Endocrine Flashcards

1
Q

What is the cause of excessive sweating and oily skin in acromegaly?

A

caused by sweat gland hypertrophy

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2
Q

4 Complications of acromegaly

A
  1. HTN
  2. DM
  3. CARDIOMYOPATHY
  4. COLORECTAL CANCER
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3
Q

What is the confirmatory test of acromegaly if IGF-1 LEVEL is raised ?

A

Oral glucose tolerance test

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4
Q

In Oral glucose tolerance test
in normal patients GH is suppressed to < …….. mu/L with hyperglycaemia

A

< 2

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5
Q

Acromegaly: management

A

Trans-sphenoidal surgery is the first-line treatment for acromegalyin the majority of patients.

If a pituitary tumour is inoperable or surgery unsuccessful then medication may be indicated:

  1. somatostatin analogue : octreotide
  2. pegvisomant
  3. dopamine agonists : bromocriptine

External irradiation is sometimes used for older patients or following failed surgical/medical treatment

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6
Q

somatostatin analogue directly inhibits ……

A

the release of growth hormone

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7
Q

GH receptor antagonist ( pegvisomant ) - prevents ….

A

dimerization of the GH receptor

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8
Q

10 Acute phase proteins

A
  1. CRP
  2. procalcitonin
  3. ferritin
  4. fibrinogen
  5. alpha-1 antitrypsin
  6. caeruloplasmin
  7. serum amyloid A
  8. serum amyloid P component**
  9. haptoglobin
  10. complement
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9
Q

During the acute phase response the liver decreases the production of other proteins ( negative acute phase proteins)
(5)

A

albumin

transthyretin (formerly known as prealbumin)

transferrin

retinol binding protein

cortisol binding protein

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10
Q

causes of hypoadrenalism

A

Primary causes
1. tuberculosis
2. metastases(e.g. bronchial carcinoma)
3. meningococcal septicaemia (Waterhouse-Friderichsen syndrome)
4. HIV
5. antiphospholipid syndrome

Secondary causes
- pituitary disorders (e.g. tumours, irradiation, infiltration)

Exogenous glucocorticoid therapy

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11
Q

Management of addisonian crisis

A
  1. hydrocortisone 100 mg im or iv continue 6 hourly until the patient is stable.
  2. oral replacement may begin after 24 hours and be reduced to maintenance over 3-4 days
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12
Q

Causes of raised alkaline phosphatase (ALP)

A

liver: cholestasis, hepatitis, fatty liver, neoplasia

Paget’s

osteomalacia

bone metastases

hyperparathyroidism

renal failure

physiological:pregnancy, growing children, healing fractures

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13
Q

2 Causes of Raised ALP and raised calcium

A

Bone metastases
Hyperparathyroidism

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14
Q

Children are screened for Congenital hypothyroidism at …. days using …….. test

A

Children are screened at 5-7 days using the heel prick test

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15
Q

In Toxic multinodular goitre
The treatment of choice is …..

A

radioiodine therapy.

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16
Q

painful goitre and raised ESR

A

Subacute thyroiditis (de Quervain’s)

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17
Q

Management of Thyroid eye disease

A

smoking cessation

topical lubricants may be needed to help prevent corneal inflammation caused by exposure

steroids

radiotherapy

surgery

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18
Q

4 phases of Subacute thyroiditis

A

phase 1 (lasts 3-6 weeks): hyperthyroidism,painful goitre,raised ESR

phase 2 (1-3 weeks): euthyroid

phase 3 (weeks - months): hypothyroidism

phase 4: thyroid structure and function goes back to normal

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19
Q

thyroid scintigraphy:globally reduced uptake of iodine-131

In which condition?

A

Subacute thyroiditis

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20
Q

Riedel’s thyroiditis is associated with ……..

A

retroperitoneal fibrosis.

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21
Q

SGLT-2 inhibitors reversibly inhibit ……..

A

sodium-glucose co-transporter 2 (SGLT-2) in the renal proximal convoluted tubule to reduce glucose reabsorption and increase urinary glucose excretion

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22
Q

Side effects of SGLT2

A

urinary and genital infection (secondary to glycosuria).Fournier’s gangrene has also been reported

normoglycaemic ketoacidosis

increased risk of lower-limb amputation: feet should be closely monitored

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23
Q

women with established hypothyroidism who become pregnant should have their dose increased ‘by

A

At least 25 - 50 mcg levothyroxine

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24
Q

Mechanism of action of Carbimazole

A

blocks thyroid peroxidase from coupling and iodinating the tyrosine residues on thyroglobulin → reducing thyroid hormone production

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25
Adverse effects of carbimazole
agranulocytosis crosses the placenta, but may be used in low doses during pregnancy
26
Autoantibodies of Graves' disease
TSH receptor stimulating antibodies (90%) anti-thyroid peroxidase antibodies (75 %)
27
Thyroid scintigraphy diffuse, homogenous, increased uptake of radioactive iodine In which condition?
Graves' disease
28
Radioiodine treatment is contraindicated in
1. pregnancy (should be avoided for 4-6 months following treatment) 2. age < 16 years. T 3. Thyroid eye disease is a relative contraindication, as it may worsen the condition
29
Hashimoto's thyroiditis is associated with the development of ......lymphoma
MALT lymphoma
30
Management of papillary and follicular cancer
total thyroidectomy followed by radioiodine (I-131) to kill residual cells yearly thyroglobulin levels to detect early recurrent disease
31
What is the most commonly can cause ectopic ACTH production
small cell lung cancer
32
ACTH independent causes of Cushing's syndrome
iatrogenic: steroids adrenal adenoma (5-10%) adrenal carcinoma (rare) Carney complex: syndrome including cardiac myxoma micronodular adrenal dysplasia (very rare)
33
What is Pseudo-Cushing's?
alcohol excess or severe depression causes false positive dexamethasone suppression test or 24 hr urinary free cortisol insulin stress test may be used to differentiate
34
Tests to confirm Cushing's syndrome L
1. overnight (low-dose) dexamethasone suppression test this is the most sensitive test and is now used first-line to test for Cushing's syndrome 2. 24 hr urinary free cortisol two measurements are required 3. bedtime salivary cortisol two measurements are required
35
Causes of Decreased excretion of Uric acid
drugs: low-dose aspirin, diuretics, pyrazinamide pre-eclampsia alcohol renal failure lead
36
Increased synthesis of Uric acid
Lesch-Nyhan disease myeloproliferative disorders diet rich in purines exercise psoriasis cytotoxics
37
4 Causes of Hypokalaemia with hypertension
Cushing's syndrome Conn's syndrome (primary hyperaldosteronism) Liddle's syndrome 11-beta hydroxylase deficiency* * 2CL11
38
5 causes of hypokalaemia without hypertension
1. Diuretics 2. Bartter's syndrome 3. Gitelman syndrome 4. GI loss ( diarrhoea, vomiting) 5. RTA ( type 1 & 2)
39
Bartter's syndrome is autosomal .........
autosomal recessive
40
Bartter's syndrome cause severe  hypokalaemia  due to defective ...........
chloride absorption at the Na+ K+ 2Cl- cotransporter (NKCC2) in the ascending loop of Henle
41
Features of Bartter's syndrome
1. usually presents in childhood, e.g. Failure to thrive 2. polyuria, polydipsia 3. hypokalaemia 4. normotension 5. weakness
42
Autoimmune polyendocrinopathy syndrome type 1
(2 out of 3 needed) 1. chronic mucocutaneous candidiasis (typically first feature as young child) 2. Addison's disease 3. primary hypoparathyroidism * Vitiligo can occur
43
Autoimmune polyendocrinopathy syndrome type 2
Addison's disease plus either: 1. T1DM 2. autoimmune thyroid disease * Vitiligo can occur
44
Management of Diabetic neuropathy
first-line treatment: amitriptyline, duloxetine, gabapentin or pregabalin if the first-line drug treatment does not work try one of the other 3 drugs tramadol may be used as 'rescue therapy' for exacerbations of neuropathic pain topical capsaicin may be used for localised neuropathic pain (e.g. post-herpetic neuralgia) pain management clinics may be useful in patients with resistant problems
45
Management of Gastroparesis
metoclopramide or domperidone  or erythromycin
46
3 Causes of higher than expected levels of HbA1c
Vitamin B 12 / folic acid deficiency IDA Splenectomy
47
glycaemic index (GI) describes ....
capacity of a food to raise blood glucose compared with glucose in normal glucose-tolerant individuals
48
Mechanism of action of Metformin
1. Increases insulin sensitivity 2. Decreases hepatic gluconeogenesis
49
Metformin is contraindicated if GFR
< 30
50
Sulfonylureas Stimulate
pancreatic beta cells to secrete insulin
51
Mechanism of action of Thiazolidinediones
Activate PPAR-gamma receptor in adipocytes to promote adipogenesis and fatty acid uptake
52
DPP-4 inhibitors (-gliptins) Increases
incretin levels which inhibit glucagon secretion
53
SGLT-2 inhibitors (-gliflozins) Inhibits
reabsorption of glucose in the kidney
54
Mechanism of action of GLP-1 agonists (-tides)
Incretin mimetic which inhibits glucagon secretion
55
 adverse effects of sulfonylureas
1. Hypoglycemia 2. Weight gain 3. Hypo Na 4. bone marrow suppression 5. hepatotoxicity (typically cholestatic) 6. peripheral neuropathy
56
Sulfonylureas vs breastfeeding
should be avoided 
57
Sulfonylureas On a molecular level they  bind ........?........ on the cell membrane of pancreatic beta cells.
to an ATP-dependent K+(KATP) channel
58
5 Side effects of Thiazolidinediones
1. Weight gain 2. Liver Impairment 3. Fluid retention 4. Increase risk of fractures 5. Bladder cancer
59
prediabetes 1. FBG 2. HbA1C
1. 6.1-6.9 mmol/l 2. 42-47 mmol/mol (6.0-6.4%)
60
Phaeochromocytoma may be associated with
MEN type II, neurofibromatosis and von Hippel-Lindau syndrome
61
Tests of Phaeochromocytoma
1. 24 hr urinary collection of metanephrines (sensitivity 97%*) 2. 24 hr urinary collection of catecholamines (sensitivity 86%)
62
Management of Phaeochromocytoma
Surgery is the definitive management. The patient must first however be stabilized with medical management: alpha-blocker (e.g. phenoxybenzamine), given before a beta-blocker (e.g. propranolol)
63
the most common cause of Primary hyperaldosteronism
bilateral idiopathic adrenal hyperplasia: the cause of around 60-70% of cases
64
Investigations of Primary hyperaldosteronism
1. plasma  aldosterone/renin ratio is the first-line investigation in suspected primary hyperaldosteronism * should show high aldosterone levels alongside low renin levels 2. following this a high-resolution CT abdomen and adrenal vein sampling is used to differentiate between unilateral and bilateral sources of aldosterone excess * if the CT is normal  adrenal venous sampling (AVS) can be used to distinguish between unilateral adenoma and bilateral hyperplasia
65
Management of Primary hyperaldosteronism 
adrenal adenoma: surgery (laparoscopic adrenalectomy) bilateral adrenocortical hyperplasia: aldosterone antagonist e.g. spironolactone
66
Drugs causing SIADH
sulfonylureas* SSRIs, tricyclics carbamazepine vincristine cyclophosphamide
67
Causes of SIADH
1. Malignancy small cell lung cancer also: pancreas, prostate 2. Neurological Stroke SAH SUBDURAL HEMORRHAGE 3. Infections TB Pneumonia 4. Other causes positive end-expiratory pressure (PEEP) porphyrias
68
Investigations of SIADH
Urine osmolality: Urine osmolality is inappropriately high (>100 mOsm/kg) in relation to serum osmolality, as the kidneys should normally dilute urine in the setting of low serum osmolality. Urine sodium concentration: >40 mmol/L)
69
Management of SIADH
correction must be done slowly to avoid precipitating central pontine myelinolysis fluid restriction demeclocycline: reduces the responsiveness of the collecting tubule cells to ADH ADH (vasopressin) receptor antagonists have been developed
70
3 Contraindications of insulin stress test
1. Epilepsy 2. IHD 3. ADRENAL INSUFFICIENCY
71
Risk factors for gestational diabetes
BMI of > 30 kg/m² previous macrosomic baby weighing 4.5 kg or above previous gestational diabetes first-degree relative with diabetes family origin with a high prevalence of diabetes (South Asian, black Caribbean and Middle Eastern)
72
Screening for gestational diabetes with
OGTT is the test of choice
73
Pregnant women with any of the other risk factors should be offered an OGTT at.....?
at 24-28 weeks
74
Diagnostic thresholds for gestational diabetes
FBG >= 5.6 MMOL / L 2Hr GLUCOSE >= 7.8 MMOL / L
75
Management of gestational diabetes
1. if the fasting plasma glucose level is < 7 mmol/l a trial of diet and exercise should be offered if glucose targets are not met within 1-2 weeks of altering diet/exercise metformin should be started if glucose targets are still not met  insulin should be added  to diet/exercise/metformin gestational diabetes is treated  short-acting, not long-acting, insulin 2. if at the time of diagnosis the fasting  glucose level is >= 7 mmol/l insulin should be started 3. if the plasma glucose level is between 6-6.9 mmol/l, and there is evidence of complications such as macrosomia or hydramnios, insulin should be offered
76
Targets for self monitoring of pregnant women (pre-existing and gestational diabetes) Fasting .......? 1 hr after meal .......? 2 hr after meal .......?
Fasting 5.3 1 hr after meal 7.8 2 hr after meal 6.4
77
Meglitinides increase
pancreatic insulin secretion like sulfonylureas they bind to an ATP-dependent K+(KATP) channel on the cell membrane of pancreatic beta cells
78
MODY associated with HNF1A often respond well to treatment with ......?
low-dose sulfonylureas
79
The most common types of MODY
MODY2 (GCK mutation) 
80
Causes of hypoglycemia
insulinoma - increased ratio of proinsulin to insulin self-administration of insulin/sulphonylureas liver failure Addison's disease alcohol nesidioblastosis - beta cell hyperplasia
81
Physiological response to hypoglycaemia
hormonal response: the first response of the body is decreased insulin secretion. This is followed by increased glucagon secretion. Growth hormone and cortisol are also released but later sympathoadrenal response: increased catecholamine-mediated (adrenergic) and acetylcholine-mediated (cholinergic) neurotransmission in the peripheral autonomic nervous system and in the central nervous system
82
Very high glucocorticoid activity, minimal mineralocorticoid activity Which preparation?
Dexamethasone Betmethasone
83
Glucocorticoid activity, high mineralocorticoid activity, Which preparation?
Hydrocortisone
84
Predominant glucocorticoid activity, low mineralocorticoid activityVery high glucocorticoid activity, minimal mineralocorticoid  Which preparation?
Prednisolone
85
Minimal glucocorticoid activity, very high mineralocorticoid activity, Which preparation?
Fludrocortisone
86
the BNF suggests gradual withdrawal of systemic corticosteroids if  patients have: (3)
1. received more than 40mg prednisolone daily for more than one week 2. received more than 3 weeks of treatment 3. recently received repeated courses
87
Mineralocorticoid side-effects
fluid retention hypertension
88
ophthalmic Glucocorticoid side-effects
glaucoma cataracts
89
psychiatric Glucocorticoid side-effects
insomnia mania depression psychosis
90
Causes of Hypokalaemia with alkalosis
vomiting thiazide and loop diuretics Cushing's syndrome Conn's syndrome (primary hyperaldosteronism)
91
6 Causes of Hypophosphataemia
alcohol excess acute liver failure diabetic ketoacidosis refeeding syndrome primary hyperparathyroidism osteomalacia
92
Liddle's syndrome is 
HTN HYPOKALAEMIC ALKALOSIS
93
Treatment of Liddle's syndrome 
Treatment is with either amiloride or triamterene
94
Causes of primary hyperparathyroidism
85%: solitary adenoma 10%: hyperplasia 4%: multiple adenoma 1%: carcinoma
95
Pendred's syndrome
bilateral sensorineural deafness, with mild hypothyroidism and a goitre
96
Treatment of Pendred's syndrome
Treatment is with thyroid hormone replacement and cochlear implants.
97
Pseudohypoparathyroidism Associated with Labs ?
associated with low IQ, short stature, shortened 4th and 5th metacarpals low calcium, high phosphate, high PTH diagnosis is made by measuring urinary cAMP and phosphate levels following an infusion of PTH
98
What's Pseudopseudohypoparathyroidism?
similar phenotype to pseudohypoparathyroidism but normal biochemistry
99
Pseudohypoparathyroidism is caused by 
target cell insensitivity to parathyroid hormone (PTH) due to a mutation in a G-protein.
100
Investigations of Pseudohypoparathyroidism
↑ PTH ↓ calcium ↑ phosphate infusion of PTH followed by measurement of urinary phosphate and cAMP measurement - this can help differentiate between type I (neither phosphate or cAMP levels rise) and II (cAMP rises but phosphate levels do not change)
101
Type 1 vs type 2 of pseudohypoparathyroidism
Type 1 >>> complete receptor defect type 2>>> the cell receptor is intact
102
Drug causes of raised prolactin
metoclopramide, domperidone phenothiazines haloperidol very rare: SSRIs, opioids
103
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) Drugs
104
Pituitary adenomas can be classified according to size 
microadenoma is <1cm  macroadenoma is ≥1cm)
105
Orlistat is a ........................ inhibitor
pancreatic lipase inhibitor
106
criteria for use Liraglutide in obesity
1. BMI >= 35 2. Pre diabetes
107
Galactosaemia is a rare autosomal ...1........ condition caused by .....2.....
1. autosomal recessive 2. the absence of galactose-1-phosphate uridyl transferase
108
Features of Galactosaemia
jaundice failure to thrive hepatomegaly cataracts hypoglycaemia after exposure to galactose Fanconi syndrome
109
Causes of gynaecomastia
physiological: normal in puberty syndromes with androgen deficiency: Kallman's, Klinefelter's testicular failure: e.g. mumps liver disease testicular cancer e.g. seminoma secreting hCG ectopic tumour secretion hyperthyroidism haemodialysis drugs: 
110
Drug causes of gynaecomastia
spironolactone (most common drug cause) cimetidine digoxin cannabis finasteride GnRH agonists e.g. goserelin, buserelin oestrogens, anabolic steroids Very rare drug causes of gynaecomastia tricyclics isoniazid calcium channel blockers heroin busulfan methyldopa
111
Causes of predominantly hypertriglyceridaemia
diabetes mellitus (types 1 and 2) obesity alcohol chronic renal failure drugs: thiazides, non-selective beta-blockers, unopposed oestrogen liver disease
112
Causes of predominantly hypercholesterolaemia
nephrotic syndrome cholestasis hypothyroidism
113
Water deprivation test  In psychogenic polydipsia 1. Sarting Plasma Osmolality 2. Final urine osmolality  3. Urine osmolality post DDAVP
1. Low 2. > 400 3. > 400
114
Water deprivation test  In cranial DI 1. Sarting Plasma Osmolality 2. Final urine osmolality  3. Urine osmolality post DDAVP
1. High 2. <300 3. > 600
115
Water deprivation test  In nephrogenic DI 1. Sarting Plasma Osmolality 2. Final urine osmolality  3. Urine osmolality post DDAVP
1. High 2. < 300 3. < 300
116
Water deprivation test  In normal 1. Sarting Plasma Osmolality 2. Final urine osmolality  3. Urine osmolality post DDAVP
1. Normal 2. > 600 3. > 600
117
Risk factors of Urinary incontinence
advancing age previous pregnancy and childbirth high body mass index hysterectomy family history
118
Immediate release oxybutynin should, however, be avoided in .....?
frail older women'
119
the Rotterdam criteria state that a diagnosis of PCOS can be made if 2 of the following 3 are present:
1. infrequent or no ovulation (usually manifested as infrequent or no menstruation) 2. clinical and/or biochemical signs of hyperandrogenism (such as hirsutism, acne, or elevated levels of total or free testosterone) 3. polycystic ovaries on ultrasound scan (defined as the presence of ≥ 12 follicles (measuring 2-9 mm in diameter) in one or both ovaries and/or increased ovarian volume > 10 cm³)
120
Treatment of Hirsutism and acne (PCOS)
1. third generation OCP which has fewer androgenic effects or co-cyprindiol which has an anti-androgen action.  2. if doesn't respond then topical eflornithine may be tried 3. spironolactone, flutamide and finasteride may be used under specialist supervision
121
Treatment of infertility in PCOS
metformin is also used, either combined with clomifene or alone, particularly in patients who are obese gonadotrophins
122
Treatment of Premature ovarian insufficiency
hormone replacement therapy (HRT) or a combined oral contraceptive pill should be offered to women until the age of the average menopause (51 years) it should be noted that HRT does not provide contraception, in case spontaneous ovarian activity resumes
123
Risk factors of ovarian cancer
family history: mutations of the BRCA1 or the BRCA2 gene many ovulations*: early menarche, late menopause,
124
Investigations of ovarian cancer
1. CA 125 if >= 35 IU/ML THEN ultrasound of abdomen and pelvis should be ordered
125
Neuroblastoma arises from .......
neural crest tissue of the adrenal medulla (the most common site) and sympathetic nervous system.
126
MEN tpye 1
3 Ps 1. Pituitary tumour: prolactinoma 2. Primary hyperparathyroidism 3. Pancreatic tumour: gastrinoma , insulinoma
127
MEN type 2a
2Ps 1. Primary hyperparathyroidism 2. Phaeochromocytoma 3. Medullary thyroid cancer
128
MEN TYPE 2b
1P 1. Phaeochromocytoma 2. Medullary thyroid cancer 3. Marfanoid body habitus
129
The most common presentation of MEN1
Hypercalcaemia
130
RET oncogene can be found in
MEN type 2a & 2b
131
For a diagnosis of metabolic syndrome at least 3 of the following should be identified:
1. FBG > 5.6 mmol / L 2. BP > 130 / 85 or active treatment of HTN 3. HDL < 1.03 in males or < 1.29 in females 4. Waist circumference : men > 102 cm , women > 88 cm
132
Potential complications of Hormone replacement therapy
1. increased risk of breast cancer 2. increased risk of endometrial cancer 3. increased risk of venous thromboembolism 4. increased risk of stroke 5. increased risk of IHD
133
Fibrates work through activating ........... resulting in an increase in .............. reducing triglyceride levels.
activating PPAR alpha receptors  resulting in an increase in LPL activity reducing triglyceride levels.
134
Fibrates side effects
gastrointestinal side-effects are common increased risk of  thromboembolism
135
Ezetimibe is a lipid-lowering drug which inhibits .............., decreasing cholesterol absorption in ............
inhibits cholesterol receptors on enterocytes, decreasing cholesterol absorption in the small intestine.
136
for treating primary hypercholesterolaemia in adults in whom initial statin therapy is contraindicated or who cannot tolerate statin therapy, recommended to start .....
Ezetimibe
137
one parent is affected by familial hypercholesterolaemia, arrange testing in children by age ....?
by age 10
138
if both parents are affected by familial hypercholesterolaemia, arrange testing in children by age .....?
by age 5
139
statins should be discontinued in women ....... months before conception due to the risk of congenital defects
3 months
140
insulinoma is a neuroendocrine tumour deriving mainly from .........?
from pancreatic Islets of Langerhans cells
141
Diagnosis of insulinoma
supervised, prolonged fasting (up to 72 hours) CT pancreas
142
Management of insulinoma
surgery diazoxide and somatostatin if patients are not candidates for surgery
143
Klinefelter's syndrome is associated with karyotype ........
karyotype 47, XXY.
144
Diagnosis of Klinefelter's syndrome by
By karyotype ( chromosomal analysis )
145
Features of which condition? often  taller  than average lack of secondary sexual characteristics small, firm testes infertile gynaecomastia - increased incidence of breast cancer elevated gonadotrophin levels  but  low testosterone
Klinefelter's syndrome
146
Managment of Klinefelter's syndrome
testosterone supplementation gonadotrophin supplementation may result in sperm production if fertility is desired later in life
147
4 Risk factors of Endometrial cancer
1. hereditary non-polyposis colorectal carcinoma 2. Metabolic syndrome 3. tamoxifen 4. excess oestrogen ( early menarche, late menopause)
148
3 Protective factors of endometrial cancer
multiparity combined oral contraceptive pill smoking (the reasons for this are unclear)
149
What is the most important factor in the development of cervical cancer
Human papillomavirus (HPV), particularly serotypes 16,18 & 33 
150
Cervical cancer may be divided into :
squamous cell cancer (80%) adenocarcinoma (20%)
151
7 Risk factors of cervical cancer
1. Smoking 2. HIV 3. HPV 4. early first intercourse, many sexual partners 5. High parity 6. Combined OCP 7. Lower socio-economic status
152
Causes of Congenital adrenal hyperplasia
21-hydroxylase deficiency (90%) 11-beta hydroxylase deficiency (5%) 17-hydroxylase deficiency (very rare * 11, 17 , 21
153
Androgen insensitivity syndrome is condition due to end-organ resistance to testosterone causing genotypically male children (.....XY) to have a female phenotype.
(46XY)
154
Management of androgen insensitivity syndrome
counselling - raise the child as female bilateral orchidectomy (increased risk of testicular cancer due to undescended testes) oestrogen therapy
155
Metabolic syndrome associated with
1. High uric acid 2. NAFLD 3. PCOS
156
Serum osmolality in HHS
> 320 mosmol/kg