoms 2 weeks post partum

Management:

  • Propranolol for symptoms
  • Thyroxine when hypothyroid
107
Q

Screening of gestational diabetes in pregnancy?

Diagnostic thresholds?

Management?

A

OGTT at booking
OGTT at 24-28 weeks

Threshold:
Fasting Glucose =>5.6
2-hr glucose =>7.8

Management:
Diet
If not meeting target in 1-2 weeks - metformin
Add insulin if this is still not met

NOTE: If fasting glucose => 7 start insulin first
If fasting glucose 6-6.9 with macrosomia, hydramnios give insulin

Glibenclamide can be given if don’t tolerate metformin

108
Q

Risk factors for gestational diabetes?

A
BMI >30
Macrosomic Baby >4.5kg
Previous GD
1st Degree relative with diabetes
South Asian, Black Caribbean, Middle Eastern
109
Q

Management of pre-existing diabetes in pregnancy?

A

Weight loss if BMI >27
Only continue metformin. Start insulin

Folic acid 5mg/day until 12 weeks
Aspirin 75mg from 12 weeks

Anomaly scan at 20 weeks

110
Q

What happens to thyroxine-binding globulin in pregnancy?

A

Increase levels of TBG
Thus increase in total thyroxine

Does not affect free levels

111
Q

Management of thyrotoxicosis in pregnancy?

What is target free thyroxine levels?

A

Propylthiouracil in first trimester

Carbiazole in second and third trimester

Aim to keep in upper 1/3 of normal reference range

112
Q

What is primary hyperaldosteronism?

Features?

Investigation?

Management?

A

Adrenal Adenoma
Bilateral idiopathic adrenal hyperplasia (70%)

HTN
Hypokalaemia
Alkalosis

Aldosterone:Renin ratio (should be high)
CT Abdomen
Adrenal Vein sampling (this is to determine which side is secreting)

Surgery (adrenal adenoma)
Spironolactone (Bilateral Hyperplasia)

113
Q

What is primary hyperparathyroidism?

Causes?

Features?

Investigations?

A

Solitary adenoma (80%)
Hyperplasia (15%)
Multiple adenoma (4%)
Carcinoma (1%)

Polyuria, polydipsia
Peptic ulceration
Constipation
Bone pain
Renal stones
Depression
HTN

Raised Ca, Low PO
PTH raised or inappropriatly normal
MIBI

Management:
Total parathyroidectomy
Cinacalcet if unsuitable for surgery

114
Q

Management of primary hypertriglyceridaemia?

A

Fibrates

115
Q

Management of galactorrhoea?

A

Dopamine Agonists (i.e. bromocriptine)

116
Q

Causes of raised prolactin?

Features?

A

Features of excess prolactin

men: impotence, loss of libido, galactorrhoea
women: amenorrhoea, galactorrhoea

Causes of raised prolactin
prolactinoma
*pregnancy
oestrogens
physiological: stress, exercise, sleep
acromegaly: 1/3 of patients
polycystic ovarian syndrome
*primary hypothyroidism (due to thyrotrophin releasing hormone (TRH) stimulating prolactin release)
*Drug causes of raised prolactin
metoclopramide, domperidone
phenothiazines
haloperidol
very rare: SSRIs, opioids
117
Q

Indications for radioiodine therapy?

Contraindications?

A

Differentiated thyroid cancer
Toxic multinodular goitre
Graves disease refractory to medical management
Radiation exposure

Contraindications:
Pregnancy
Breastfeeding
Active Thyroid Eye Disease

118
Q

What is Renal Tubular Acidosis 1?

A

Distal - inability to secrete H+

Hypokalaemia
Nephrocalcinosis
Renal stones

Causes:
RA
SLE
Sjogren
Analgesic nephropathy
Amphotericin B toxicity
119
Q

What is Renal Tubular Acidosis 2?

A

Proximal - reduced HCO3 reabsorption

Hypokalaemia
Osteomalacia

Causes:
Fanconi Syndrome
Wilsons disease
Cystinosis
Acetazolamide
120
Q

What is Renal Tubular Acidosis 4?

A

Reduced aldosterone leading to reduced proximal tubular ammonium secretion

Hyperkalaemia

Causes:
Hypoaldosteronism
Diabetes

121
Q

What is Riedel’s Thyroiditis?

A

Hypothyroidism

Dense fibrous tissue replace normal thyroid parenchyma

Hard, fixed, painless goitre

Associated retroperitoneal fibrosis

122
Q

Adverse effects of SGLT-2 inhibitors?

A

Urinary and genital infection
Normoglycaemic ketoacidosis
Incease risk of lower limb amputation

123
Q

Causes of SIAHD?

Use a sieve

Management?

A

Malignancy: Small Cell Lung, Pancreas, prostate

Neuro: Stroke, SAH, SDH, Meningitis, Encephalitis, Abscess

Infection: TB, Pneumonia

Drugs: Sulfonylurea, SSRI, TCA, Carbamazepine, Vincristine, Cyclophosphamide

Other: PEEP, prophyria

Management:
Fluid restriction
Demeclocycline
ADH receptor antagonists

124
Q

What is subacute (de quervain’s) thyroiditis?

Phases?

Investigation?

Management?

A

Follow viral infection
Sx of hyperthyroidism

Phases:

  1. Hyperthyorid (painful goitre, raised ESR)
  2. Euthyorid
  3. Hypothyroid
  4. Return to normal

Investigation:
Reduced uptake of I131

Management:
Self limiting
NSAID for pain
Steroids if severe

125
Q

What is subclinical hyperthyroidism?

Causes?

Risks?

Management?

A

Normal serum T4 and T3
TSH below normal range

Causes:
Multinodular goitre
Excessive thyroxine

Risks:
AF
Osteoporosis
Dementia

Management:
Often self limit. Observe
If persistent, can use anti-thyroid agent as a trial

126
Q

What is subclinical hypothyroiidism?

Significance?

Mangement?

A

TSH raised
T3, T4 normal

Significance:
Risk progressing to hypothyroid 2-5% per year

Management:
TSH 4-10
- <65 with sx --> trial levothyroxine
- Older, watch and wait
- Asymptomatic - observe and repeat

TSH >10

  • Treat even if asymptomatic if <70
  • Older, watch and wait
127
Q

Mechanism of action of Thiazolidinediones?

A

PPAR-gamma receptor agonist

128
Q

Thyroid Cancer: Which are most common?

A
Papillary (70%)
Follicular (20%)
Medullary (5%)
Anaplastic (1%)
Lymphoma (rare) - associated with hashimoto's
129
Q

Monitoring of papillary and follicular thyroid cancer?

A

TBG

130
Q

Monitoring of medullary thyroid cancer?

A

Calcitonin

131
Q

Features of thyroid eye disease?

A

Exophthalmos
Conjunctival oedma
Optic Disc swelling Ophthalmoplegia
Inability to close eyes

Management:
Stop smoking
Topical lubricants
Steroids
Radiotherapy
Surgery
132
Q

Who with thyroid eye disease should be referred?

A
Unexplained deterioration in vision
Aware of change in intensity or quality of colour vision
One eye pop out
Corneal opacity
Cornea visible when eyelids closed
Disc swelling
133
Q

Management of thyroid storm?

A
Paracetamol
IV Propranolol
Propylthiouracil/Methimazole
Lugol's iodine
Dexamethasone (blocks conversion of T4 to T3)
134
Q

Causes of thyrotoxicosis?

A
Graves
Toxic nodular goitre
Acute phase of subacute thyroiditis
Acute phase of Hashimotos thyroiditis
Amiodarone therapy
135
Q

Investigation and management of toxic multinodular goitre?

A

Nuclear scintigraphy - patchy uptake

Treatment:
Radioiodine

136
Q

What is waterhouse-friderichsen syndrome?

Please give some example causes?

A

Adrenal gland failure secondary to previous adrenal haemorrhage caused by severe bacterial infection

Neisseria meningitidis: most common cause
Haemophilus influenzae
Pseudomonas aeruginosa
Escherichia coli
Streptococcus pneumoniae
137
Q

Why should patients with diabetes have increased frequency of retinal screening whilst pregnant?

A

Increased risk of retinopathy

138
Q

How long should avoid becoming pregnant after radioiodine treatment?

A

6 months

139
Q

What should you do if normal T4 but suppressed TSH?

A

Measure T3

Could be T3 thyrotoxicosis

140
Q

What should be measured if pregnant and known graves?

A

TSH antibody titre

They may cross the placenta and cause foetal issues

141
Q

Features of fanconi syndrome?

A

Type 2 Renal Tubular Acidosis
Polyuria
Polydipsia
Osteomalacia

142
Q

Causes of high anion gap metabolic acidosis?

A

Ketoacidosis
Uraemia
Lactate
Toxins (salicylates, ethylene glycol, methanol)

143
Q

Causes of normal anion gap metabolic acidosis?

A

Addison’s disease
Bicarbonate loss (GI or renal)
Chloride excess
Drugs

144
Q

Management of patient with addison’s and vomiting?

A

IM hydrocortisone if at home

If systemically unwell, admit for IV fluids and IV steroids

145
Q

What is beer potomania?

A

Cause of hyponatraemia which occurs due to low dietary intake of solutes

Urine osmolarity <100
(i.e. appropriate ADH suppression)

146
Q

Which T2DM medication is linked to pancreatitis?

A

Sitagliptin

147
Q

What should you do with aspirin in acute thyrotoxicosis? Why?

A

Stop aspirin as it can worsen the storm by displacing T4 from TBG

148
Q

What condition can CT contrast provoke?

A

The iodine in CT contrast can precipitate thyrotoxicosis or thyroid storm