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
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
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
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)
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
6
Q
Name causes of hypoadrenalism?
A
Primary:
- TB
- Metastases
- Meningococcal Septicaemia (Waterhouse-Friderichsen)
- HIV
- Antiphospholipid
- Addison’s disease
Secondary:
- Pituitary
Exogenous Glucocorticoid Therapy
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
8
Q
Management of addison’s disease?
A
Hydrocortisone
Fludrocortisone
Also:
Patient education
MedicAlert Bracelet
Double glucocorticoid in illness
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
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
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
12
Q
What are the features of Bartter’s syndrome?
A
Polyuria Polydipsia Hypokalaemia Normotension Weakness
13
Q
What is Canakinumab?
A
monoclonal antibody targeting interleukin-1β.
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
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
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)
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
18
Q
Features of congenital hypothyroidism?
A
Prolonged neonatal jaundice Delayed mental and physical milestone Short stature Puffy face Macroglossia Hypotonia
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
20
Q
Side effects of mineralocorticoid therapy?
A
Fluid retention
HTN
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
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
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
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
25
Diagnosis of T2DM?
Symptomatic:
- Fasting glucose >= 7.0
- Random Glucose >= 11.1
Asymptomatic:
- As above on two separate occasions
26
Normal glucose levels?
| Glucose and HbA1c
```
<= 6.0 glucose
<= 41 HbA1c (5.9%)
```
27
Prediabetes?
| Glucose and HbA1c
6.0-7.0 glucose
41-48 HbA1c
NOTE: HbA1c < 48 does not exclude diabetes
28
Diabetes?
| Glucose and HbA1c
```
>= 7.0 glucose
>= 48 HbA1c (6.5%)
```
29
What is impaired fasting glucose?
A fasting glucose greater than or equal to 6.1 but less than 7.0 mmol/l implies impaired fasting glucose (IFG)
30
What is impaired glucose tolerance?
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
31
Examples of GLP-1 mimetics?
What are their criteria for use?
What is the criteria to continue?
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
32
What are DPP-4 inhibitors?
Give examples
Oral
No weight gain
No hypoglycaemia
Vildagliptin
Sitagliptin
33
Management of T1DM
Target HbA1c
Frequency of self monitoring?
Blood glucose target?
=<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
34
When should Metformin be added to T1DM management?
If BMI >25
35
T1DM insulin of choice?
Basal-bolus with rapid acting insulin analogue before meals
36
Management of T2DM?
Target HbA1c?
When should second agent be added?
```
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
37
Management of T2DM?
What are the four oral antidiabetic drugs?
```
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
38
Target BP in diabetes? First line anti-hypertensive?
<140/80
<130/80 if end organ damage
ACEi first line
39
Management of T2 diabetes in Ramadan?
Long acting carbs at sunrise
Metformin (1/3 before, 2/3 after)
Sulfonylurea (switch to once daily after sunset)
40
Moderate risk in diabetic feet?
Deformity
Neuropathy
Non-critical limb ischaemia
41
Management of DKA?
Criteria for DKA?
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
42
What to do for DKA and K
>5.5
3.5-5-5
<3.5
>5.5 - Nil
3.5-5.5 - 40mmol K
<3.5 - senior review
43
Management of diabetic neuropathy?
Amitryptyline, Duloxetine, Gabapentin or Pregabalin
Tramadol as rescue therapy
Topical capsaicin for localised neuropathic pain
44
Management of diabetic gastroparesis?
Metoclopramide
Domperidone
Erythromycin
45
List five disorders of sex development?
What is their pathogenesis?
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
46
Features of Klinefelters? LH and Testosterone
| Features?
LH - high
Testosterone - Low
Primary Hypogonadism
```
Taller than average
Lack of secondary sexual characteristics
Small, firm testes
Infertile
Gynaecomastia
```
47
Features of Kallman's?
LH and Testosterone.
Features?
Management for fertility treatment?
LH - low
Testosterone - low
Hypogonadotrophic hypogonadism
Lack of smell
Delayed puberty
Cryptorchidism
Females:
- HCG
- FSH
- IVF
48
Androgen insensitivity syndrome? LH and Testosterone.
| Features?
LH - high
Testosterone - normal/high
Primary amenorrhoea
Undescended testes - groin swelling
Breast development
49
Testosterone secreting tumour? LH and Testosterone.
| Features?
LH - low
| Testosterone - high
50
Rules of Diabetics with DVLA
Key points
Rules of insulin
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
51
Management of endometrial cancer?
Investigation?
Investigation:
- PMB - 2WW
- Trans-vaginal USS
- Hysteroscopy with endometrial biopsy
MAnagement:
- Local disease - Total abdominal hysterectomy
- High risk - as above with radiotherapy
52
What is familial benign hypocalciuric hypercalcaemia?
Rare autosomal dominant
Asymptomatic hypercalcaemia
PTH often not suppressed
Decreased sensitivity to increase in extracellular calcium
53
Familial hypercholesterolaemia:
Autosomal dominant
Simon Broome Criteria for diagnosis
Management:
- Specialist lipid clinic
- High dose statins
- Screen relatives
54
Features of gitelman's syndrome?
```
Normotension
Hypokalaemia
Hypocalcuria
Hypomagnesaemia
Metabolic alkalosis
```
55
Features of glucagonoma?
Investigation?
Management?
Tumours in pancreas
Diabetes mellitus
VTE
Necrolytic migratory erythema
Serum glucagon >1000pg/ml
Management:
- Resection
- Octerotide
56
Features of Graves disease?
```
Thyrotoxicosis
Age 30-50
Women
Exophthalmos
Ophthalmoplegia
Pretibial myxoedema
Thyroid acropachy
TSH antibody 90%
anti-TPO antibody 55%
```
57
Management of Graves?
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
58
Causes of gynaecomastia?
Drug causes?
```
Physiological
Kallmanns/ Klinefelters
Testicular Failure
Liver disease
Testicular Cancer
Ectopic tumour
Hyperthyroidism
Haemodialysis
```
```
Drugs:
Spironolactone
Cimetidine
Digoxin
Cannabis
Finasteride
Gonadorelin analogue
Oestrogen
```
59
Features of Hashimoto's thyroiditis?
Autoimmune
Hypothyroid (although may be transient thyrotoxicosis)
Hypothyroid
Firm goitre, non-tender
Anti-TPO
Anti-Tg antibodies
60
What is hungry bone syndrome?
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
Causes of hypercalcaemia?
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
Management of hypercalcaemia?
Normal saline (3-4L per day)
Bisphosphanates (take 2-3 days to work)
Calcitonin (quicker effect)
Steroids if sarcoidosis
63
Hyperemesis Gravidarum
Referral criteria to hospital
Triad of features?
Management?
Complications?
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
Causes of hyperkalaemia?
```
AKI
ACEi, ARB, Spironolactone, Ciclosporin, Heparin
Metabolic acidosis
Addison's
Rhabdomyolysis
Massive blood transfusion
```
65
Management of hyperlipidaemia?
Who are there specific guidelines for?
Who may tests undestimate in?
When should you consider familial cause?
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
Lipid management in T1DM
Consider statin 20mg if T1DM and:
- age 40+
- diabetes for 10+ years
- nephropathy
- other CVD risk factors
67
Lipid management in CKD
Atorvastatin 20mg
| Increase dose if greater than 40% reduction in non-HDL not achieved and eGFR > 30mmol
68
What is the maximal rate of correction of sodium in hypernatraemia?
0.5mmol/hr
69
What is hyperosmolar hyperglycaemic state?
What is the serum osmolarity?
Triad of features?
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
Management of HHS?
Monitoring?
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
Causes of hypocalcaemia?
Management?
```
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
Features of testosterone deficiency?
```
Loss of libido
Erectile dysfunction
Lethargy
Decreased muscle mass and strength
Reduced facial hair growth
IGT
```
73
Causes of hypokalaemia
Separate by alkalosis and acidosis
Alkalosis
- Vomiting
- thiazide and loop diuretics
- cushing's
- conns
Acidosis
- Diarrhoea
- Renal tubular acidosis
- Acetazolamide
- Partially treated DKA
ALSO: Magnesium deficiency
74
Causes of hypokalaemia
Separate by HTN and not HTN
HTN
- Cushing
- Conn
- Liddle
- 11-beta hydroxylase deficiency
Without HTN
- Diuretics
- GI loss
- Renal tubular acidosis
- Barter's Syndrome
- Gitelman
75
What is hypokalaemic periodic paralysis?
Rare autosomal dominant
Paralysis
Often at night
May be precipitated by carbohydrate meals
Rx: Lifelong supplementation
76
Causes of hyponatraemia separated by:
Urinary Sodium
High - Hypovolaemic/Euvolaemic
Low - Sodium Depletion/Water Excess
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
Management of hyponatraemia?
Who should be fluid restricted?
Who should have vasopressin used?
Acute - <48hrs
Chronic - >48hrs
Fluid Restrict
- Oedematous States (i.e. HF)
- SIADH
- Renal Failure
- Psychogenic polydipsia
Vasopressin:
- Hypovolaemic hyponatraemia
78
What is primary hypoparathyroidism?
Biochemistry and treatment
Primary Hypoparathyroidism
- Reduced PTH
- Low calcium, high phosphate
- Treat with alfacalcidol
79
Symptoms of hypoparathyrodism?
Tetany
Perioral paraesthesia
Trosseau's sign (Spasm with inflating BP cuff)
Chvostek's sign (tap parotid causes face muscles to twitch)
Prolong QT
80
What is pseudohypoparathyroidism?
Investigation?
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
What is pseudopseudohypoparathyroidism?
Similar phenotype to pseudohypoparathyroidism but normal biochemistry
Target cells insensitive to PTH
- Low IQ
- Short Stature
- Short 4/5th metacarpals
82
Causes of hypophosphataemia?
```
Alcohol excess
Acute liver failure
DKA
Refeeding
Primary hyperparathyroidism
Osteomalacia
```
```
Consequences:
RBC Haemolysis
WBC and Plt dysfunction
Muscle Weakness and Rhabdomyolysis
CNS dysfunction
```
83
Features of hypopituitarism?
Biochemistry
Low peak GH in response to insulin induced hypoglycaemia
Low ACTH - tired, postural hypotension
Low Gonadotrophics - amenorrhoea
Low TSH - constipated
84
Causes of hypothyroidism?
Name 7
Hashimoto's thyroiditis
Subacute Thyroiditis (de Quervain's)
Riedel Thyroiditis
Post Thyroidectomy
Drugs (lithium, amiodarone, carbimazole etc.)
Dietary iodine deficiency
Secondary (pituitary failure)
85
Management of hypothyroidism?
What is target TSH?
What happens in pregnancy?
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
What reduces the absorption of levothyroxine?
Iron
Calcium Carbonate
These should be given at least 4 hours apart
87
What is an insulinoma?
Investigation?
Management? - If not fit, then what?
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
What is Kallmann's syndrome?
Hypogonadotrophic Hypogonadism
- Low FSH
- Low LH
- Low testosterone
- Delayed puberty
- Hypogonadism, cryptorchidism
- Anosmia
89
What is Klinefelter's syndrome?
47 XXY
```
Taller than average
Lack of secondary sexual characteristics
Small, firm testes
Infertile
Gynaecomastia
Elevated gonadotrophin levels
Low Testosterone
```
90
What is Liddle's syndrome?
Management?
HTN
Hypokaleamia
Alkalosis
Autosomal dominant
Amiloride
Triamterene
91
What is MODY?
Features?
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
MODY 3 gene defect?
Increased risk of???
HNF-1 alpha gene
Risk of HCC
93
MODY 2 gene defect?
Glucokinase gene
94
MODY 5 gene defect?
Features? (2)
HNF-1 beta gene
Liver and renal cysts
95
MEN 1 - features and gene
Parathyroid (95%)
Pituitary (70%)
Pancreas (50%)
Also adrenal and thyroid
MEN1 gene
96
MEN 2a - features and gene
Medullary Thyroid (70%)
Parathyroid (60%)
Phaeochromocytoma
RET Oncogene
97
MEN 2b - features and gene
Medullary Thyroid
Phaeochromocytoma
Marfinoid Body Habitus
Neuromas
98
What is a neuroblastoma?
Where does it arise?
Features?
Investigation?
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
What is normoglycaemic ketoacidosis often seen with?q
SGLT-2 inhibitors
100
Management of obesity?
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
Features of phaeochromocytoma?
Investigation?
Management?
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
What is a pituitary adenoma?
How can they be classified?
What are the most common types?
Investigation?
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
Treatment of prolactinoma?
Bromocriptine, Cabergoline (dopamine agonist)
Surgery (transsphenoidal)
104
What are the features of PCOS?
Investigation?
```
Subfertility
infertility
Menstrual disturbance
Hisuitism
Acne
Obesity
Acanthosis Nigricans
Insulin resistance
```
Investigation:
- Pelvic USS
- LH, FSH (raised LH:FSH ratio)
- IGT
- Testosterone
105
Management of PCOS?
General
Hirsuitism and Acne
Infertility
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
Stages of post-partum thyroiditis?
What antibody is present?
Management?
1. Thyrotoxicosis
2. Hypothyroid
3. Normal TFT
anti-thyroid peroxidase (90%)
Symptoms 2 weeks post partum
Management:
- Propranolol for symptoms
- Thyroxine when hypothyroid
107
Screening of gestational diabetes in pregnancy?
Diagnostic thresholds?
Management?
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
Risk factors for gestational diabetes?
```
BMI >30
Macrosomic Baby >4.5kg
Previous GD
1st Degree relative with diabetes
South Asian, Black Caribbean, Middle Eastern
```
109
Management of pre-existing diabetes in pregnancy?
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
What happens to thyroxine-binding globulin in pregnancy?
Increase levels of TBG
Thus increase in total thyroxine
Does not affect free levels
111
Management of thyrotoxicosis in pregnancy?
What is target free thyroxine levels?
Propylthiouracil in first trimester
Carbiazole in second and third trimester
Aim to keep in upper 1/3 of normal reference range
112
What is primary hyperaldosteronism?
Features?
Investigation?
Management?
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
What is primary hyperparathyroidism?
Causes?
Features?
Investigations?
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
Management of primary hypertriglyceridaemia?
Fibrates
115
Management of galactorrhoea?
Dopamine Agonists (i.e. bromocriptine)
116
Causes of raised prolactin?
Features?
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
Indications for radioiodine therapy?
Contraindications?
Differentiated thyroid cancer
Toxic multinodular goitre
Graves disease refractory to medical management
Radiation exposure
Contraindications:
Pregnancy
Breastfeeding
Active Thyroid Eye Disease
118
What is Renal Tubular Acidosis 1?
Distal - inability to secrete H+
Hypokalaemia
Nephrocalcinosis
Renal stones
```
Causes:
RA
SLE
Sjogren
Analgesic nephropathy
Amphotericin B toxicity
```
119
What is Renal Tubular Acidosis 2?
Proximal - reduced HCO3 reabsorption
Hypokalaemia
Osteomalacia
```
Causes:
Fanconi Syndrome
Wilsons disease
Cystinosis
Acetazolamide
```
120
What is Renal Tubular Acidosis 4?
Reduced aldosterone leading to reduced proximal tubular ammonium secretion
Hyperkalaemia
Causes:
Hypoaldosteronism
Diabetes
121
What is Riedel's Thyroiditis?
Hypothyroidism
Dense fibrous tissue replace normal thyroid parenchyma
Hard, fixed, painless goitre
Associated retroperitoneal fibrosis
122
Adverse effects of SGLT-2 inhibitors?
Urinary and genital infection
Normoglycaemic ketoacidosis
Incease risk of lower limb amputation
123
Causes of SIAHD?
Use a sieve
Management?
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
What is subacute (de quervain's) thyroiditis?
Phases?
Investigation?
Management?
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
What is subclinical hyperthyroidism?
Causes?
Risks?
Management?
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
What is subclinical hypothyroiidism?
Significance?
Mangement?
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
Mechanism of action of Thiazolidinediones?
PPAR-gamma receptor agonist
128
Thyroid Cancer: Which are most common?
```
Papillary (70%)
Follicular (20%)
Medullary (5%)
Anaplastic (1%)
Lymphoma (rare) - associated with hashimoto's
```
129
Monitoring of papillary and follicular thyroid cancer?
TBG
130
Monitoring of medullary thyroid cancer?
Calcitonin
131
Features of thyroid eye disease?
Exophthalmos
Conjunctival oedma
Optic Disc swelling Ophthalmoplegia
Inability to close eyes
```
Management:
Stop smoking
Topical lubricants
Steroids
Radiotherapy
Surgery
```
132
Who with thyroid eye disease should be referred?
```
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
Management of thyroid storm?
```
Paracetamol
IV Propranolol
Propylthiouracil/Methimazole
Lugol's iodine
Dexamethasone (blocks conversion of T4 to T3)
```
134
Causes of thyrotoxicosis?
```
Graves
Toxic nodular goitre
Acute phase of subacute thyroiditis
Acute phase of Hashimotos thyroiditis
Amiodarone therapy
```
135
Investigation and management of toxic multinodular goitre?
Nuclear scintigraphy - patchy uptake
Treatment:
Radioiodine
136
What is waterhouse-friderichsen syndrome?
Please give some example causes?
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
Why should patients with diabetes have increased frequency of retinal screening whilst pregnant?
Increased risk of retinopathy
138
How long should avoid becoming pregnant after radioiodine treatment?
6 months
139
What should you do if normal T4 but suppressed TSH?
Measure T3
Could be T3 thyrotoxicosis
140
What should be measured if pregnant and known graves?
TSH antibody titre
They may cross the placenta and cause foetal issues
141
Features of fanconi syndrome?
Type 2 Renal Tubular Acidosis
Polyuria
Polydipsia
Osteomalacia
142
Causes of high anion gap metabolic acidosis?
Ketoacidosis
Uraemia
Lactate
Toxins (salicylates, ethylene glycol, methanol)
143
Causes of normal anion gap metabolic acidosis?
Addison's disease
Bicarbonate loss (GI or renal)
Chloride excess
Drugs
144
Management of patient with addison's and vomiting?
IM hydrocortisone if at home
If systemically unwell, admit for IV fluids and IV steroids
145
What is beer potomania?
Cause of hyponatraemia which occurs due to low dietary intake of solutes
Urine osmolarity <100
(i.e. appropriate ADH suppression)
146
Which T2DM medication is linked to pancreatitis?
Sitagliptin
147
What should you do with aspirin in acute thyrotoxicosis? Why?
Stop aspirin as it can worsen the storm by displacing T4 from TBG
148
What condition can CT contrast provoke?
The iodine in CT contrast can precipitate thyrotoxicosis or thyroid storm
MRCP2
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