Endocrine Flashcards
(158 cards)
1
Q
PC hyponatremia
A
N/V, anorexia, confusion, muscle cramps , seizures, coma
2
Q
Causes of hypovolemic hyponatremia
A
Pre-renal : Burns, D/V, pancreatitis
Renal: Diuretics, Addisons, nephropathy, osmotic diuresis
Salt loss in excess of H20 loss
3
Q
Causes of euvolemic hyponatremia
A
Dilutional hypoantremia due to intake of water in excess of kidneys ability to excrete.
SIADH, severe hypothyroidism, fluid overload, psychogenic polydipsia
4
Q
Causes of hypervolemic hyponatremia
A
Water excess = HF, cirrhosis, renal failure
5
Q
Functions of kidney
A
Secrete epo and renin. Regulate levels of Na+, K+, Cl-, phosphate, HCO3. Regulate acid base balance
6
Q
Pseudohyponatremia
A
hyperglycaemia, hyperlipidemia, hyperprolactinemia
7
Q
MOA bisphosphonates
A
Accumulate in bone matrix inhibit osteoclast action by blocking HMG-reductase. Reduced bone reabsorption and calcium uptake
8
Q
Indications for bisphosphonates
A
osteoporosis, hypercalcemia, metastasis/Pagets
9
Q
SE of bisphosphonates
A
Oesophageal irritation, headache, osteonecrosis of the jaw, hypocalcemia
10
Q
Osteomalacia
A
Inadequate mineralisation of bone. Due to vit D deficiency (CKD, poor diet, malabsorption
11
Q
PC osteomalacia
A
diffuse joint/bone pain, weakness, bowing of legs, compressed vertebrae, #NOF
12
Q
Signs of osteomalacia
A
Inv - low Ca2+, high PTH, high Alk phos
X-ray - craniotabes, cupped epiphyses
13
Q
Rapid correction of sodium
A
Pontine demyelinosis - demyelination and necrosis of central pons and corticospinal tracts leading to quadriplegia, ophthalmoplegia, pseudo bulbar palsy and coma
14
Q
Inv for hyponatremia
A
rule out pseudo causes - BM, cholesterol
TFT’s to rule out hypothyroid
U+E’s - Addisons (high K+, low Na+)
Urine osmolality - SIADH
15
Q
Mx hyponatremia
A
Stop all diuretics, SSRI’s
SIADH - fluid restriction, levels of sodium are normal just diluted
Acute + symptomatic = 3% hypertonic saline 150ml IV over 15 mins to rapidly replace ( don’t increase by over 10mmol/L in 24hrs)
Find the causes!!
16
Q
Severe acute hyponatremia
A
Cerebral oedema leading to brainstem herniation due to h20 shift from blood vessels to interstitial space.
17
Q
SIADH
A
Inappropriate ADH levels leads to fluid retention and hyponatremia. ADH acts to increase aquaporin insertion at the distal convoluted tubule. This leads to low osmolality. As the body retains h20 aldosterone is released to facilitate Na+ loss hence facilitation h20 loss down its concentration gradient.
18
Q
SIADH Inv
A
low Na+ and plasma osmolality
high urinary Na+ and urinary osmolality
normal thyroid function, no evidence of Addisons
19
Q
Mx SIADH
A
fluid restrict
ADH receptor antagonist - demeclocycline
find the cause!!
20
Q
Causes of SIADH
A
Ectopic ADH - SCLC Hypothyroidism Infections - pneumonia, TB, lung abcess, meningitis SAH, trauma, stroke, Drugs - SSRI's, carbamazepine,
21
Q
Hypernatremia PC
A
Na+ >145 Pc - thirst, polydipsia, polyuria, dehydration leading to weakness, seizures and coma
22
Q
Causes of hypernatreamia
A
hypovolemic - vomiting, sweating, burns = dehydration
euvolemic - diabetes insipidus (mass water loss)
hypervolemic - hyperaldosteronism, Cushing’s
Much rarer almost exclusively due to h20 deficit
23
Q
Causes of hypokalemia
A
reduced intake - malnutrition, chronic alcoholism
increased losses - vomiting, diarrhoea
Conn’s, cushings
diuretics, insulin OD, alkalosis, Bblocke
24
Q
Ranges of potassium
A
hypo < 3.5 moll/l
hyper > 5.5 moll/l
25
Potassium physiology
98% intracellular maintained by Na+/K+ pump. approx 87% absorbed @ proximal convulted tubule and thick ascending limb. Leaves 13 % variable for distal consulted reabsorption via aldosterone. Aldosterone = Na+ reabsorption and K+ excretion
26
PC hypokalemia
asymptomatic, hypotonia, hyporeflexia, cramps + tetany
27
ECG changes in hypokalemia
flattened t waves, increased PR and Qt interval , low volume QRS, ST depression
28
Potassium modulators
B2 agonists ie salbutamol stimulate Na+/K+ pump
Insulin drives K+ intracellularly
Alkalosis - low H+ levels in blood leads to H+/K+ exchange to increase blood H+ levels
29
Mx hypokalemia
mild + moderate (2.5 - 3.9) - oral K+ supplements
| severe (<2.5) IV 40mmol KCL in 1l 0.9 % Nacl (max 20mmol per hr)
30
Causes of hyperkalemia
```
rhabdomylosis, tumour lysis syndrome
Addison's , hypoaldosteronism
ACEi, potassium sparing diuretics, B blockers
Renal failure
Metabolic acidosis, DKA
```
31
PC hyperkalemia
tachycardia, palpitations - arrhythmias
| flaccid paralysis and weakness
32
ECG signs of hyperkalemia
Tall tented t waves, wide QRS, small p waves - risk of VF
33
Mx of hyperkalemia (>6.5)
IV calcium gluconate 10% 10ml - stabalise cardiac membrane
Nebulised salbutamol
IV 20% glucose and 10 Units insulin infusion
34
Posterior pituitary
ADH and oxytocin
35
1 vs 2 endocrine disease
```
1 = dysfunction of target organ
2 = pituitary dysfunction
```
36
Congenital adrenal hyperplasia
21 hydroxylase deficiency 46xxF leads to development of male characteristics muscle bulk, body hair and deep voice. Due to increased circulation androgens
37
Mineralocorticoid
Aldosterone produced by zona glomerulosa. Acts vasoconstrictor the efferent renal arteriole to increase filtration. Increases sodium retention and potassium excretion. Stimulates ADH release and thirst reflex
38
Glucocorticoids
Cortisol produced by the zona fasiculata. Causes gluconeogensis leading to hyperglycaemia. Protein catabolism leading to muscle wasting. Reduced calcium uptake - osteoporosis. Reduced immune response
39
Testing the pituitary
short synacthen - stimulate using acth
| dexamethasone suppression - halt cortisol secretion via -ve feedback
40
Causes of hypopituitarism
```
Iatrogenic - surgery, irradiation
Vascular - apoplexy, sheenans syndrome
Infiltrative - sarcoidosis, haemochromatosis
Neoplastic - metastasis, adenoma
Infective - TB, abcess
```
41
Function of oestrogen
2ndary sexual characteristics, inhibits bone reabsorption, alters lipid profile
42
Function of progesterone
maintains uterine lining, reduced contractility of uterine SM, reduced skin elastic
43
Apoplexy
Infarction of pituitary due to haemorrhage or schema linked to presence of pituitary adenoma. Increased risk in DM, DIC and anticoagulation.
44
PC of apoplexy
PC - severe onset headache, vomiting, meningism
visual loss and opthalmaplegia
(cavernous sinus compression)
45
Mx of apoplexy
confirm diagnosis with MRI, IV steroids and fluids to replace. V hard to differentiate from SAH
46
Sheenhan's syndrome
haemorrhage infarction of pituitary. Often due to post partum haemorraghe
47
Mass effect of pituitary adenoma
Classically gradual vision loss tunnel vision due to optic chiasm compression. Bitemporal hemianopia
Headache and nausea. Possible hyper/hypopituitary
48
Hyperpituitary problems
SIADH, acromegaly, Cushings syndrome, hyperthyroid, hyperprolactinemia
49
Causes of Cushings syndrome
```
ACTH dependent - Cushing's disease (benign adenoma)
ectopic ACTH (SCLC, thymic/pancreatic carcinoid)
```
ACTH independent - bilateral hyperplasia, adrenal adenoma
Exogenous steroids - inhalers, steroids
50
PC Cushings
central obesity - moon face, buffalo hump, wt gain
proximal muscle wasting
straie, easy bruising, fragile skin, acne and hirsutism
impotence, depression and insomnia
51
Complications of Cushings
HTN, DM, osteoporosis, metabolic syndrome
52
Investigation Cushings
24hr urinary cortisol
high Na+, low K+ (due to high aldosterone levels
high BP, high glucose
CT scan to look for adrenal/pituitary adenoma. CXR
dexamethasone supression - failure to suppress. ACTH levels for 1 vs 2
53
Mx Cushings
Transsphenodial surgery for pituitary adenoma
Reduce exogenous steroids
Bilateral adrenalectomy
Treatment of ectopic
54
Causes adrenal insufficiency
1st - Addisons
2nd - AI, TB and AIDS, Malignancy - breast, lung and kidney, Infarction, Waterhouse fredreich ( meningoccal sepeticima) . Amyloidosis and haemochromatosis. Post radiotherapy/ surgery
55
Adrenal crisis
Medical emergency PC hypovolemic shock, abdominal pain, hypoglycaemia, hypotension, confusion, dysarthria
56
Mx adrenal crisis
IV fluids 0.9% NaCl, 100mg IV hydrocortisone, correct hypoglycaemia. ECG to check for arrhythmias due to low K+
57
Inx adrenal insufficiency
low Na+, high K+
high ESR, urea
serum cortisol @ 9am >580nmol
short synacthen test failure to respond.
58
PC adrenal
hypoglycaemia, postural hypotension, N/V, abdo pain, wt loss, malaise, weakness, low Na+, K+
hyper pigmentation of buccal mucosa due to high ACTH
59
Differentiation of 1st and 2nd adrenal failure
1st - high acth, high renin, low cortisol
| 2nd - low acth, low renin
60
Causes of hyperaldosteronism
1 - Conn's syndrome (adrenal adenoma), bilateral adrenal hyperplasia, adrenal adenoma
2 - chronically increased renin levels due to HF, cirrhosis, renal artery stenosis, nephrotic syndrome
61
PC hyperaldosteronism
asymptomatic - hypertension, low K+, high Na+, metabolic alkolosis
62
Inv hyperaldosteronism
CT of kidneys looking for adenoma/ hyperplasia
fludrocortisone suppression test
renin:aldosterone (high in 2ndary disease) low renin due to -ve feedback in 1 disease
63
Mx hyperaldosteronism
potassium sparing diuretics
| adrenal adenalectomy for Conn's
64
Causes of hypothyroid
```
AI - atrophic thyroid, Hashimotos
Iodine deficiency
Infection
Sarcoidosis, neoplasm
Post surgery, radioiodine, drug induced - amiodarone, lithium
```
65
PC hypothyroid
wt gain, depression, cold intolerance, fatigue, weakness, low IQ, hypertension, pleural effusions, anaemia
dry hair, skin, loss of our 1/3rd eyebrow
bradycardia, constipation, carpal tunnel syndrome
SIADH, peripheral oedema
66
Hashimotos
AI condition antiTPO +ve. Progressive lymphocytic infiltration and fibrosis of thyroid tissue leads to dysfunction. PC = firm rubbery goitre
67
TFT's hypothyroid
1 - high TSH, low T4
2 - low TSH, low T4
subclinical disordered TFTs asymptomatic pt
68
Mx hypothyroid
levothyroxine used to replace titrate up using
1 - TSH levels
2 - T4 level @ upper limit
69
PC hyperthyroid
sweating, wt loss, increased appetite, tachycardia, AF
altered mood, irritable,
diarrhoea, polyuria, fine tremor
palmar erythema, congestive HF, muscle wasting, palmar erythema
70
Causes of hyperthyroid
Graves, toxic multi nodular goitre, toxic adenoma,
| TSHoma
71
Graves specific
```
thyroid acropatchy - clubbing
dermapathy @ pre tibal sites
exophthalmus and lid retraction
gritty eye movement and periorbital oedema
+ve TRab antibodies
```
72
SE of carbimazole
```
common = urticaria and rash
rare = agranulocytosis 2-8wks post commencement of treatment
```
73
Mx hyperthyroid
Graves = block and replace carbimazole and levothyrozxine
TSHoma - transphenoidal surgery
TMN - radioactive iodine
propanolol for symptomatic relief
74
Thyroid storm PC
PC - tachycardia, high output HF, hyperthermia, vomiting and diarrhoea, jaundice, renal failure, arrhythmias
75
PCOS
irregular menses, sub fertility, 12+ cysts on USS, acne and hirsutism
76
PC hypogonadism
Males - erectile dysfunction, osteopenia, low body hair, libido and muscle bulk
Females - infertility, amenorrhea, osteoporosis
77
Male hypogonadism
1 - Kleinfelters, Noonans, orchitis post mumps, trauma
2 - Kallman syndrome, increased stress, exercise,
Prader willi, haemochromatosis
Iatrogenic - anabolic steroid use
78
Subclinical thyroid disease
asymptomatic, deranged TFT's
79
Causes of hyperprolactinaemia
Dopamine inhibits prolactin secretion. High oestrogen and TRH levels stimulate its production from the pituitary.
- Physiological = pregnancy, lactation, stress
- Pathological
drugs - metaclomprimide, COCP, TCA, methyldopa,dopamine antagonists,
cirrhosis, renal failure, hypothyroidism, prolactin secreting pituitary adenoma
80
PC hyperprolactinaemia
F - galactorrhea, anovulatory amenorrhoea
| M - gynecomastia, erectile dysfunction
81
Mx prolactinoma
dopamine agonists - bromocriptine lead to reduced secretion and shrinkage of tutor. surgery only needed id symptoms of mass effect
serum prolactin > 500
82
Acromegaly
99% caused by GH producing pituitary adenoma
83
PC acromegaly
gradual and progressive sweating, tiredness and fatigue
facial features - frontal bossing, enlarged nose, macro glossia, wide dental spacing, coarse features
soft tissue swelling, large hands and feet
organomegaly
OA and carpal tunnel
84
Complications of acromegaly
HTN and DM - increased CVD risk
visual field defects
high risk of CRC and breast cancer
obstructive sleep aponea
85
Inv and Mx Acromegaly
high IGF-1, OGTT = failure to suppress GH <1ml
MRI of brain
high glucose, calcium and phosphate
transphenoid surgery / somastatin analogues
86
PC diabetes insipidus
PC - polyuria, polydipsia, dehydration
| hypernatremia
87
Pathophysiology of DI
Lack of ADH leads to low levels of aquaporin channels inserted into collecting ducts. This gives rise to a failure to concentrate urine hence excessive diuresis
88
Causes of DI
Cranial - Trauma, pituitary tumors, Sheenan's syndrome, meningitis. All lead to reduced production of ADH from post pituitary
Nephrogenic (poor response to ADH) PCKD, amyloidosis, CKD, low K+, high ca2+
Dipsogenic - over consumption of h20
89
Mx DI
synthetic ADH analogue (desmopressin) only effective for cranial causes.
90
Inv DI
fluid deprivation test can rule out dipsogenic causes
| desmopressin trial will lead to normalisation of urine output in those with a cranial cause
91
Calcium physiology
Low ca2+ is detected stimulating PTH release from parathyroid. This stimulate osteoclast activity to increase Ca2= reabsorption. It also increase absorption in the proximal and distal collecting tubules. Allows calcitriol to convert vit D to 1,25 dihydroxy to increase Ca2+ absorption from the gut
High Ca2+ parafollicular cells produce calcitonin to reduce absorption from the kidney and gut, and suppress osteoclast activity.
92
Hypercalcemia PC
```
thirst, polyuria - renal stones
weakness, myalgia - bone pain
anorexia and constipation - abode groans
mood change, confusion - psych moans
pathological #
```
Some of the symptoms are due to Na+ channels on synapses being less likely to open leading to reduced excitability. To compensate calcium is excreted in the urine and can precipitate to form stones
93
Causes of hypercalcemia
```
Malignancy - myeloma, PTHrp secretion
Renal failure
Sarcoidosis
Hyperparathyroidism
Addisons, phaechromocytoma, hypothyroid
Drugs - thiazide diuretics
```
94
Inv hypercalemia
high PTH - hyperparathyroid, PTHrp
low PTH - secondary causes
- normal ALP = myeloma, sarcoid
- high ALP = bone mets, hyperthyroid
95
Acidosis and hypoalbuminea
In acidosis high concentration of H+ in blood leads to albumin repelling Ca2+ reducing albumin bound calcium
In hypoalbuminemic states leads to reduced total calcium as apporx 50% is protein bound
96
Hyperparathyroidism
Post menopausal women, 50-70 y/o
Always look for link to MEN 1 and 2
85% benign parathyroid adenoma
97
PC hyperpararthyroid
asymptomatic for long periods
HTN due to renal calcification
stones, moans, groans and bones
98
Secondary hyperparathyroidism
vit D deficiency, chronic renal failure
99
Complications of hyperparathryoid
```
Osteoporosis @ hip/wrist
Renal stones and nephrocalcinosis
corneal calcification
pseudo gout
CVD and IHD due to calcification and renal failure
```
100
Inv hyperparathyroid
high PTH, Ca2+, ALK phos, low phosphate
| CT scan of parathyroid
101
Mx hyperparathyroid
Surgical removal
hydration and monitoring
calcinmet - Ca2+ receptor agonist
102
Osteitis fibrosis cystica
Advanced hyperparathyroidism leads to loss of bone mass and replacement with fibrous tissue formation of cyst like brown tumors. Characteristic on X-ray
103
Hypercalcemia of malignancy
Poor prognosis - 6 months.
20% - Local invasive osteolytic lesions this can present with bone pain, pathological # and MSCC. Due to myeloma, metastatic breast and lung cancer
80% - Humoral hypercalcemia due to production of PTHrp. This antagonises PTH binding to its receptors leading to increases osteoclast activity and hence CA2+ levels in the blood. Imvx - low PTH and vit D activity
Caused by squamous cell cancers, renal cervix, lung, bladder and oesophageal
104
Myeloma
Cancer arising from B cells uncontrolled production of paraprotein. Produces osteoclast activation factors which leads to increase osteoclast activity and hence bone weakness.
PC - CRAB, high Po4, high Ca2+, normal ALP
105
Hyperviscosity syndrome
increase blood viscosity due to polycythemia, myeloma or leukaemia. PC - epistaxis, gum bleeding, headaches, visual changes and hearing loss
106
Hypocalcemia PC
parathesia or extremities, carpopedal spasm, seizures, muscle twitching, anxiety and irritability. increased muscle tone - colic, dysphagia, stridor
Due to voltage gated Na+ depolarising more easily leading to involuntary muscle contraction
107
Causes of hypocalcemia
Chronic renal failure, osteoporosis, vit D defiency, hypoparathyroidism, rhabdomylosis, drug induced - bisphosphanates
Alkalosis leads to pseudo hypocalcemia due to less H+ ions so negatively charged albumin binds to Ca2+
108
Signs of hypocalcemia and Mx
Trousseaus - muscle cramps and twitching on application of BP cuff
Chvostek's - facial twitch when tapped over parotid gland
ECG - prolonged QTc
low Ca2+
Mx - vit D replace, calcium gluconate
109
Causes of hypoparathyroidism
Surgical removal
Di george - congenital abnormality of pharyngeal pouch formation
AI
Haemochromatosis
110
Renal failure and hypocalcemia
failure to hydroxylate vit D = reduced Ca2+ absorption from gut
failure to excrete phosphate which binds to Ca2+
111
Inv hypoparathyroid
low PTH, low Ca2+, low Po4
112
Osteoporosis
T score 2.5 = diagnostic. reduced bone mass with normal architecture seen clinically with low impact fragility fractures.
113
Bone mineral density
Measured with DEXA scan. Z score = age matched. T score = race, sex of peak adult
114
Risk factors for osteoporosis
1 - age, female, smoking + alcohol, low BMI,
| 2 - renal failure, drugs - steroids, heparin, malabsorption - coeliac, endocrine - cushings, high PTH, hypogonadism
115
PC fractures in osteoporosis
colles fracture - wrist outstretched hand
#NOF
wedge vertebral fracture
116
Mx osteoporosis
increase wt bearing exercise - tia chi, swimming
loose wt, stop smoking, reduce alcohol
Ca2+ and vit D supplementation
bisphosphanates
117
Diagnosing T2DM
symptoms - wt loss, polyuria, polydypsia +
- random glucose >11.1
- fasting glucose >7.0
- 2hr OGTT > 11.1
- Hba1c > 48
If no symptoms 2 x samples over 2 weeks
118
When not to use HbA1c
Renal failure/ haemolytic anaemia due to improper glycosolation of Hb
Acutely unwell
Rapidly changing, gestational or young
119
Risk factors for T2DM
FHx, obesity, PCOS, low exercise, low socioeconomic status, asian, HTN, hyperlipidemia
120
PC T1DM
wt loss, polyuria, polydipsia, DKA, BMI<25, often adolescent (before 50y/o)
6% chance of son T1DM if father
121
Pathogenesis DKA
inability to produce insulin due to destruction of the B islet cells in the pancreas. This lead to reduced glucose utilisation by tissue so levels in the blood increase. Proteolysis and lipolysis occur to find an alternative source for glucose, the break down of lipid yield free fat acids which give rise to ketones causing acidosis. High levels of glucose lead to an osmotic diuresis and hence volume depletion and electrolyte disturbance
122
Autoantibodies T1DM
Only used if unusual presentation, appear before onset 95% of children are +ve for GAD,ICA
C peptide - breakdown product of insulin can be used a surrogate marker of insulin production
123
Gestational diabetes
randome plasma glucose > 5.6
fasting glucose > 7.8
Screening with OGGT for those with BMI>30, PHx of gestational diabetes, macrocosmic baby, FHx,
124
Risks of gestational diabetes
Preg - eclampsia, still birth after 37wks, congenital abnormalities, IUGR, macrosomia
Mum - PPH, C-section/instrumental delivery, traumatic birth
Baby - hypothermia, hypoglycaemia, jaundice, shoulder dystocia,
125
MODY
PC - young age of onset, often incidental hypoglycaemia, lack of metabolic syndrome, can present with classical DM presentation
- Glucokinase (32%)
- Transcription factors (68%)
126
Insulin secretion
High levels of glucose reacts with the glucose receptor on the surface of the B islet cell. The enter the cell and are converted to glucose 6 phosphate by glucokinase. This provides ATP for K+ channels to open allowing insulin secretion to lower glucose levels.
127
Glucokinase MODY
Loss of function impairs glucose sensing by increasing threshold needed for insulin secretion.
PC - incidental findings/gestational diabetes, persistent high fasting glucose, no microvascular complications or extra pancreatic features
Mx - test parents/family
128
Transcription factor MODY
Role of B cell development genes
- HNF-1a and HNF-4a
- HNF-1B
129
HNF-1a and HNF-4a
PC - normoglycemia in childhood, develop hyperglycaemia in adolescent years, poor control can lead to complications
Mx - low dose sulponhylurea - glicazide
130
HNF-1B
PC renal cysts and diabetes, often co existing pancreatic and genitourinary abnormalities.
Mx - 50% may need dialysis, insulin
131
DIDMOAD
diabetets insipidus, diabetes mellitus, optic atrophy and deafness
132
Genetic conditions linked to DM
Downs
Turners - AI T1DM
Prader-willi - obesity and insatiable appetite
Kleinfelters - high truncal fat and insulin resistance
133
Neonatal diabetes
PC - birth to 6 months, often with IUGR, high glucose levels or DKA. Low C-peptide. Mutation @ B islet cells with the K+/ATP channel
134
Permanent neonatal diabetes
More severe form complete failure of insulin release K+ channel permanently open preventing insulin release. Need precise insulin therapy from birth. Often neurological involvement.
135
PC insulin resistance syndromes
persistent hyperglycaemia, acanthosis nigricans, PCOS,
136
Lipodystrophy syndromes
```
FPLD1= Loss of limb fat, increased truncal fat
FPLD2= loss of fatty tissue from the torso, buttocks, and limbs and a buildup of fat in the face, neck, shoulders and abdomenn
```
137
HIV and diabetes
4x increased risk in those related with HAART. Increased incidence of insulin resistance and diabetes
138
Small cell vs NSCLC
Small cell - ectopic ACTH, ADH, lamber eaton mesenteric syndrome
NSCLC - clubbing, hypercalcemia (PTHrp), hypertrophic osteoarthropathy
139
Differential of a neck lump
```
Lymphoma/ metastasis
Lymphadenopathy - infection
Thyroid cancer
goitre
thyroglossal cyst
```
140
Premature ovarian failure
low AMH, HRT essential until 50y/o to prevent osteoporosis. Progesterone replacement to prevent endometrial hyperplasia.
141
Phaechromocytoma
adrenal medullary catecholamine secreting tumour
PC hypertension, heat intolerance, sweating
headache palpitations, chest pain
142
Inv and Mx phaechromocytoma
plasma metanephrines, CT renal.
?MEN
alpha blockers to reduce symptoms
surgery to resect tumour - v tricky high vascular and can lead to mass adrenaline release
143
HAART and Cushings
CYP450 inhibitors leading to reduced breakdown of steroids can induce Cushings syndrome
144
Adrenal crisis
Anyone on long term steroids who is unwell PC hypotension, reduced GCS and abod pain. IV hydrocortisone stat. Fluids won't improve due to lack of ADH and angiotensin II
145
De Quervains thyroiditis
PC - sore throat, tremor, painful swollen neck
triggered by viral illness - mumps, influenza
Initial phase = follicular destruction - hyperthyroid T4 release. 2ndary hypothyroid due to inflammation and -ve feedback. globally reduced uptake on DAT
146
Differentials of goitre
De quervians - painful goitre
TMN - nodular goitre widespread nodular uptake on sean
Toxic adenoma - hot spot on scan
Thyroglossal cyst - tethered moves forward on tongue protrusion
Graves - diffuse goitre +/- bruit, Graves eye signs, acropatchy, pre tibal dermopathy
147
MEN 1
parathyroid neoplasia, pituitary adenoma (often prolactinoma), pancreatic tumours - zollinger elision etc
148
MEN 2A
medullary thyroid cancer, parathyroid hyperplasia, phaechromocytoma
149
MEN 2B
medullary thyroid cancer, phaechromcytoma, marfainoid body habitus + muscosal neuromas
150
PC thyroid cancer
often euthyroid, lump in neck often painless, cervical lymphadenopathy. symptoms of mass effect i.e. SVC obstruction, dysphagia
151
Anaplastic thyroid cancer
very poor prognosis, rare rapid undifferentiated growth local lymph and blood spread
152
Papillary thyroid cancer
80% of cancer linked to radiation exposure, FAP and cowden syndrome. 20-40y/o Mx total thyroidectomy 95% 5yr survival
153
Bartter syndrome
Consists of a metabolic alkalosis, hypokalemia, hypercalciuria and occasionally hypomagnesaemia. Presents clinically similar to treatment with loop diuretics
Defect in the Na+/K+/Cl- cotransporter in thick ascending loop of Henle. The Na+ loss leads to volume depletion and RAS activation, increased aldosterone = K+ secretion hence hypokalemia and metabolic alkalosis (increased H+ loss)
154
Gietlman syndrome
Consists of a metabolic alkalosis, hypokalemia, hypocalciuria and hypomagnesaemia. Present clinically similar as treatment with thiazide diuretics.
Defective Na+/Cl- cotransporter. As with Bartter syndrome increase Na+ delivery to the collecting duct leads tot RAS activation, increased aldosterone production and a reflex hypokalemia and metabolic alkalosis
Hypocalciuria due to continued Cl- efflux hyperpolarises the basolateral membrane leading to Ca2+ reabsorption
155
MODY gluokinase
lack of extrapancreatic features and symptoms, mild fasting hyperglycaemia family history of a similarly mild diabetic illness. These patients mostly do not require treatment.
GCK - glucokinase
156
Hypogonadotrophic hypogonadism
Caused by structural (adenoma), infiltrative -haemochromatosis, Kallman's - no GnRH, functional gonadotrophin deficiency due to stress, excess exercise,
157
Hypergonadotrophic hypogonadism
Turners , kleinfelters. Primary abnormalities with the testes. Mumps, infections
158
Congenital Generalised Lipodystrophy
Autosomal recessive and very rare. Presents with a generalised absence of adipose tissue, increased appetite, absence of leptin and DM develops within 10-20 years. Is most common in females who can present with acanthosis nigricans, hepatomegally, PCOS and insulin resistance.
