Disease Profiles 2 Flashcards
1
Q
Goitre
A
Enlarged palpable thyroid gland that moves on swallowing
2
Q
Goitre: Pathophysiology
A
Reduced T3 and T4 production causes a rise in TSH that stimulates gland enlargement
3
Q
Goitre: Aetiologies - Physiological
A
Puberty
Pregnancy
4
Q
Goitre: Aetiologies - Autoimmune Disease (2)
A
Hashimoto’s Thyroiditis
Graves Disease
5
Q
Goitre: Aetiologies - Endemic (2)
A
Iodine deficiency
Ingestion of Goitrogens - chemicals that exaggerate the effects of iodine deficiency
6
Q
Goitre: Aetiologies - Inflammatory disease
A
Acute De Quervain’s Thyroiditis
7
Q
Goitre: Pathophysiology - What develops if compensation fails?
A
Goitrous hypothyroidism state
8
Q
Goitre: Pathophysiology - Histological findings (4)
A
Rupture of follicles
Haemorrhage
Scarring
Calcification
9
Q
Diffuse Goitre: Clinical Presentation
A
Entire thyroid gland swells and is smooth to touch
10
Q
Diffuse Goitre: Clinical Presentation - Mass effects (2)
A
Compression of the trachea - exertional dyspnoea, stridor and wheezing
11
Q
Diffuse Goitre: Clinical Presentation - In children
A
Cretinism due to dyshormonogenesis
12
Q
Diffuse Goitre: Investigations - Thyroid Function Tests
A
Normal T3 and T4
High TSH
13
Q
Diffuse Goitre: Management -
A
Treat underlying cause
14
Q
Multi-nodular Goitre: Pathophysiology
A
Recurrent hyperplasia and involution in response to external stimuli
15
Q
Multi-nodular Goitre: Associated mutations
A
Mutations of the TSH signalling pathway
16
Q
Multi-nodular Goitre: Clinical presentation
A
Irregular enlarged thyroid due to nodule formation that is bumpy on palpation
17
Q
Multi-nodular Goitre: Investigations
A
TFT
US scan - demonstrates whether cystic or solid
FNA
18
Q
Multi-nodular Goitre: Management - If toxic
A
Anti-thyroid drugs
19
Q
Multi-nodular Goitre: Management - If significant thyroid problems
A
Radioactive Iodine
20
Q
Multi-nodular Goitre: Management - If structural problem or significant retrosternal extension
A
Surgery
21
Q
Hyperparathyroidism
A
Overactivity of the parathyroid glands with high levels of parathyroid hormone
22
Q
Hyperparathyroidism: Primary Hyperparathyroidism
A
Uncontrolled parathyroid hormone produced directly from the tumour of the parathyroid glands
CAUSE - TUMOUR
23
Q
Hyperparathyroidism: Management
A
Thyroidectomy
24
Q
Hyperparathyroidism: Impact on calcium
A
Increased
25
Hyperparathyroidism: Secondary Hyperparathyroidism Pathophysiology
Insufficient vitamin D or chronic renal failure leading to low absorption of calcium from the intestines, kidneys and bones
CAUSE - LOW VITAMIN D OR CKD
26
Hyperparathyroidism: Impact on calcium
Hypocalcaemia
27
Hyperparathyroidism: Tertiary Hyperparathyroidism
Secondary hyperparathyroidism continues for a long time leading to hyperplasia of glands
CAUSE - HYPERPLASIA
28
Hyperparathyroidism: TFT for Primary Hyperparathyroidism
High PTH
High Calcium
29
Hyperparathyroidism: TFT for Secondary Hyperthyroidism
High PTH
Low or Normal Calcium
30
Hyperparathyroidism: TFT for Tertiary Hyperparathyroidism
High PTH
High Calcium
31
Hyperparathyroidism: Clinical presentation of primary hyperparathyroidism
Fatigue
Depression
Bone pain
Myalgia
Nausea
Thirst
Polyuria
Renal stones
Osteoporosis
32
Hyperparathyroidism: Pathophysiology - Function of PTH on Osteoclasts
Activates them to increase bone reabsorption and releases calcium
33
Hyperparathyroidism: Pathophysiology - Function of PTH on Renal tubules
Increased reabsorption of calcium by renal tubules
34
Hyperparathyroidism: Pathophysiology - Function of PTH on Phosphate
Increased urinary excretion of Phosphate
35
Hyperparathyroidism: Pathophysiology - Function of PTH on Vitamin D
Increased synthesis of active forms of Vitamin D
36
Hyperparathyroidism: Pathophysiology - How PTH regulated?
Increased serum calcium inhibits PTH secretion
37
Hyperparathyroidism: Pathophysiology - Fibrosa Cystica
Unchecked hyperparathyroidism results in the overproduction of PTH with continued osteoclasis - results in osteoporosis, brown tumours and osteitis
38
Hyperparathyroidism: Pathophysiology - Osteoclasis and Clinical Presentation (3)
Decreased bone mass - causes fractures, deformity and degenerative joint disease
39
Hyperparathyroidism: Pathophysiology - Osteoporosis location (3)
Phalanges
Vertebrae
Femur
40
Hyperparathyroidism: Pathophysiology - Osteoporosis where are the changes evident?
Cortical bone and medullary cancellous bone
41
Hyperparathyroidism: Pathophysiology - Osteoporosis what is present in the marrow spaces?
Fibrovascular tissue
42
Hyperparathyroidism: Pathophysiology - What are Brown Tumours?
Mass of reactive tissue
43
Hyperparathyroidism: Pathophysiology - Brown Tumours have what cells present?
Giant cells
44
Hyperparathyroidism: Pathophysiology - Brown Tumours have associated what?
Haemorrhages
45
Hyperparathyroidism: Pathophysiology - Brown Tumours Haemorrhages elicit what response? (20
Macrophage reactions
Processes of organisation and repair
46
Hyperparathyroidism: Pathophysiology - Brown Tumours present as what on X-ray?
Lytic lesion
47
Hyperparathyroidism: Primary Hyperparathyroidism Management
Surgical removal of the tumour
48
Hyperparathyroidism: Secondary Hyperparathyroidism Management
Correct Vitamin D deficiency or perform a renal transplant to treat renal failure
49
Hyperparathyroidism: Tertiary Hyperparathyroidism Management
Surgical removal of part of the parathyroid tissue to return PTH to normal
50
Hypercalcaemia
High levels of calcium within the blood
51
Hypercalcaemia: Aetiologies (6)
Excessive PTH secretion
Malignant disease
Genetic syndromes
Drugs
Granulomatous disease
High turnover states
52
Hypercalcaemia: Aetiologies - Causes of excessive PTH secretion (2)
Primary hyperparathyroidism - due to a single adenoma or diffuse hyperplasia of the parathyroid glands
Tertiary hyperparathyroidism
53
Hypercalcaemia: Aetiologies - Malignant Disease (3)
Metastatic bone destruction
PTH from solid tumours
Osteoclast activating-factors produced by tumours
54
Hypercalcaemia: Aetiologies - Genetic Syndromes (3)
MEN1 and 2
Familial isolated hyperparathyroidism
Familial Hypocalciuric Hypercalcaemia
55
Hypercalcaemia: Aetiologies - MEN1 and 2 presentation
Most will develop a parathyroid adenoma with hypercalcaemia at a young age
56
Hypercalcaemia: Aetiologies - Familial hypocalciuric hypercalcaemia Pathophysiology
Autosomal dominant deactivating mutation in the calcium sensing receptor resulting in decreased sensitivity of the receptor to the calcium
57
Hypercalcaemia: Aetiologies - Drug Examples (2)
Vitamin D
Thiazides
58
Hypercalcaemia: Aetiologies - Granulomatous disease (2)
Sarcoidosis
Tuberculosis
59
Hypercalcaemia: Clinical Presentation - Main 4 Symptoms (4)
Gallstones
Bone pain
Abdominal pain
Psychiatric Disturbances
STONE BONES GROANS AND PSYCHIC MOANS
60
Hypercalcaemia: Clinical Presentation - Acute (4)
Thirst
Dehydration
Confusion
Polyuria
61
Hypercalcaemia: Chronic Clinical Presentation - Musculoskeletal Symptoms (3)
Myopathy
Fractures
Osteopenia
62
Hypercalcaemia: Chronic Clinical Presentation - Cardiovascular
Hypertension
63
Hypercalcaemia: Chronic Clinical Presentation - Gastrointestinal (3)
Pancreatitis
Duodenal ulcers
Renal calculi
64
Hypercalcaemia: Diagnosis - Biochemistry (3)
Raised calcium
Serum PTH - elevated PTH
Serum Alkaline Phosphatase - raised with hypercalcaemia in malignancy
65
Hypercalcaemia: Diagnosis - Imaging required for malignancy (3)
X-ray
MRI
Isotope Bone Scan
66
Hypercalcaemia: Diagnosis - Familial Hypocalciuric Hypercalcaemia (2)
Bloods - increased calcium + Urine calcium excretion + PTH elevated
Genetic screening
67
Hypercalcaemia: Management of Acute Severe Hypercalcaemia - Fluids
Rehydrate with 0.9% saline 4-6 L in 24 hours
68
Hypercalcaemia: Management of Acute Severe Hypercalcaemia - Consider what medication once rehydrated?
Loop diuretics
69
Hypercalcaemia: Management of Acute Severe Hypercalcaemia - Avoid what medications?
Thiazides
70
Hypercalcaemia: Management of Acute Severe Hypercalcaemia - What drug is given to reduce Calcium?
Bisphosphonates - reduces Ca2+ over 2-3 days
71
Hypercalcaemia: Management of Acute Severe Hypercalcaemia - What drug is used if sarcoidosis is present?
Prednisolone 40-60 mg/day
72
Hypercalcaemia: Management of Primary Hyperparathyroidism - Indications for Surgery (4)
End organ damage
Calcium >2.85 mmol/L
Under 50
Reduced eGFR (<60 mL/min)
73
Hypercalcaemia: Management of Primary Hyperparathyroidism - Medication
Cinacalcet
74
Hypercalcaemia: Management of Primary Hyperparathyroidism - Cinacalcet Mode of Action
Calcium mimetic to reduce PTH
75
Hypocalcaemia: (4)
Congenital Absence - DiGeorge Syndrome
Destruction - Surgery, Radiotherapy and Malignancy
Autoimmune Disorders
Hypomagnesaemia
76
Hypocalcaemia: Clinical Presentation - Musculoskeletal symptoms (2)
Muscle weakness
Muscle cramps and tetany
77
Hypocalcaemia: Clinical Presentation - Nervous system symptoms
Paraesthesia - fingers, toes and perioral
78
Hypocalcaemia: Clinical Presentation - Respiratory
Bronchospasma or Laryngospasm
79
Hypocalcaemia: Signs - ECG
QT elongation
80
Hypocalcaemia: Signs - Chovsteks Sign
Tapping over the facial nerve causes twitch of the ipsilateral muscles
81
Hypocalcaemia: Signs - Trosseau Sign
Inflation of the sphygmomanometer cuff above systolic pressure for 3 minutes induces tetanic spasm of the fingers and wrist
82
Hypocalcaemia: Acute Management - Emergency
Infusion of IV Calcium Gluconate (10ml 10% over 10 minutes) in 50ml of saline or dextrose
Calcium infusion - 10ml 10% in 100ml infusate at 50ml per hour
83
Hypocalcaemia: Chronic Management (2)
Calcium supplement - 1-2g per day
Vitamin D supplement - 1 alpha-calcidol or depot injection of Cholecalciferol
84
Hypomagnesaemia
Low magnesium levels in the blood serum
85
Hypomagnesaemia: Aetiologies (4)
Alcohol
GI illness with diarrhoea
Pancreatitis
Malabsorption
86
Hypomagnesaemia: Examples of causative drugs (2)
Thiazide
Proton Pump Inhibitors
87
Hypomagnesaemia: Symptoms (4)
Anorexia
Nausea and vomiting
Muscle weakness
Fits
88
Hypomagnesaemia: Signs (3)
Cardiac Arrhythmias
Chovestek Sign
Trousseau Sign
89
Hypomagnesaemia: Diagnosis (2)
Low serum magnesium
Measure K+ and Ca2+
90
Hypomagnesaemia: Management
Magnesium and Calcium supplementation
91
Hypomagnesaemia: Main Complication
Secondary hypocalcaemia
92
Hypomagnesaemia: Complications - Pathophysiology of Secondary Hypocalcaemia
Calcium is released from cells is dependent - therefore in magnesium deficiency calcium is high
93
Hypomagnesaemia: Complications - Secondary hypocalcaemia has what impact on PTH?
Inhibited
94
Pseudohypoparathyroidism
Genetic defect associated with resistance to Parathyroid Hormone
95
Pseudohypoparathyroidism: Pathophysiology
Genetic mutation causing dysfunction of the Gs alpha subunit - GNAS-1 gene
96
Pseudohypoparathyroidism: Pathophysiology
End organ resistance to PTH due to mutation of the Gs alpha-protein that is coupled to the PTH receptor
97
Pseudohypoparathyroidism: Clinical Presentation (5)
McCune Albright - Bone abnormalities
Obesity
Subcutaneous calcification
Learning disability
Brachadactyly - shortened 4th metacarpal
98
Pseudohypoparathyroidism: Investigations (2)
Low Calcium
High PTH - due to resistance
99
Pseudohypoparathyroidism: Pseudo-pseudohypothyroidism
Phenotypic defects of pseudohypoparathyroidism without any abnormalities in calcium metabolism
100
Cushing's Syndrome
Excess cortisol secretion
101
Cushing's Disease
Benign Pituitary Adenoma that secretes excess ACTH
102
Cushing's Disease: More common in what sex?
Females
103
Cushing's Disease: Age
20-40 year olds
104
Cushing's Syndrome: Aetiologies (2)
Therapeutic administration of synthetic steroids
Cushing's Disease
105
Cushing's Syndrome: Aetiologies - ACTH dependent (3)
Pituitary adenoma
Ectopic ACTH
Ectopic CRH
106
Cushing's Syndrome: Aetiologies - ACTH independent (4)
Exogenous steroids
Adrenal adenoma or carcinoma
Adrenal cortical nodular hyperplasia
False positive - severe depression and alcoholism
107
Cushing's Syndrome: Pathophysiology - ACTH independent
Over-production of cortisol by the adrenal gland due to neoplasia or nodular hyperplasia
108
Cushing's Syndrome: Pathophysiology - ACTH-dependent adrenal enlargement is ...
Diffuse
109
Cushing's Syndrome: Pathophysiology - Cushing's Disease
Pituitary secretes increased ACTH to increase cortisol production by the adrenal gland
110
Cushing's Syndrome: Pathophysiology - ACTH-dependent Ectopic ACTH
Carcinoma secretes ACTH e.g. SCLC to increase cortisol production by the adrenal gland
111
Cushing's Syndrome: Pathophysiology - ACTH-dependent Ectopic CRH
Carcinoma secretes CRH e.g. Medullary Thyroid Carcinoma to increase ACTH production by pituitary to increase cortisol by the adrenal gland
112
Cushing's Syndrome: Consequences of Increased Cortisol Levels - Proteins
Reduction
113
Cushing's Syndrome: Consequences of Increased Cortisol Levels - Proteins
Reduction
114
Cushing's Syndrome: Consequences of Increased Cortisol Levels - Carbohydrates and Lipid
Metabolism changed
115
Cushing's Syndrome: Consequences of Increased Cortisol Levels - Mineralocorticoid
Increased
116
Cushing's Syndrome: Consequences of Increased Cortisol Levels - Androgens
Increased
117
Cushing's Syndrome: Pathophysiology - Protein loss has what impact? (3)
Myopathy - muscular wasting
Osteoporosis - causes fractures
Thin skin - causes striae and bruising
118
Cushing's Syndrome: Pathophysiology - Altered Carbohydrate and Lipid Metabolism has what consequence?
Diabetes Mellitus and Obesity
119
Cushing's Syndrome: Pathophysiology - Excess mineralocorticoids consequence? (2)
Hypertension
Oedema
120
Cushing's Syndrome: Pathophysiology - Excess Androgen results in (3)
Virulism - females with male characteristics
Hirsuitism - male hair pattern on women
Acne
Oligo- or Amenorrhoea
121
Cushing's Syndrome: Clinical Presentation - Facial features (2)
Plethora - redness of the face
Moon face
122
Cushing's Syndrome: Clinical Presentation - Cardiovascular (2)
Hypertension
Oedema
123
Cushing's Syndrome: Clinical Presentation - Metabolic (4)
Central obesity
Glycosuria
Diabetes mellitus
124
Cushing's Syndrome: Clinical Presentation - Back
Buffalo hump
125
Cushing's Syndrome: Clinical Presentation - Skin (6)
Bruising
Striae - purple or red
Pigmentation
Thin skin
Hirsutism
Acne
126
Cushing's Syndrome: Clinical Presentation - Musculoskeletal (2)
Proximal myopathy - wasting
Osteoporosis - fractures
127
Cushing's Syndrome: Clinical Presentation - Reproductive
Oligo- or Amenorrhoea
128
Cushing's Syndrome: Clinical Presentation - How is Cushing's distinguished from Obesity? (5)
Thin Skin
Proximal myopathy
Frontal balding in women
Conjunctival oedema
Osteoporosis
129
Cushing's Syndrome: Diagnosis - Main test
Dexamethasone suppression test
130
Cushing's Syndrome: Diagnosis - Dexamethaone Suppression Test Description
1mg overnight dexamethasone - if the administration fails to suppress the cortisol Cushing's Syndrome is present
131
Cushing's Syndrome: Diagnosis - Dexamethasone Suppression Test Normal Result
Cortisol <50 nmol/L
132
Cushing's Syndrome: Diagnosis - Dexamethasone Suppression Test Abnormal Result
Cortisol >130 nmol/L
133
Cushing's Syndrome: Diagnosis - 24 hour urine cortisol test Normal Results (2)
Total Cortisol <250 nmol/L
Cortisol:Creatinine Ration <25 nmol/L
134
Cushing's Syndrome: Diagnosis - Diurinal Cortisol Variation Procedure
Serum/Saliva/Urine Collection - if loss of diurnal variation at 8am and Midnight is present suspect Cushing's
135
Cushing's Syndrome: Diagnosis - If ACTH what is the likely origin?
Adrenal gland
136
Cushing's Syndrome: Diagnosis - If ACTH is raised what is required next?
Distinguish Cushing's Disease and Ectopic ACTH - CRF test with elevated ACTH and Cortisol indicates pituitary source
137
Cushing's Syndrome: Management - Pituitary Source Options (2)
Hypopysectomy - transphenoidal route with external radiotherapy
Bilateral Adrenalectomy
138
Cushing's Syndrome: Management - Adrenal source
Adrenalectomy
139
Cushing's Syndrome: Management - Pharmacological Options (3)
Metyrapone
Ketoconazole
Pasiretoide LAR
140
Cushing's Syndrome: Management - Side effect of Ketoconazole
Hepatotoxic
141
Cushing's Syndrome: Management - Pasireotide LAR dose
10-20 mg monthly
142
Adrenal Adenoma
Benign neoplasma emerging from the cells of the adrenal cortex
143
Adrenal Adenoma: Appearance
Well-circumscribed encapsulated lesions that are small with bright yellow lipids buried within the gland
144
Adrenal Adenoma: Histological presence
Well-differentiated with small nuclei and made of cells resembling adrenocortical cells
145
Adrenal Adenoma: Clinical presentation if hyperfunctioning gland
Manifestations of Cushing's or Conns Syndrome
146
Adrenal Adenoma: When is surgical excision required?
Functioning lesion
Large lesion - >3-5 cm
147
Adrenocortical Carcinoma
Malignancy of the adrenal cortex
148
Adrenocortical Carcinoma: In young patients this is associated with what?
Li-Fraumeni Syndrome
149
Adrenocortical Carcinoma: Histology - Size
Large - often >20cm
150
Adrenocortical Carcinoma: Histology - Mitosis
Frequent atypical mitoses present
151
Adrenocortical Carcinoma: Histology - There is a lack of what?
Clear cells
152
Adrenocortical Carcinoma: Histology - What are the two types of invasion?
Capsular or Vascular
153
Adrenocortical Carcinoma: Histology - What features may be present? (2)
Haemorrhage
Necrosis
154
Adrenocortical Carcinoma: Spread - Local invasion of what? (2)
Retroperitoneum
Kidney
155
Adrenocortical Carcinoma: Spread - Metastasis is often by what to where?
Haemogenous - Liver, Lung and Bone
156
Adrenocortical Carcinoma: Spread - Involves what? (2)
Peritoneum
Pleura
157
Adrenocortical Carcinoma: Clinical Presentation -(2)
Abdominal mass effects
Necrosis can cause a fever
158
Adrenocortical Carcinoma: Management
Resection with adjuvant therapy if no metastasis present
159
Primary Hyperaldostronism
Autonomous production of aldosterone independent of its regulators - Angiotensin II and Potassium
160
Primary Hyperaldostronism: Aetiologies (4)
Conn's Syndrome
Bilateral Adrenal Hyperplasia
Genetic mutations
Unilateral hyperplasia
161
Conn's Syndrome
Adrenal Adenoma
162
Primary Hyperaldostronism: Conn's Syndrome - Genetic Pathophysiology
KCNJ5 channel mutation - leads to loss of ion selectivity for Na+ causing depolarisation ad therefore increased aldosterone production
163
Primary Hyperaldostronism: Main aetiology
Bilateral Adrenal Hyperplasia
164
Primary Hyperaldostronism: Examples of Genetic Mutations (5)
CLC-2
GIRK4
ATPase
Beta Catenin
Cav3.2/1.3 Channels
165
Primary Hyperaldostronism: Pathophysiology - Aldosterone impact on cardiac collagen
Increased
166
Primary Hyperaldostronism: Pathophysiology - Aldosterone impact on Sodium
Increases retention
167
Primary Hyperaldostronism: Pathophysiology - Aldosterone impact on Sympathetic Outflow
Increased
168
Primary Hyperaldostronism: Pathophysiology - Aldosterone increases the synthesis of what? (2)
Cytokines
ROS
169
Primary Hyperaldostronism: Pathophysiology - Aldosterone impact on endothelial function
Increased pressor response
170
Primary Hyperaldostronism: Clinical Presentation (3)
Hypertension
Hypokalaemia
Alkalosis
171
Primary Hyperaldostronism: Diagnosis - Initially required to confirm what?
Aldosterone excess
172
Primary Hyperaldostronism: Diagnosis - How is aldosterone excess confirmed?
Measure plasma aldosterone and renin - determine ratio
173
Primary Hyperaldostronism: Diagnosis - Raises Aldosterone:Renin ration requires further investigation with what?
Saline suppression test
174
Primary Hyperaldosteronism: Diagnosis - If saline suppression test fails to suppress ratio by >50% with 2 litres of saline shows what?
Confirms Primary Aldosteronism
175
Primary Hyperaldostronism: Diagnosis - How to confirm subtype?
Adrenal CT for adenoma
Or vein sampling
176
Primary Hyperaldostronism: Management - Adrenal Adenoma confirmed source with vein sampling
Unilateral Laparoscopic Adrenalectomy
177
Primary Hyperaldostronism: Management - Unilateral laparoscopic Adrenalectomy cures what? (2)
Hypokalaemia
Hypertension
178
Primary Hyperaldostronism: Management - Bilateral Adrenal Hyperplasia
MR Antagonists - Spironolactone or Eplerenone
179
Secondary Hyperaldosteronism
Increased adrenal production of aldosterone in response to extra adrenal stimuli
180
Secondary Hyperaldosteronism: Basic pathophysiology
Reduced renal flow leads to excess renin and hence angiotensin II
181
Secondary Hyperaldosteronism: Causes of reduced renal blood flow? (3)
Obstructive renal artery disease e.g. atheroma or stenosis
Renal vasoconstriction
Oedematous disorders e.g. heart failure or cirrhosis with ascites
182
Secondary Hyperaldosteronism: Most common aetiology
Renal artery stenosis - due to atheroma
183
Secondary Hyperaldosteronism: Can be caused by what in females?
Fibromuscular dysplasia
184
Secondary Hyperaldosteronism: Clinical presentation
Hypertension
185
Secondary Hyperaldosteronism: Diagnosis - Aldosterone:Renin Ratio
High aldosterone
High renin
186
Secondary Hyperaldosteronism: Diagnosis - How to detect Renal Artery Stenosis?
Doppler US
CT Angiogram
MRA
187
Secondary Hyperaldosteronism: Management
Aldosterone Antagonists e.g. Spironolactone
188
Secondary Hyperaldosteronism: Management of Renal Artery Stenosis
Percutaneous Renal Artery Angioplasty via the femoral artery
189
Addisons Disease
Primary adrenal insufficiency with decreased production of adrenocortical hormones - glucocorticoids, mineralocorticoids and adrenal androgens
190
Adrenocortical Insufficiency: Acute Aetiologies - Associated with drugs
Rapid withdrawal of steroid treatment
191
Adrenocortical Insufficiency: Acute Aetiologies - Crisis in what patients?
Patients with chronic adrenocortical insufficiency e.g. stress or infection
192
Adrenocortical Insufficiency: Acute Aetiologies - Involving the adrenal glands (4)
Adrenal haemorrhage
Adrenal tuberculosis
Adrenal malignancy
Congenital Adrenal Hyperplasia
193
Adrenocortical Insufficiency: Acute Aetiologies - Causes of massive adrenal haemorrhage (4)
Newborns
Anti-coagulant treatment
DIC - Disseminated Intravascular Coagulation
Septicaemic infection
194
Adrenocortical Insufficiency: Most common cause of Primary Adrenal Insufficiency?
Autoimmune adrenalitis
195
Adrenocortical Insufficiency: Acute Aetiologies - Septicaemic Infection may occur in what syndrome?
Waterhouse-Friderichsen Syndrome
196
Adrenocortical Insufficiency: Chronic Aetiologies - When does Addison's Disease manifest?
Once >90% of the gland is destroyed
197
Adrenocortical Insufficiency: Addisons Disease - Aetiologies (3)
Autoimmune adrenalitis
Infections - TB, Histoplasma or HIV
Metastatic Malignancy - from lung or breast
198
Adrenocortical Insufficiency: Addisons Disease - Decreases Mineralocorticosteroids have what impacts? (4)
Hyperkalaemia
Hyponatraemia
Volume depletion
Hypotension
199
Adrenocortical Insufficiency: Addisons Disease - Decreased glucocorticoids have what impact?
Hypoglycaemia
200
Adrenocortical Insufficiency: Addisons Disease - In a crisis what is the presentation? (4)
Vomiting
Hypotension
Shock
Abdominal pain
201
Adrenocortical Insufficiency: Addisons Disease - Why is there excess pigmentation?
Excess ACTH due to low adrenocorticoids gets degraded to release MSH
202
Adrenocortical Insufficiency: Where do black spots present?
Buccal mucosa
Dark palmar creases
Dark finger spaces
203
Adrenocortical Insufficiency: Diagnosis - Biochemistry Results (3)
Hyponatraemia
Hyperkalaemia
Hypoglycaemia
204
Adrenocortical Insufficiency: Diagnosis - Hormone markers
Increased renin
Decreased aldosterone
205
Adrenocortical Insufficiency: Diagnosis - What test should be conducted?
Short Synacthen Test
206
Adrenocortical Insufficiency: Diagnosis - Short Synacthen Test process and results
Measure plasma cortisol before and 30 minutes after injection of synthetic ACTH -
Normal Baseline - >250 nmol/L
Normal Post-ACTH - >550 nmol/L
207
Adrenocortical Insufficiency: Management - First line treatment
Hydrocortisone
208
Adrenocortical Insufficiency: Management - Dose of Hydrocortisone
15-30 mg daily in divided doses to mimic diurnal rhythm
209
Adrenocortical Insufficiency: Management - If in an Addison Crisis what is done?
Give IV Hydrocortisone
210
Adrenocortical Insufficiency: Management - Second line
Fludrocortisone - aldosterone replacement
211
Adrenocortical Insufficiency: Management - Must monitor what on Fludrocortisone?
Blood Pressure
Potassium
212
Adrenocortical Insufficiency: Management of Adrenal Crisis - First stage
100mg IV Hydrocortisone then 200mg over 24 hours by continuous IV infusion in glucose or 50mg 6 hourly
213
Adrenocortical Insufficiency: Management of Adrenal Crisis - Second stage for rehydration
NaCl 0.9% - 3-4 L over 24 hours
214
Adrenocortical Insufficiency: Management of Adrenal Crisis - Second stage for resuscitation
500ml fluid bolus of NaCl 0.9% over 15 minutes then replace electrolyte deficits
215
Adrenocortical Insufficiency: Management - Sick Day Rules for moderate illness or surgery under local anaesthetic
Double the glucocorticoid use
216
Adrenocortical Insufficiency: Management - Sick Day Rules for Severe Illness, Colonoscopy or Acute trauma
Hydrocortisone 100mg IV at onset followed by continuous infusion of hydrocortisone 200mg over 24 hours OR Intramuscular 100mg of Hydrocortisone followed by 50mg every 6 hours
217
Adrenocortical Insufficiency: Secondary Adrenal Insufficiency
Lack of production of ACTH by the pituitary gland
218
Adrenocortical Insufficiency: Tertiary Adrenal Insufficiency
Lack of CRH secretion by the hypothalamus
219
Adrenocortical Insufficiency: Difference in clinical presentation for Secondary or Tertiary insufficiency (2)
Skin is pale as no increased ACTH
No hypertension - as aldosterone production is intact
220
Neuroblastoma
Malignant neuroendocrine tumour of the sympathetic nervous system that originates from neural crest cells
221
Neuroblastoma: Usually diagnosed when?
18 months of age - 40% in infancy
222
Neuroblastoma: 40% of cases arise where?
Adrenal medulla
223
Neuroblastoma: 60% of cases arise where?
Sympathetic chain
224
Neuroblastoma: Composed of what?
Primitive appearing cells - may show maturation and differentiation towards ganglion cells
225
Neuroblastoma: What predicts prognosis?
Amplification of N-myc and expression of telomerase
226
Neuroblastoma: Presents (early/late)
Late - due to mass effects of tumour or metastasis being main cause of symptoms
227
Neuroblastoma: Clinical presentation (5)
Loss of appetite
Vomiting
Weight loss
Fatigue
Bone pain
228
Neuroblastoma: Management for high risk patients
Multi-agent chemotherapy, Surgery and Radiotherapy
229
Phaeochromocytoma
Catecholeamine-secreting tumour that is typically derived from chromaffin cells of the adrenal medulla
230
Phaeochromocytoma: Where are paragangliomas located?
Extra-adrenal
231
Phaeochromocytoma: Extra-adrenal paragangliomas are located where? (5)
Head
Neck
Thorax
Pelvis
Bladder
232
Phaeochromocytoma: Rule of 10s
10% extra-adrenal
10% bilateral
10% are cases. ofmetastasis
10% are NOT associated with hypertension
233
Phaeochromocytoma: Associated genetic mutations (5)
Neurofibrooma Type I
MEN2 - associated with RET
VHL
Succinate Dehydrogenase enzymes
Tuberous Sclerosis
234
Phaeochromocytoma: More often malignant if associated with what?
Germline mutation of. theBeta unit of Succinade Dehydroxynate
235
Phaeochromocytoma: Secrete what?
Catecholeamines
236
Phaeochromocytoma: Rare cause of what?
Secondary hypertension
237
Phaeochromocytoma: Commonly metastatises to where? (4)
Skeleton - most common
Regional lymph nodes
Liver
Lung
238
Phaeochromocytoma: Onset is normally what?
Gradual
239
Phaeochromocytoma: Histology - Tumour cells form a what?
Zellballen
240
Phaeochromocytoma: Histology - Colour progression
1. Yellow
2. Red or Brown
3. Haemorrhagic or Necrotic
241
Phaeochromocytoma: Histology - K2Cr2O7 has what impact on the tumour?
Turns tumour dark brown due to oxidation of catecholeamines
242
Phaeochromocytoma: Hypertension occurs when?
On stress, exercise or palpation of the tumour
243
Phaeochromocytoma: Clinical Presentation - Classic Triad
Hypertension
Headache
Sweating
244
Phaeochromocytoma: Clinical Presentation - Paraganglioma of the bladder is associated with what?
Micturition
245
Phaeochromocytoma: Clinical Presentation - Signs of Complications (5)
Left Ventricular Failure
Myocardial necrosis
Stroke
Shock
Paralytic ileus of the bowel
246
Phaeochromocytoma: Clinical Presentation - Cardiovascular symptoms
Tachycardia or Paradoxysmal Bradycardia
247
Phaeochromocytoma: Diagnosis - Main test
2 x 24 hour catecholamine or metanephrite tests - take these at time of symptoms
248
Phaeochromocytoma: Diagnosis - Glucose
Elevates
249
Phaeochromocytoma: Diagnosis - Potassium
Hyperkalaemia - potential
250
Phaeochromocytoma: Diagnosis - Haematocrit and Hb
Elevated
251
Phaeochromocytoma: Diagnosis - Calcium
Mild Hypercalcaemia
252
Phaeochromocytoma: Management - Pre-operative management
Full alpha blockade (phenocybenzamine) followed by beta blockade (propanolol) when stable
253
Phaeochromocytoma: Management - Definitive option
Laparoscopic Surgery with Chemotherapy if malignant
254
Congenital Adrenal Hyperplasia
Inherited group of disorders characterised by a deficiency in the enzymes necessary for cortisol synthesis
255
Congenital Adrenal Hyperplasia: Pathophysiology - Main aetiology
Autosomal Recessive 21-alpha Hydroxylase Deficiency
256
Congenital Adrenal Hyperplasia: Pathophysiology - Deficiency of 21-alpha Hydroxylase Deficiency prevents what?
Formation of Deoxycorticosterone and Deoxycortisol to increase levels of precursors
257
Congenital Adrenal Hyperplasia: Pathophysiology - Deficiency of P-450 11 Beta Enzyme prevents formation of what?
Cortisol
258
Congenital Adrenal Hyperplasia: Pathophysiology - Deficiency of P-450 C-17 prevents formation of what? (3)
Cortisol
DHEA
Androstenedione
259
Congenital Adrenal Hyperplasia: Pathophysiology - Classic type is diagnosed when?
In infancy
260
Congenital Adrenal Hyperplasia: Pathophysiology - Classic type typically diagnosed by what?
Virilisation and salt wasting
261
Congenital Adrenal Hyperplasia: Pathophysiology - Non-Classic type typically presents when?
In adolescence or adult hood
262
Congenital Adrenal Hyperplasia: Pathophysiology - Non-Classic type typically presents how? (3)
Hirsutism
Menstrual disturbance
Infertility - due to anovulation
263
Congenital Adrenal Hyperplasia: Pathophysiology - Classic Type has the biochemical pattern of what?
Addisons Disease
264
Congenital Adrenal Hyperplasia: Pathophysiology - Increased volume of precursors causes what to occur?
Diversion to androgen pathway to increase testosterone and dihydrotestosterone
265
Congenital Adrenal Hyperplasia: Diagnostic Test
Basal or Stimulated 17-OH Progesterone
266
Congenital Adrenal Hyperplasia: Management - Children
Replacement of glucocorticoids and mineralocorticoids
Surgical correction
267
Congenital Adrenal Hyperplasia: Management - Adults
Glucocorticoid replacement
Control androgen excess
Restore fertility
268
Congenital Adrenal Hyperplasia: Management - In adults must avoid what?
Steroid over-replacement
269
Pituitary Adenoma
Benign tumour derived from the cells of the anterior pituitary
270
Pituitary Adenoma: Can be associated with what disease?
MEN1 Werner Syndrome
271
Pituitary Adenoma: These are derived from what?
Cells of the anterior pituitary gland
272
Pituitary Adenoma: What is classification dependent on?
Hormone produced
273
Pituitary Adenoma: What is the most common functional tumour?
Prolactinoma
274
Pituitary Adenoma: Prolactinoma Clinical Presentation
Infertility
Lack of Libido
Amenorrhoea
275
Pituitary Adenoma: Second most common functional tumour
Growth Hormone Secreting Adenoma
276
Pituitary Adenoma: Growth Hormone Secreting Adenoma Pathophysiological present
Increase in Insulin-like Growth Factors stimulates the growth of bone, cartilage and connective tissue
277
Pituitary Adenoma: Growth Hormone Secreting Adenoma results in what? (2)
Gigantism
Acromegaly
278
Pituitary Adenoma: ACTH-secreting Adenoma - Usually present. aswhat?
Micro-adenomas
279
Pituitary Adenoma: ACTH-secreting Adenoma - Clinical presentation
Cushing's Disease - causes bilateral adrenocortical hyperplasia
280
Pituitary Adenoma: Histology - Size of micro-adenomas
<1cm
281
Pituitary Adenoma: Histology - Size of macro-adenomas
>1cm
282
Pituitary Adenoma: Histology - Large adenomas have what impact?
Impact the visual field
283
Pituitary Adenoma: Histology - Infarction caused by large adenomas can lead to what?
Panhypopituitarism
284
Pituitary Adenoma: Histology - Which subsets behave aggressivley?
Those with mitotic figures and p53 mutations
285
Pituitary Adenoma: Clinical Presentation - Enlargement of the Pituitary has what impact on the cranial nerves?
Compresses the optic chaisma on cranial nerves 3, 4 and 6
286
Pituitary Adenoma: Histology - Compression of the optic chiasma has what impact?
Bi-temporal Hemianopia
287
Pituitary Adenoma: Histology - Compression on the residual pituitary gland can result in what? (5)
Hypoadrenalism
Hypothyroidism
Hypogonadism
Diabetes Insipidus
GH deficiency
288
Pituitary Adenoma: Management Options (2)
Transphenoidal Surgery
Replace the hormones
289
Craniopharyngioma
Benign tumour arising in the sellar or suprasella region
290
Craniopharyngioma: Derived from what?
Rathke's Pouch
291
Craniopharyngioma: Bimodal incidence pattern
5-15 years old
60-70 years old
292
Craniopharyngioma: Majority are located where?
Suprasellar region
293
Craniopharyngioma: Pattern of growth
Slow growth - may be cystic or calcified
294
Craniopharyngioma: Clinical Presentation (2)
Headaches
Visual disturbances
295
Craniopharyngioma: May cause what in children?
Growth retardation
296
Craniopharyngioma: Investigation
CT or MRI of the head
297
Craniopharyngioma: Prognosis
Good - especially if <5cm
298
Craniopharyngioma: Management
Radiotherapy
299
Craniopharyngioma: Complication of radiotherapy
Small Cell Carcinoma
300
Hypopituitarism
Inadequate production of one or more pituitary hormone as a result of damage to the pituitary gland and/or hypothalamus
301
Hypopituitarism: Aetiologies - Potential causative tumours (3)
Pituitary Tumours
Local Brain Tumours - Astrocytoma, Meningioma, Glioma or Clival Chordoma
Secondary Metastatic Lesions - from the lung and breast
302
Hypopituitarism: Aetiologies - Granulomatous Disease (3)
Tuberculosis
Histocytosis
Sarcoidosis
303
Hypopituitarism: Aetiologies - Vascular Disease
Polyarteritis
304
Hypopituitarism: Aetiologies - Trauma (2)
RTA
Skull fractures
305
Hypopituitarism: Aetiologies - Hypothalamic Disease (2)
Syphilis
Meningitis
306
Hypopituitarism: Aetiologies - Autoimmune disease
Sheenan Syndrome Post-pregnancy
307
Hypopituitarism: Aetiologies - Infection
Meningitis
308
Hypopituitarism: Pathophysiology - Becomes symptomatic when?
More than 80% of pituitary cells are damaged
309
Hypopituitarism: Pathophysiology - Consequences on Anterior Pituitary Gland (4)
Growth Hormone - Causes growth failure
TSH - Causes hypothyroidism
LH or FSH - Causes hypogonadism
ACTH - Causes hypoadrenal symptoms
310
Hypopituitarism: Pathophysiology - Consequences on Posterior Pituitary Gland
Diabetes Insipidus
311
Hypopituitarism: Pathophysiology - Panhypopituitarism
Deficiency in all anterior pituitary hormones
312
Hypopituitarism: Aetiologies of Panhypopituitarism (3)
Pituitary tumours
Surgery
Radiotherapy
313
Hypopituitarism: Anterior Hypopituitarism - Clinical Presentation of Secondary Hypothyroidism, Hypoadrenalism and Hypogonadism (2)
Tiredness
General malaise
314
Hypopituitarism: Anterior Hypopituitarism - Clinical Presentation of Hypothyroidism (7)
Weight gain
Slow thought and action
Dry skin
Cold tolerance
Constipation
Bradycardia
Hyperthermia
315
Hypopituitarism: Anterior Hypopituitarism - Clinical Presentation of Hypoadrenalism (3)
Mild hypotension
Hyponatraemia
Cardiovascular collapse
316
Hypopituitarism: Anterior Hypopituitarism - Clinical Presentation of Hypogonadism (5)
Loss of libido
Loss of secondary sexual hair
Amenorrhoea
Erectile dysfunction
Osteoporosis
317
Hypopituitarism: Anterior Hypopituitarism - Clinical Presentation of Hypoprolactinaemia (3)
Galactorrhoea
Hypogonadism
Amenorrhoea
318
Hypopituitarism: Anterior Hypopituitarism - Clinical Presentation of long-standing panhypopituitarism
Pallor with hairlessness
319
Hypopituitarism: Clinical Presentation of Posterior Hypopituitarism (2)
Diabetes Insipidus - Polyuria or Polydipsia
320
Hypopituitarism: Diagnosis - What tests are best for the steroid axis? (2)
Synacthen Test
Insulin Tolerance Test
321
Hypopituitarism: Diagnosis - What should results be in a post-menopausal woman?
High LH and FSH
322
Hypopituitarism: Diagnosis - When is testosterone sampled?
9am fasting sample
323
Hypopituitarism: Diagnosis - Steroid Test for Pituitary
9am ACTH
324
Hypopituitarism: Diagnosis - Steroid Test for Periphery
9am Cortisol
325
Hypopituitarism: Diagnosis - Pituitary test for Thyroid
TSH
326
Hypopituitarism: Diagnosis - Peripheral test for Thyroid
Thyroxine (fT4)
327
Hypopituitarism: Diagnosis - Pituitary test for Sex Hormones
LH and FSH
328
Hypopituitarism: Diagnosis - Peripheral Test for Sex Hormones
Testosterone or Oestradiol
329
Hypopituitarism: Diagnosis - Pituitary Test for Growth Hormone
GH
330
Hypopituitarism: Diagnosis - Peripheral Test for Growth Hormone
Insulin Growth Factor 1
331
Hypopituitarism: Diagnosis - Pituitary Test for Prolactin
Prolactin
332
Hypopituitarism: Diagnosis - Test for Posterior Pituitary Gland
Plasma or Urine Osmolarity
333
Hypopituitarism: Management
Replacement Therapy
334
Hypopituitarism: Management - TSH deficiency with dose
Thyroxine - 100-150 mcg/day
335
Hypopituitarism: Management - ACTH deficiency and dose
Hydrocortisone - 10-25 mg/day split 2-3 times per day
336
Hypopituitarism: Management - Diabetes insipidus
Desmospray Nasal Spray or Desmopressin tablets
337
Hypopituitarism: Management - Growth Hormone Deficiency
Daily Subcutaneous Injection of Growth Hormone
338
Hypopituitarism: Management - Testosterone options and doses (4)
IM Injection of Sustanon - every 3-4 weeks
Testogel or Tostran skin gel
Prolonged IM injection of Nebido - 10-14 weeks
Oral Restandol tablets
339
Hypopituitarism: Management - Female sex steroid deficiency
HRT/Oestrogen/Progesterone Pill
340
Hypopituitarism: Risk of Testosterone Replacement (3)
Polycythaemia - increases risk of stroke and MI
Prostate enlargement - monitor via PR and PSA
Hepatitis for oral tablets
341
Diabetes Insipidus: Familial Aetiology
DIDMOAD Wolfram Syndrome
342
Diabetes Insipidus: DIDMOAD Wolfram Syndrome presentation
Diabetes Inspidus + Diabetes Mellitus + Optic Atrophy + Deafness
343
Diabetes Insipidus: Acquired Aetiologies (5)
Autoimmune
Tumours
Trauma
Infiltration
Infections
344
Diabetes Insipidus: Aetiologies - Tumours (3)
Cranipharyngioma
Hypothalmic tumour
Pituitary tumour
345
Diabetes Insipidus: Aetiologies - Trauma (3)
Road accidents
Skull fracture
External irradiation
346
Diabetes Insipidus: Aetiologies - Infiltration
Sarcoidosis
347
Diabetes Insipidus: Aetiologies - Infections (3)
Tuberculosis
Meningitis
Inflammatory disorders of the hypothalamus and pituitary
348
Diabetes Insipidus: Pathophysiology - Nephrogenic cause
Renal resistance to ADH
349
Diabetes Insipidus: Aetiologies of Nephrogenic DI (2)
Familial - AVPR2 Receptor Mutations
Renal Disease
350
Diabetes Insipidus: Clinical presentation
Polydipsia
Polyuria with dilute urine
351
Diabetes Insipidus: Diagnosis - Main test
Water Deprivation Test
352
Diabetes Insipidus: Diagnosis - Water Deprivation Test Process
Patients stop drinking for 2-3 hours before the first measurement
Check serum and urine osmolarities hourly for 8 hours then 4 hours after giving Desmopressin
353
Diabetes Insipidus: Diagnosis - Water Deprivation Test Normal Urine:Serum Osmolarity
>1.8-2
354
Diabetes Insipidus: Diagnosis - Water Deprivation Test how to determine if cranial or nephrogenic?
If ratio is low but improves after Desmopressin that is cranial
355
Diabetes Insipidus: Management - Options (3)
Desmospray - nasal spray of 10-60 mcg/day
Desmopressin oral tablets - 100-1000 mcg/day
Desmopressin injection - 1-2 mcg IM per day
356
Diabetes Insipidus: Management - When is treatment given?
At night
357
Acromegaly
Growth Hormone stimulates skeletal and soft tissue growth
358
Acromegaly: Name in children
Gigantism - if acquired before epiphyseal fusion
359
Acromegaly: Main aetiology
GH-secreting Pituitary Adenoma
360
Acromegaly: Clinical presentation - Impact on soft tissue (4)
Thickened skin
Large jaw
Sweaty
Large hands
361
Acromegaly: Clinical presentation - Impact on nasopharynx
Thickened - to cause snoring and sleep apnoea
362
Acromegaly: Clinical presentation - Impact on cardiovascular system (2)
Hypertension
Cardiac failure
363
Acromegaly: Clinical presentation - Impact on metabolism
Diabetes Mellitus
364
Acromegaly: Clinical presentation - Impact on colon
Colonic polyps - increased risk of colon cancer
365
Acromegaly: Diagnosis - Gold Standard
Glucose Tolerance Test
366
Acromegaly: Diagnosis - Glucose Tolerance Test Process
75g oral glucose - then GH is checked at 0, 30, 60, 90 and 120 minutes
367
Acromegaly: Diagnosis - Glucose Tolerance Test Suppression normal GH result
Normally suppressed to <0.4 ug/L after glucose
368
Acromegaly: Diagnosis - When is acromegaly indicated in the GTT suppression test?
GH unchanged or a paradoxical rise is present
369
Acromegaly: Management - First Line
Surgery via transphenoidal approach
370
Acromegaly: Management - Pharmacological Options (3)
Sandostatin LAR
Lanreotide
Octreotide
371
Acromegaly: Management - Sandostatin LAR dose
IM 10-30mg per 28 days
372
Acromegaly: Management - Lanreotide Autogel dose
SC 60-120 mg per 28 days
373
Acromegaly: Management - Sandostatin/Lanreotide short-term side effects (3)
Flatulence
Diarrhoea
Abdominal Pain
374
Acromegaly: Management - Sandostatin LAR/Lanreotide long term side effects (2)
Gall stones within 6 months
Biliary colic - due to inhibited contraction of gall bladder
375
Acromegaly: Management - Dopamine agonist example
Cabergoline
376
Acromegaly: Management - Cabergoline dose
Up to 3g weekly
377
Acromegaly: Management - Growth Hormone Antagonist example
Pegvisomant
378
Acromegaly: Management - Pegvisomant Dose
Subcutaneous 10-30 mg per day
379
Acromegaly: Management - Pegvisomant Mechanism of Action
Binds to the growth Hormone receptor to block GH activity to decrease IGF-1 and increase GH
380
Acromegaly: Complications - GH excess can result in what? (3)
Formation of colon polyps and cancer
Hypertension
Cardiac failure
381
Hyperprolactinaemia
Abnormally high levels of prolactin within the blood
382
Hyperprolactinaemia: Aetiologies - Physiological causes (3)
Breast feeding
Pregnancy
Stress
383
Hyperprolactinaemia: Aetiologies - Pharmaceutical causes (3)
Any drug that reduces dopamine:
- Dopamine antagonists e.g. Metoclopramide
- Anti-psychotics e.g. Phenothiazines
- Anti-depressants - TCA, Cocaine, Oestrogens
384
Hyperprolactinaemia: Aetiologies - Pathological causes (4)
Hypothyroidism
Stalk compression - due to pituitary adenomas and masses
Damage to the stalk
Prolactinoma
385
Hyperprolactinaemia: Clinical Presentation - Females present when?
Early
386
Hyperprolactinaemia: Clinical Presentation - Females (5)
Galactorrhoea
Menstrual irregularity
Decreased libido
Ammenorrhoea
Infertility
387
Hyperprolactinaemia: Clinical Presentation - Males present when?
Late
388
Hyperprolactinaemia: Clinical Presentation - Male presentation (4)
Impotence
Visual field abnormalities
Headaches
Anterior pituitary malfunction
389
Hyperprolactinaemia: Diagnosis
Raised serum prolactin
390
Hyperprolactinaemia: Management
Dopamine Agonists - Cabergoline
391
Hyperprolactinaemia: Management - Second Line Management
Transphenoidal surgery or radiotherapy
392
Infertility
Failure to achieve a clinical pregnancy after 12 months or more of regular unprotected sexual intercours in a couple who have never had a child
393
Infertility: Female Infertility - Anovulatory Infertility
Infertility due to lack of ovulation
394
Infertility: Female Infertility - Physiological causes (4)
Before puberty
During pregnancy
Lactation
Menopause
395
Infertility: Female Infertility - Hypothalmic Gynaecological Aetiologies (4)
Anorexia
Excessive exercise
Stress
Kallman's Syndrome
396
Infertility: Female Infertility - Pituitary Gynaecological Aetiologies (3)
Hyperprolactinaemia
Tumours
Sheehan Syndrome
397
Infertility: Female Infertility - Ovarian Gynaecological Aetiologies (2)
PCOS
Premature ovarian failure
398
Infertility: Female Infertility - Pharmaceutical Aetiologies (3)
Depo-provera
Explanon
OCP
399
Infertility: Female Infertility - Common causes of secondary infertility (5)
Tubal disease
Fibroids
Endometriosis or Adenomyosis
Obesity
Over 30 years old
400
Infertility: Male Infertility - Endocrine causes (4)
Hypogonadotrophic hypogonadism
Hypothyroidism
Hyperprolactinaemia
Diabetes
401
Infertility: Male Infertility - Non-obstructive aetiologies (4)
47 XXY
Chemotherapy
Radiotherapy
Undescended testes
402
Infertility: Male Infertility - Clinical features of non-obstructive infertility (3)
Low testicular volume
Reduced secondary sexual characteristics
Vas deferens present
403
Infertility: Male Infertility - Endocrine features of non-obstructive infertility (3)
High LH
High FSH
Low testosterone
404
Infertility: Male Infertility - Obstructive Aetiologies (3)
Congenital absence
Infection
Vasectomy
405
Infertility: Male Infertility - Clinical features of Obstructive Infertility (3)
Normal testicular volume
Normal secondary sexual characteristics
Vas deferens may be absent
406
Infertility: Male Infertility - Endocrine features of Obstructive infertility? (3)
Normal LH
Normal FSH
Normal Testosterone
407
Infertility: Diagnosis - How. totest for infection?
Endocervical swab for chlamydia
408
Infertility: Diagnosis - Check for immunity of what and how?
Blood Rubella IgG
409
Infertility: Diagnosis - Symptoms of Rubella Syndrome (3)
Microcephaly
Patent Ductus Arteriosus
Cateracts
410
Infertility: Diagnosis - What hormones should be tested and when?
Midluteal Progesterone Level - Day 21 of 28 day cycle or 7 days prior to expected period in prolonged cycles
411
Infertility: Diagnosis - What progesterone suggests ovulation?
>30 nmol/L
412
Infertility: Diagnosis - How to test for tubal patency?
Laproscopy
413
Infertility: Diagnosis - Contraindications for Laproscopy (3)
Obesity
Previous pelvic surgery
Crohn's Disease
414
Infertility: Diagnosis - If laparoscopy is contraindicated what is done?
Hysterosalpingiogram
415
Infertility: Diagnosis - If Hirsute test what? (2)
Testosterone
Sex Hormone Binding Globulin
416
Infertility: Diagnosis - If Amenorrhoea test what? (2)
Chromosome analysis
Endocrine profile - HCG, Prolactin, TSH, Testosterone, SHBG, LH, FSH and Oestradiol
417
Infertility: Male Diagnostic Test
Semen analysis - twice over 6 weeks apart
418
Infertility: Male Diagnosis - If abnormal semen analysis (5)
LH
FSH
Testosterone
Prolactin
Thyroid function
419
Infertility: Male Diagnosis - If azoospermic or severely abnormal semen (4)
Endocrine profile
Chromosome analysis and Y chromosome microdeletion analysis
Screen for CF
Testicular biopsy
420
Infertility: Male Diagnosis - If abnormal on genital examination
Scrotal US
421
Infertility: Female Management - Vitamin Supplements (2)
Folic Acid - 400 micrograms daily before pregnancy and for the first 12 weeks
Vitamin D - 10 micrograms per day for pregnanct or lactating women
422
Infertility: Female Management - Examples of reproductive surgery (3)
Division of pelvic adhesions
Removal of tubal block
Removal of polyps and fibroids
423
Hydrosalpinges
Fallopian tube filled with water
424
Infertility: Female Management - Patients with hydrosalpinges
Laparoscopic salpingectomy before IVF treatment
425
Infertility: Male Management - Surgical options
Surgery for obstructed vas deferens
426
Infertility: Male Management - Oligozoospermia Mild Disease
Intrauterine insemitation
427
Infertility: Male Management - Oligozoospermia Options (2)
Intracytoplasmic Sperm Injection - sperm into egg
Surgical sperm aspiration - sperm recovery from epididymis or testicle combinded with ICSI
428
Infertility: Complications of Management - Risk of ovulation induction or assisted conception? (3)
Ovarian hyperstimulation
Multiple pregnancy
Ovarian cancer
429
Infertility: Complications of Management - Ovarian Hyperstimulation occurs when?
If injectable hormone medication
430
Ovulation Disorders: Group I
Hypothalmic Failure
431
Ovulation Disorders: Group I - Aetiologies (5)
Stress
Excessive exercise
Anorexia
Kallman's Syndrome
Isolated Gonadotrophin Deficiency
432
Ovulation Disorders: Group I - Endocrine profile (3)
Low FSH + LH + Oestrogen
Normal prolactin
Negative progesterone challenge
433
Ovulation Disorders: Group II
Hypothalamic-Pituitary Dysfunction
434
Ovulation Disorders: Group II - Endocrine profile (3)
Normogonadotrophic
Normoestrogenic
Anovulation - PCOS
435
Ovulation Disorders: Group III
Ovarian failure due to follicular depletion
436
Ovulation Disorders: Group III - Endocrine profile (2)
High FSH + LH
Low Oestrogen
437
Premature Ovarian Failure
Menopause before 40 years of age
438
Aetiologies of Premature Ovarian Failure (4)
Turner Syndrome
Autoimmune ovarian failure
Bilateral oophrectomy
Pelvic chemotherapy or radiotherapy
439
Ovulation Disorders: Menstrual bleeding normally lasts how long?
<5 days
440
Oligomenorrhoea
Menstrual cycles >42 days - having less than 8 periods per year
441
Amenorrhoea
Absent menstruation
- Primary - never menstruated
- Secondary - Menstruation started then stops
442
Ovulation Disorders: Diagnosis - How to confirm regular cycles?
Mid-luteal D21 serum Progesterone >30 nmol/L in 2 samples
443
Ovulation Disorders: Diagnosis - Progesterone Challenge Test process and results
Administration of progesterone to induce a period (provera 5mg BD x 5 days)
Withdrawal bleed usually within 7-10 days of progesterone - this indicates normal oestrogen
444
Ovulation Disorders: Diagnosis - If progesterone challenge test results in no bleeding what may this indicate? (4)
Low oestrogen
Uterine or Endometrial abnormalities
Cervical stenosis
Asherman's Syndrome
445
Ovulation Disorders: Group I Management
Pulsatile GNRH (SC/IB pump) OR daily gonadotrophin daily injections
446
Ovulation Disorders: Group I Management - Monitoring
Ultrasound monitoring of follicle tracking
447
Anorexia Nervosa
An eating disorder characterised by a pathological fear of gaining weight and distorted body image
448
Anorexia Nervosa: Clinical Presentation (5)
Low BMI
Loss of Hair
Lanugo - thin soft and unpigmented hair
449
Anorexia Nervosa: Endocrine Profile (3)
Low FSH
Low LH
Low Oestradiol
450
Polycystic Ovary Syndrome
Disorder characterised by hyperandrogenism, anovulation and/or the presence of polycystic ovaries
451
Polycystic Ovary Syndrome: Affects what % of women of reproductive age?
5-15%
452
Polycystic Ovary Syndrome: Exacerbated by what?
Weight gain
453
Polycystic Ovary Syndrome: Impact of glucose on this disorder?
Glucose acts as a co-gonadotrophin to LH - elevates LH and changes LH:FSH ratio
454
Polycystic Ovary Syndrome: Impact of insulin on this disorder?
Lowers SHBG to increase free testosterone
455
Polycystic Ovary Syndrome: Clinical Presentation (4)
Obesity
Hirsutism
Acne
Menstrual Cycle Abnormalities
456
Polycystic Ovary Syndrome: Diagnosis - What criteria is used?
Rotterdam
457
Polycystic Ovary Syndrome: Diagnosis - Rotterdam Diagnostic Criteria
Must score 2/3:
- Chronic Anovulation
- Polycystic Ovaries on US - 12+ 2-9mm follicles with increased ovarian volume
Hyperandrogenism - clinical or biochemical
458
Polycystic Ovary Syndrome: Diagnosis - Endocrine Features (3)
High free androgens - Oestrogen
High LH or normal gonadotrophins
Impaired glucose tolerance
459
Polycystic Ovary Syndrome: Management - First Line
Oral Clomifene Citrate - 50-100 mg tablet on days 2-6
460
Polycystic Ovary Syndrome: Management - Second Line
Daily Gonadotrophin Therapy - HMG (FSH + LH) + rFSH
461
Polycystic Ovary Syndrome: Management - Third Line
Laparoscopic Ovarian Diathermy - disrupts ovarian cortex and stroma
462
Premature Ovarian Failure: Aetiologies (4)
Genetic - Fragile X Syndrome, Turner's Syndrome or XX gonadal agenesis
Autoimmune ovarian failure
Oophrectomy
Chemo- or Radiotherapy
463
Premature Ovarian Failure: Clinical Presentation (5)
Hot flushes
Night sweats
Atrophic vaginitis
Amenorrhoea
Infertility
464
Premature Ovarian Failure: Diagnosis - Endocrine Features (3)
High FSH
High LH
Low Oestradiol
465
Premature Ovarian Failure: Management
HRT
466
Tubal Disease: Aetiologies of Infective Types (3)
Pelvic Inflammatory Disease
Transperitoneal spread
Iatrogenic
467
Tubal Disease: Examples of Pelvic Inflammatory Disease (4)
Chlamydia
Gonorrhoea
Syphilis
TB
468
Tubal Disease: Aetiologies for transperitoneal spread (2)
Appendicitis
Intra-abdominal abscesses
469
Tubal Disease: Iatrogenic causes of infective tubal disease (3)
IUCD Insertion
Hysterectomy
Hysterosalpingogram
470
Tubal Disease: Non-infective Aetiologies (5)
Endometriosis
Surgical - via sterilisation or ectopic pregnancies
Fibroids
Polyps
Salpingitis isthmica Nodosa
471
Tubal Disease: Pelvic Inflammatory Disorder - Clinical Presentation (8)
Abdominal and Pelvic Pain
Febrile
Vaginal discharge
Dyspareunia - recurrent genital pain associated with sexual intercourse
Cervical excitation
Dysmenorrhoea
Infertility
Ectopic pregnancy
472
Endometriosis
Presence of endometrial glands outside the uterine cavity
473
Tubal Disease: Endometriosis - Most likely cause
Retrograde menstruation
474
Tubal Disease: Endometriosis - Clinical presentation (6)
Dysmenorrhoea
Dysparenuria
Menorrhagia
Painful defaecation
Chronic pelvic pain
Infertility
475
Tubal Disease: Endometriosis - Diagnosis
US Scan - shows chocolate cysts on ovary
476
Male Hypogonadism
Clinical syndrome comprising signs, symptoms and biochemical evidence of testosterone deficiency
477
Male Hypogonadism: Peak of incidence
40-79 years old
478
Male Hypogonadism: Primary Hypogonadism - Congenital Causes (3)
Klinefelter's Syndrome
Cryptochidism
Y-chromosome microdeletions
479
Male Hypogonadism: Primary Hypogonadism - Acquired causes (6)
Testicular trauma or torsion
Chemotherapy or Radiotherapy
Varicocele
Orchitis - Mumps
Infiltrative diseases - haemochromatosis
Medications e.g. Glucocorticoids and Ketoconzaole
480
Male Hypogonadism: Primary Hypogonadism - Pathophysiology
Decreased testosterone causes decreased negative feedback
Anterior pituitary secretes higher amounts of LH or FSH to cause hypergonadotrophic hypogonadism
481
Male Hypogonadism: Primary Hypogonadism - What is the main effect?
Spermatogenesis
482
Male Hypogonadism: Secondary Hypogonadism - Pathophysiology
Hypothalamus or Pituitary is affected causing low LH or FSH despite low testosterone to cause hypogonadotrophic hypogonadism
483
Male Hypogonadism: Secondary Hypogonadism - Congenital causes (2)
Kallmann's Syndrome
Prader-Willi Syndrome
484
Male Hypogonadism: Secondary Hypogonadism - Acquired causes (6)
Pituitary damage
Hyperprolactinaemia
Obesity
Medications - Steroid or Opioids
Eating disorders
Excessive exercise
485
Male Hypogonadism: Secondary Hypogonadism - Causes of pituitary damage (5)
Tumours
Infiltrative Disease
Infection
Apoplexy
Head Trauma
486
Male Hypogonadism: Clinical Presentation - Pre-Pubertal Onset Sexual organs
Small male sexual organs e.g. small testes volume, penis and prostate
487
Male Hypogonadism: Clinical Presentation - Pre-Pubertal Onset Skin
Decreased body hair
488
Male Hypogonadism: Clinical Presentation - Pre-Pubertal Onset Voice
High-pitched voice
489
Male Hypogonadism: Clinical Presentation - Pre-Pubertal Onset Sex Drive
Low libido
490
Male Hypogonadism: Clinical Presentation - Pre-Pubertal Onset MSK (3)
Gynaecomastia
Decreased bone mass
Decreased muscle mass
491
Male Hypogonadism: Clinical Presentation - Pre-Pubertal Onset Limbs
Eunuchoidal Habitus - Tall slim with long arms and legs
492
Male Hypogonadism: Clinical Presentation - Pre-Pubertal Onset with Kallmann's Syndrome
Asomnia
493
Male Hypogonadism: Clinical Presentation - Post-Pubertal Onset Sex (2)
Decreased libido
Decreased spontaneous erections
494
Male Hypogonadism: Clinical Presentation - Post-Pubertal Onset Hair
Decreased pubic and axillary hair and shaving frequency
495
Male Hypogonadism: Clinical Presentation - Post-Pubertal Onset Musculoskeletal system (3)
Gynaecomastia
Decreased bone mass
Decreased muscle mass
496
Male Hypogonadism: Diagnosis - Main test
Testosterone measurement
497
Male Hypogonadism: Diagnosis - Testosterone measurement
Measure total testosterone and SHBG - calculate free testosterone
498
Male Hypogonadism: Diagnosis - Measure Testosterone when?
Between 8-11 am as it peaks in the morning
499
Male Hypogonadism: Diagnosis - Factors that increase [SHBG] (6)
Ageing
Hyperthyroidism
Hyperoesteogenaemia
Liver disease
HIV
Use of anti-convulsants
500
Male Hypogonadism: Diagnosis - Factors that decrease [SHBG] (8)
Obesity
Insulin resistance and diabetes
Hypothyroidism
Growth hormone excess
Glucocorticoids
Androgens
Progestins
Nephrotic syndrome
501
Male Hypogonadism: Management - First Line
Testosterone Replacement Therapy
502
Male Hypogonadism: Testosterone Replacement Therapy - Contraindications (4)
Confirmed hormone responsive cancer e.g. prostate or breast cancer
Possible prostate cancer - increased PSA
Haematocrit >50%
Severe sleep apnoea or heart failure
503
Male Hypogonadism: Testosterone Replacement Therapy - When is monitoring required?
3-6 months then annually
504
Klinefelter's Syndrome: Pathophysiology
Non-disjunction 47 XXY or 46 XY or 47 XXY mosaicism
505
Klinefelter's Syndrome: Clinical presentation in males
Infertile due to tubular damage and have small firm testes
506
Klinefelter's Syndrome: Increases the risk of what? (2)
Breast cancer
Non-Hodgkin Lymphoma
507
Kallmann's Syndrome
Genetic disorder that causes that causes hypogonadotropic hypogonadism and an impaired sense of smell
508
Kallmann's Syndrome: Higher incidence in what sex?
Males
509
Kallmann's Syndrome: Characterised by what?
Isolated GnRH deficiency with hyposmia or anosmia
510
Kallmann's Syndrome: Clinical presentation (4)
Unilateral renal agenesis
Red-green colour blindness
Cleft lip or palate
Bimanual synkinesis
511
Multiple Endocrine Neoplasia Type I
Hereditary endocrine cancer syndrome
512
Multiple Endocrine Neoplasia Type I: Characterised primarily by what? (4)
Tumours of the:
- Parathyroid Glands
- Endocrine Gastroenteropancreatic tract
- Anterior pituitary
513
Multiple Endocrine Neoplasia Type I: Inheritance pattern
Autosomal dominant
514
Von Hippel-Lindau
Inherited disorder causing multiple tumours of the CNS and viscera
515
Von Hippel-Lindau: Pathophysiology
Autosomal dominant mutation in the VHL gene which leads to an accumulation of HIF proteins and stimulation of cellular proliferation
516
Neurofibromatosis Type I
Genetic condition that causes tumours along the nervous system
517
Neurofibromatosis Type I: Pathophysiology
Mutation in the NF1 gene
518
Neurofibromatosis Type I: Diagnosis
>2 of the following are diagnostic
>5 cafe au lait macules
Neurofibromatosis of any type - most common is neurofibroma
Axillary or inguinal freckling
Optic glioma
>2 Lisch nodules
Distinctive osseous lesion
First degreee relative with NF 1
