Endocrinology Flashcards

1
Q

Define Adrenal Insufficiency

A

Destruction of adrenal cortex with reduced adrenal output

Can be Primary (Addison’s) or Secondary

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2
Q

Causes of Adrenal Insufficiency

A

AI most common in developed countries
TB most common in rest of world

Primary: Addisons, Adrenectomy, Trauma, Infection, Haemorrhage, infarction, neoplasm
Secondary: Congenital, Trauma, CAH
Other: Suppression of axis, AIDS patients, Critically ill

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3
Q

Symptoms of adrenal insufficiency

A
Hypotension
Hypovolaemic shock
Fever
Vomiting
Fatigue
Weakness
Anorexia
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4
Q

Signs of adrenal insuffciency

A

Hyperpigmentation
Hypotension
Postural hypotension

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5
Q

What things would make you consider addisons?

A

Hypothyroidism / Women on thyroxine
Unexplained hypotension in T1DM
Presence of other AI conditions
Low Na+ and Low K+

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6
Q

Investigations for Adrenal insufficiency

A
Electrolytes (Low Na+, Raised K+)
FBC ( Anaemia, mild eosinophilia, WBC)
Glucose (Low)
LFTs (Raised)
ACTH (Raised in Primary, low/normal in secondary)
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7
Q

Management for Adrenal insufficiency

A

Medical emergency bracelet
Steroids (Hydrocortisone + Fludrocortisone in prmiary disease)
Double dose of hydrocortisone for surgery, infections

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8
Q

Manage acute Adrenal insufficiency

A

ICU
High dose Hydrocortisone Paternally
IV Fluid

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9
Q

Complications of Adrenal insufficiency

A

Adrenal crisis
Osteoporosis
Reduced QOL

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10
Q

Prognosis of Adrenal insuffciency

A

If untreated = fatal

Lifelong treatment but normal life

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11
Q

What is Acromegaly?

A

Growth hormone stimulates production of IGF-1. This is produced in liver and many other tissues.

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12
Q

What causes Acromegaly?

A

Usually caused by a pituitary tumour (1:3 microadenoma to macroadenoma)
Rarely, ectopic GH from non-endocrine tumours e.g. Lung cancer, cancer of the pancreas
Insidious onset and slow progression
Several familial causes (MEN1, Mccube-albright’s syndrome or familial isolated pituitary adenoma)

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13
Q

What are the risk factors for acromegaly?

A
GPR101 over-expression
MEN1
Isolated familial acromegaly
McCune-albright's syndrome
Carney's complex
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14
Q

What are the signs and symptoms of Acromegaly?

A
Coarsening of facial features
Soft-tissue and skin changes
Carpal tunnel syndrome
Joint pain and dysfunction
Snoring (macroglossia)
Alterations in sexual functioning
History or family history of inherited syndromes
Fatigue
Hypertension, arrhythmias
Organomegaly
Increased appetite, polyuria/polydipsia
Headaches
Visual field defects
Signs and symptoms of hypopituitarism
Cranal nerve palsies (ophthalmoplegia)
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15
Q

What investigations are done for Acromegaly?

A
Serum IGF-1 (elevated)
Oral glucose tolerance test (GH value >1 microgram/L)
Random serum GH
Pituitary MRI or CT scan (Adenoma)
Plasma cortisol (May be low)
TSH and free T4 (abnormal)
Estradiol or testosterone
Visual field testing
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16
Q

How do you manage Acromegaly?

A
Somatostatin analogues (Octreotice)
Dopamine agonists (Bromocriptine, cabergoline and quiagolide)
Pegyisomant (PEG)
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17
Q

How do you manage Acromegaly in pregnancy?

A

Medical therapy withheld during pregnancy
Short-acting octreotide used as needed when attempting to conceive
Patients with macroadenomas monitored for headaches and visual symptoms
Cabergoline safe to the foetus

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18
Q

What are complications of acromegaly?

A
Cardiac complications
Sleep apnoea
Osteoarticular complications
Impaired glucose tolerance and diabetes
Pre-cancerous polyps
Carpal tunnel syndrome
Hypopituitarism
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19
Q

What is Carcinoid syndrome?

A

Constellation of symptoms caused by systemic release of humoral factors from carcinoid tumours (tumour of neuroendocrine cells)

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20
Q

What causes carcinoid syndrome?

A

Slow-growing neuroendocrine tumours
Mostly derived from serotonin-producing enterochromaffin cells (Neural crest origin)
Common sites: Appendic, ileum, Rectum
Produce secretory products: Serotonin, Histamin, Tachykinins, kallikrein and prostaglandins
75-80% with it have small bowel carcinoids

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21
Q

What is important to know about Carcinoid syndrome in the bowel?

A

Hormones released into the portal circulation will be metabolised by the liver so symptoms dont appear untill there are hepatic metastases

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22
Q

What are the Risk factors for carcinoid syndrome?

A

None

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23
Q

What are the Symptoms of Carcinoid syndrome?

A
Paroxysmal flushing
Diarrhoea
Crampy abdominal pain
Wheeze
Sweating 
Palpitations
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24
Q

What are the signs of carcinoid syndrome?

A

Telangiectsia
Congestive cardiac failure (Due to tricuspid incompetence/pulmonary stenosis from serotnonin induced fibrosis)
Right-sided murmurs
Nodular hepatomegaly
Carcinoid crisis (When mediators flood out - often during surgery) [Profound flushing, Bronchospasm, Tachycardia, Fluctuating blood pressure]

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25
What are the investigations for Carcinoid syndrome?
24hr urine collection (Check 5-HIAA levels) Blood (Plasma chromogranin A and B, Octreoscan, fasting gut hormones) CT/MRI scan (Localise tumour) Radioisotope scan (Radiolabelled somatostatin analogue (octreotide) localises the tumour) Investigations for MEN-1 Echo and BNP investigates carcinoid heart disease
26
What is Cushing's syndrome?
Clinical manifestation of pathological hypercortisolism from any cause.
27
What is caused by Cushing's syndrome?
Exogenous corticosteroid exposure is most common cause of cushing's syndrome Majority caused by ACTH-secreting pituitary adenomas 10-15% of pituitary tumours secrete ACTH New gene ubiquitin-specific protease 8, mutated in Cushing's disease Adrenal overproduction of cortisol in 30-40% of carcinomas, resulting in ACTH-independent cushing syndrome
28
What are the Risk Factors for Cushing's syndrome?
``` Exogenous corticosteroid use Female 20-45 Pituitary adenoma Adrenal adenoma Adrenal carcinoma Neuroendocrin tumours Thoracic or bronchogenic carcinoma ```
29
What are the signs and symptoms of Cushing's syndrome?
``` Truncal obesity Buffalo hump Supraclavicular fat pads Weight gain Facial fullness Moon facies Facial plethora Proximal muscle wasting and weakness Diabetes or impaired glucose tolerance Skin atrophy Purple striae Easy bruising Hirsutism Acne Pigmentation Oedema ```
30
What are the investigations for Cushing's syndrome?
Pregnancy test (Negative) Serum Glucose (Raised) Late-night salivary cortisol (Raised) 1mg overnight dexamethasone suppression test (morning cortisol >50) 24-hour urinary free cortisol (>50) 48-hour 2mg dexamethasone suppression test
31
How do you manage Cushing's syndrome?
``` Tumour resection (Trans-sphenoidal microsurgery or Bilateral adrenelectomy) Medications for those who are unfit for surgery or with an unknown tumours ```
32
What medications are used for Cushing's syndrome?
Drugs (Metyrapone, Ketoconaxole and mitotane) | Pituitary radiotherapy
33
What are the complications of Cushing's syndrome?
Adrenal insufficiency secondary to adrenal suppression CVS Disease HTN DIabetes mellitus OSteoporisus Nephrolithiasis Nelson's syndrome Treatment- related central hypothyroidism/GH deficiencies Treatment related adrenal insufficiency/hypogonadism/DI
34
What is Cushing's disease?
Cushing's syndrome caused by a pituitary adenoma specifically
35
What is Diabetes Insipidus?
Diabetes insipidus is caused by hyposecretion of, or insensitivity to the effects of ADH aka AVP. Its failure to act causes an inability to concentrate urine in the distal renal tubule, leading to passage of a lot of urine Passes >3 litres of urine in 24hrs with low osmolality (<300mOsml/kg)
36
What are the 2 major forms of Diabetes insipidus?
Cranial | Nephrogenic
37
What is Cranial DI?
Decreased ADH secretion, reducing the ability to concentrate urine and so causes polyuria and polydipsia
38
What is Nephrogenic DI?
Decreased ability to concentrate urine because of resistance to ADH in the Kidney
39
What are the 2 other forms of DI?
Gestational | Primary polydipsia
40
What is Gestational DI?
Degaradtion of Vasopressin by a placental vasopressinase. associated with increased complications of pregnancy
41
What is primary polydispia?
AKA Dipsogenic DI - caused by a primary defect in osmoregulation of thirst. Reported in TB meningitis, MS and Neurosarcoidosis
42
What causes cranial DI?
Acquired - Idiopathic - Tumours - Intracranial surgery - Head injury - Granulomata (sarcoidosis, TB, Wegner's granulomatosis) - Infections (Encephalitis, Meningitis, cerebral abscess) - Vascular disorders (Haemorrhage/thrombosis, aneurysms, SCD, sheehan's syndrome) - Post Radiotherapy Inherited - Autosomal recessive (Wolfram's syndrome) - AD mutations of vasopressin gene
43
What causes Nephrogenic DI?
``` Acquired - Idiopathic - Hypokalaemia - Hypercalcaemia - CKD - Other metabolic derangements - Drugs (Ofloxacin, orlistat, lithium) - Renal tubular acidosis - Pregnancy - Post obstructive uropathy Congenital/genetic nephrogenic DI - X linked mutations in V2 ADH-receptor gene - Autosomal recessive defect in aquaporin 2 (AQP2) gene - water channel in distal renal tubule - Sporadic nephrogenic DI with general learing disability and intracerebral calcificaiton (very rare) ```
44
What are the risk factors for Diabetes insipidus?
``` Pituitary surgery Craniopharyngioma Pituitary stalk lesions Traumatic brain injury Congenital pituitary abnormalities Medication AI disease Family history/genetic mutations Pregnancy Subarachnoid haemorrhage Renal sarcoidosis/amyloidosis Hypercalcaemia or hypokalaemia Release of obstructive uropathy Previous CNS infection ```
45
What are the symptoms of Diabetes insipidus?
``` Polyuria Nocturia Polydipsia In children: Enuresis (bed wetting), Sleep disturbance Sensorineural deafness and visual failure Visual field defects Motor deficits Skin lesions ```
46
What are the signs of Diabetes Insipidus?
Urine output >3L/day Fluid intake < fluid output, signs of dehydration (tachycardia, reduced tissue trigor, postural hypotension) Signs related to teh cause
47
What are the investigations for Diabetes Insipidus?
Plasma glucose U&Es Urine specific gravity Simultaneous plasma and urine osmolality MRI of pituitary, hypothalamus and surrounding tissues, including the pineal gland Fluid deprivation test with response to desmopressin!
48
What results are seen in the fluid deprivation test?
Normally: - Increased plasma osmolality - Increased ADH secretion - Increased water reabsorption - Increase in urine osmolality (Urine >600 mosmol/kg) In psychogenic polydipsia: - Urine osmolality is slightly lower than a normal person In Diabetes insipidus: - Lack of ADH means that urine cannot be concentrated - Urine osmolality is LOW (<400 mosmol/kg) Cranial - urine osmolality rises >50% following administration of desmopressin; Nephrogenic has a rise of <45% after desmopressin
49
What is the management of Diabetes insipidus?
Treat Cause! Cranial DI - MRI to find cause, give desmopressin, if mild: chlorpropamide/carbamezapine to potentiate residual effects of any residual vasopressin Nephrogenic diabetes insipidus - Sodium and/or protein restriction helps with polyuria, thiazide diuretics e.g. bendroflumethiazide
50
What are the complications of DI?
Desmopressin worsens MI in susceptible patients, may be a need for nitrates/other anginal methods Need careful management of fluid balance and therapy following surgery Patients with genetic causes of Nephrogenic DI are prone to bladder dysfunction and hydroureter/hydronephrosis Hypernatraemic dehydration Thrombosis Bladder and Renal dysfunction Iatrogenic hyponatraemia
51
What is Diabetes Mellitus?
Lack of effective endogenous insulin Leading to serious microvascular (Retinopathy, Neuropathy and Nephropathy) or Macrovascular (stroke, renovascular disease, limb ischaemia, heart disease) problems
52
What is Type 1 diabetes mellitus?
``` Immune destruction of the pancreas Insulin dependent diabetes Usually young Diabetic ketoacidosis Quite high glucose ```
53
What is Type 2 diabetes mellitus?
``` Resistance to action of insulin Non-insulin dependent diabetes Maturity onset diabetes (30-70 years old) Often overweight Very high glucose ```
54
What is the cause of T1DM?
Destruction of pancreatic beta cells AI process Associated with other AI conditions 90% carry HLA DR3 +/- DR4 Latent autoimmune diabetes of adults is a form of T1DM with slower progression to insulin dependence T1DM prone to ketoacidosis have sufficient insulin to suppress ketone body Auto antigens: GAD, Insulin, Insulinoma-associated protein 2, Cation efflux zinc transporter
55
What are the risk factors for T1DM
Geographical region Genetic predisposition Infectious agents Dietary factors
56
What are the symptoms of T1DM?
``` Polyuria Nocturia Tiredness Weight loss DKA symptoms ( Caused by: Surgery, UTI, MI, pancreatitis, chemo, psychotics, wrong dose) - Drowsiness - Confusion - Kussmaul breathing - Ketotic breath ```
57
What are the signs of T1DM?
Diabetic retinopathy Neuropathy Monitor BP Associated with AI conditions: Vitiligo, Addison's disease, AI thyroid disease
58
What are the investigations for Diabetes mellitus?
``` Urinalysis > Random glucose (>7.1) > Fasting glucose (>11.1) > OGTT > HbA1c U&Es - Nephropathy and hyperkalaemia Lipid profile Urine A:CR - detect microalbuminaemia Urine - glycosuria, ketonuria, MSU ```
59
What investigations are done for Ketoacidosis?
Capillary blood glucose > Urine dipstick > ABG (metabolic acidosis)> Plasma osmolality FBC (leucocytosis) Fasting C-peptide (Low) AI markers (Positive)
60
What is the management of T1DM?
Patient education - Short acting insulin 3x daily or long acting insulin once daily Insulin pumps Monitor: Capillary blood glucose, HbA1c every 3-6 months. Screen and manage complications
61
How do you manage DKA?
``` If Systolic BP <90 give 500ml saline 50U soluble insulin Continue untill: Ketones <0.3 Venous pH >7.30 Venous bicarbonate >18 Potassium replacement Thromboprophylaxis Broad spectrum ABx ```
62
What are the complications of T1DM?
``` Diabetic Ketoacidosis Hypoglycaemia Retinopathy Diabetic kidney disease Peripheral or autonomic neuropathy Cardiovascular disease ```
63
What are the macrovascular complications of T1DM?
Retinopathy Neuropathy Nephropathy
64
What are the complications of T1DM treatment?
``` Weight gain Fat hypertrophy at insulin injection sites Hypoglycemia - Personality changes - Fits - Confusion - Coma - Pallor ```
65
What is T2DM?
Increased peripheral resistance to insulin action, impaired insulin secretion and increased hepatic glucose output. Associated with Obesity, lack of exercise, calorie and alcohol excess
66
What causes T2DM?
``` Genetic predisposition characterised by insulin resistance Causes: Obesity Genetics Pancreatic disease Endocrine disease Drugs Circulating autoantibodies ```
67
What are the Risk factors for T2DM?
``` Metabolic syndrome Obesity Asian ethnicity TB drugs SSRIs Pregnancy Acromegaly Renal failure Cystic fibrosis PCOS Werner's syndrome ```
68
What are the symptoms of T2DM?
May be incidental Polyuria Polydipsia Tiredness Present with hyperosmolar hyperglycaemic state Infections Assess cardiovascular RFs (HTN, Hyperlipidaemia, Smoking)
69
What are the signs of T2DM?
``` Calculate BMI Waist circumference Blood pressure Diabetic foot (Dry skin, reduced SC tissue, Ulcerations, Gangrene, Charcot's arthropathy, Weak foot pulses) Skin changes - Necrobiosis lipoidica diabeticorum - Granuloma annulare - Diabetic dermopathy ```
70
What are the investigations for T2DM?
Urinalysis > Random glucose > Fasting glucose > OGTT > HbA1c Diagnosed with: Plasma glucose (>7.1), Plasma glucose (>11.1) Monitor: HbA1c, U&Es, Lipid profile, eGFR,Urine A:CR Ankle-brachial index (= 0.9)
71
What is the management of T2DM?
Glycaemic control Initial: - Lifestyle advice (smoking cessation, diet, exercise) - Metformin [a Biguanide] increases insulin sensitivity HbA1c >53 add sulphonylurea [gliclazide] HbA1c >57 at 6 months consider: Insulin, Glitazone, sulphonylurea, GLP analogues and DPP4 inhibitors, A-glucosidase inhibitors) Screen for complications, pregnancy, hyperosmolar hyperglycaemic state
72
What are the complications of T2DM?
``` Diabetic kidney disease Impaired vision Lower extremity amputation Cardiovascular disease Congestive heart failure Stroke Infection Peridontal disease Treatment-related hypoglycaemia Depression Obstructive sleep apnoea Diabetic ketoacidosis Non-ketotic hyperosmolar state Autonomic or peripheral neuropathy ```
73
What is Diabetic Ketoacidosis?
Medical emergency with a significant morbidity and mortality | Characterised by hyperglycaemia, acidosis and ketonaemia
74
What are the precipitating conditions?
Infection Discontinuation of insulin Inadequate insulin CVS disease Drug treatments (Steroids, thiazide-like diuretics or SGLT2 inhibitors) Menstruation Physiological stress (pregnancy, trauma and/or stress)
75
What is Graves' disease?
AI thyroid condition associated with hyperthyroidism. Associated orbitopathy occurs in 25% of cases and is usually mild
76
What causes Graves' disease?
AI condition, caused by TSH receptor antibodies | 80% genetic, 20% environmental
77
What are the Risk Factors for Graves' disease?
``` Family history of AI thyroid disease Female sex Tobacco use High iodine uptake Lithium therapy Biological agent and cytokine therapies Radiation Radioiodinetherapy for benign nodular goitres Stress ```
78
What are the signs and symptoms of Graves' disease?
``` Heat intolerance Sweating Palmar erythema Weight loss Palpitations Tremor Tachycardia (may be AF) Urticaria/pruritis Diffuse goitre Orbitopathy Lid lag Pretibial myxoedema Proptosis Onycholysis (detachment of nail from nail bed) ```
79
What are the investigations for Graves' disease?
TSH (suppressed/low) Serum free or total T4 (Raised) Serum free or total T3 (elevated) Total T3/T4 or fT4/fT3 (high compared to thyroiditis)
80
What is Hyperparathyroidism?
An endocrine disorder in which autonomous overproduction of PTH results in derangement of calcium metabolism. In approximately 80% of cases, over-producton of PTH is due to a single parathyroid adenoma, and less commonly, multi-gland involvement may occur
81
What are the types of hyperparathyroidism?
Primary Secondary Tertiary
82
What is Primary Hyperparathyroidism?
``` Parathyroid adenoma most common and familial forms are well defined May be due to external radiation - lithium therapy Familial causes (MEN1/2a), HPT-JT or familal isolated hyperparathyroidism ```
83
What are the risk factors for primary hyperparathyroidism?
``` Female sex Age >50-60 years Family history MEN (1,2a or 4) Current or history of lithium treatment HPT-JT History of head and neck irradiation ```
84
What are the signs and symptoms for Primary hyperparathyroidism?
``` History of Osteoporosis/Osteopenia Family history Nephrolithiasis Bone pain Poor sleep Fatigue Anxiety Depression Memory loss Myalgia Paraesthesia Muscle cramp Constipation Overt neuromuscular dysfunction Abdominal pain ```
85
What are the investigations for primary hyperparathyroidism?
Serum Calcium (raised) Serum intact PTH with immunoradiometric or immunochemical assay Serum ALP Serum phosphorous 24 hour urinary calcium Tc99m sestamibi scanning and ultrasonography MRI neck
86
What is the management of primary hyperparathyroidism?
``` Mild, asymptomatic disease: - Elevated calcium - 1/3 will have features of HPT -Avoid dehydration -Avoid thiazide diuretics Surgical treatment: parathyroid surgery to remove abnormal glands Surgical treatment Medical treatment ```
87
What are the guidelines for surgical treatment?
``` Age under 50 Creatinine clearance <60 Nephrolithiasis DXA of less than -2.5 Vertebral fracture ```
88
What is the medical treatment for primary hyperparathyroidism?
HRT and Raloxifene in post menopausal women | Cincalcet reduces serum Calcium and PTH levels and raises serum phosphorous
89
What are the complications for primary hyperparathyroidism?
``` Neck haematoma following surgery Recurrent and superior laryngeal nerve injury Hypocalcaemia post-surgery Pneumothorax post-surgery Osteoporosis Bone fractures Nephrolithiasis ```
90
What is Secondary hyperparathyroidism?
Most commonly in CKD Parathyroid glands become hyperplastic after long-term stimulation on response to chronic hypocalcaemia Seen in all patients with dialysis-dependent CKD Occur in any condition with chronic hypocalcaemia
91
What are the risk factors for secondary hyperparathyroidism?
``` Ageing Chronic renal failure Absence of dairy and fish Malabsorption Hepatic dysfunction Genetic disorder Obesity Medication use ```
92
What are the signs and symptoms of secondary hyperparathyroidism?
Features of chronic renal failure Features of underlying malabsorption syndrome Muscle cramps and bone pain Perioral tingling or paraesthesia in fingers or toes Chvostek's/trousseau's sign Bowed legs or knocked knees Fractures
93
What investigations are done for Secondary hyperparathyroidism?
Serum Calcium (Decreased) Serum Intact PTH (Raised) Serum creatinine (Raised) Serum Urea Nitrogen (Raised)
94
What is the management of secondary hyperparathyroidism?
Mostly medical - treat underlying conditions In CKD (calcium supplementation, correct Vit. D analogues, calchimimetics [cincalet]) Parathyroidectomy
95
What are the complications of secondary hyperparathyroidism?
Osteodystrophy Osteoporosis Uraemia Calchiphylaxis
96
What causes tertiary hyperparathyroidism?
Occurs after prolonged secondary glands become autonomous, producing excessive PTH even after cause of hypocalcaemia is corrected
97
How does tertiary hyperparathyroidism present?
Symptoms and signs are due to hypercalcaemia so can be similar to primary hyperparathyroidism
98
What investigations are done for tertiary hyperparathyroidism?
``` Serum Calcium (Raised) Serum PTH (Raised) Serum phosphate (Raised) ```
99
How do you manage tertiary hyperparathyroidism?
Cincalet Total or subtotal parathyroidectomy recommended Auto transplantation is an easily accessible site
100
What is Hypogonadism?
Female: Impairment of ovarian function Male: A syndrome of decreased testosterone production, sperm production or both
101
What are the causes of Female hypogonadism?
Primary - Gonadal dysgenesis, gonadal damage, premature ovarian failure, androgen excess Seconary - Functional, pituitary/hypothalamic tumours, Hyperprolactinaemia, Congenital GnRH deficiency, Post pill amenorrhoea
102
What are the Risk Factors for female hypogonadism?
Turner's/Kallman's T2DM Alkylating agents/opioids/glucocorticoids/ sex hormones/ GnRH analogues
103
What are the symptoms of female hypogonadism?
``` Night sweats Hot flushing Vaginal dryness Dyspareunia Decreased libido Infertility Oligo/amenorrhoea Features of Turner's: Short, cubitus valgus, poor breast development ```
104
What are the signs of female hypogonadism?
Pre-pubertal (Delayed puberty, Eunuchoid) Post-pubertal (Regression of secondary sexual characteristics, Perioral and periorbital wrinkles) Kallman's syndrome - anosmia Turner's syndrome - Short, low posterior hairline, high arched palate, widely spaced nipples, short 4th and 5th metacarpals, congenital lymphoedema) AI primary ovarian failure
105
What investigations are done for female hypogonadism?
``` Pregnancy test (Negative) Serum oestradiol (Low) Serum FSH/LH Serum prolactin TFTs Karyotype Pelvic imaging Screen for fMRI Pituitary function test Visual field testing Turner's syndrome AI oophoritis ```
106
What causes Male hypogonadism?
Primary: - Gonadal dysgenesis - Gonadal damage - Rare causes: Renal failure, liver cirrhosis or alcohol excess Secondary: - Pituitary/hypothalamic lesion - GnRH deficiency (Kallman's) - Hyperprolactinaemia - Genetic mutations - Laurenec-moon-biedl syndrome - Age - Prader-willi syndrome
107
What is Laurence-moon-biedl syndrome?
Secondary cause of hypogonadism seen by obesity, polydactyly, retinitis pigmentosa, learning difficulties)
108
What are examples of gonadal dysgenesis?
Klinefelter's syndrome | Undescended testicles
109
What are the risk factors for male hypogonadism?
``` Age Kallman's Prader willi Klinefelter's T2DM Alkylating agents Opioids Glucocorticoids Sex hormones GnRH analogues Hyperprolactinaemia ```
110
What are the symptoms of Hypogonadism?
``` Delayed puberty Decreased libido Impotence Infertility Symptoms of underlying disease: (Intellectual dysfunction [Klinefelter's]) ```
111
What are the signs of Hypogonadism?
``` Measure testicular volume using Prader's orchidometer (15-25mL) Pre-pubetal: - Signs of delayed puberty (High pitched voice, Decreased pubic hair/ small or undescended testicles/ small penis) - Gynaecomastia - Eunuchoid proportions - Features of underlying cause Postpubertal: - Decreased hair - Soft and small eyes - Gynaecomastia - Fine perioral wrinkles - Features of underlying cause (Visual defects) ```
112
What investigations are done for male hypogonadism?
``` Serum total testosterone (Low) Sex hormone binding globulin Albumin LH and FSH Karyotyping Secondary - Pituitary functions test - MRI of hypothalamus - Visual field test / smell test - Iron testing Assess bone age ```
113
In both forms of Hypogonadism (male and female), what is seen when discovering LH and FSH?
In primary: Raised In secondary: Normal/Low
114
What is Hypopiruitarism?
Partial or complete deficiency of one or more pituitary. May arise from a congenital defect during development of the pituitary gland or as a result of acquired diseases of the pituitary gland, the parasellar structure, or the hypothalamus
115
What can cause Hypopituitarism?
``` Neoplastic causes Vascular causes Inflammation and infiltrative lesions Infection Congenital Radiotherapy PItuitary surgery Other ```
116
What neoplasms cause hypopituitarism?
Pituitary adenoma Craniopharynigioma Sellar meningiomas Pituitary metastases
117
What vascular issues cause hypopituitarism?
Pituitary apoplexy Sheehan syndrome Intrastellar aneurysms
118
What inflammatory and infiltrative lesions cause hypopituitarism?
Lymphocytic hypophysitis Hypophysitis Haemochromatosis Sarcoidosis, TB and langerhans cell histiocytosis X
119
What infections | cause hypopituitarism?
Pituitary abscess formation Pituitary Tuberculomas Fungal pituitary disease occurs as a complication of aids but uncommon
120
What are the congenital causes of hypopituitarism?
Pituitary or hypothlamic origin Transcription factor defects Mutations in PROP1 cause of familial and sporadic congenital pituitary hormone deficiencies
121
What are the other (Radiotherapy, Pituitary, other) causes of Hypopituitarism?
May follow treatment with external radiation Pituitary surgery Traumatic brain injury Empty sella syndrome Hypothalamic damage from mass lesions, infections, radiation Chronic opiate use leads to deficiencies of gonadotrophin
122
What are the Risk Factors for hypopituitarism?
``` Pituitary tumour Pituitary apoplexy Pituitary surgery Cranial radiation Traumatic brain injury Genetic defects Hypothalamic disease Inflammatory disorders Empty sella syndrome Syphillis Tuberculous meningitis Severe postpartum haemorrhage (Sheehan) ```
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What are the signs and symptoms of ACTH deficiency?
Acute: Weakness, dizziness, nausea, vomiting, circulatory collapse, fever, shock Chronic: Fatigue, pallor, anorexia, weight loss Children: Delayed puberty, failure to thrive Hypoglycaemia, hypotension, anaemia, lymphocytosis, eosinophilia, hyponatraemia
124
What are the signs for TSH deficiency?
Tiredness, Cold intolerance, constipation, hair loss, dry skin, hoarseness, cognitive slowing Weight gain, bradycardia, hypotension Children: Delayed development, growth restriction and intellectual impairment
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What are the signs and symptoms of Gonadotrophin deficiency?
Women: Oligomenorrhoea, loss of libido, dyspareunia, infertility, osteoporosis Men: loss of libido, impaired sexual function, mood impairment, loss of facial, scrotal and body hair, decreased muscle mass, osteoporosis, anaemia
126
What are the signs and symptoms of Growth hormone deficiency?
Decreased muscle mass Dyslipidaemia, premature atherosclerosis Children: Growth restriction
127
What are the signs of ADH deficiency?
Polyuria Polydipsia Decreased urine osmolality Hypernatraemia
128
What may also present with features attributable to the underlying cause?
Space-occupying lesions - headaches or visual field deficits | Large lesions involving hypothalamus - polydipsia and inappropriate ADH
129
What investigations are done for hypopituitarism?
``` Pituitary functions test Dynamic tests Serum electrolytes Serum and urine osmolality MRI/CT pit Metyrapone testing of adrenal axis ```
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How do you manage hypopituitarism?
Apoplexy - IV hydrocortisone + surgery ACTH - Oral corticosteroids + IV/IM for stressful events TSH - Levothyroxine after adrenal replacement Female (with gonadotrophin-releasing hormone) - oestrogen with progesterone, if want fertility: Gonadotrophins. Males with GNRH - testosterone + gonadotrophins if want to be fertile Growth hormone - recombinant human growth hormone ADH - Desmopressin Anti-CTLA-4 Ab therapy associated hypophysitis - high dose glucocorticoids
131
What are the complications of hypopituitarism?
``` Male infertility Female infertility Corticosteroid over-replacement Thryoxine over-replacement Desmopression over-replacement Growth hormone over-replacement Testosterone over replacement ```
132
What is Hypothyroidism?
Insidious onset with significant morbidity. | Clinical features often subtle and nonspecific
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What are the three types of hypothyroidism?
Primary Secondary Transient
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What causes primary hypothyroidism?
``` AI hypothyroidism Iatrogenic Drugs Congenital defects Infiltration of the thyroid ```
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What causes secondary hypothyroidism?
Isolated TSH deficiency Hypopituitarism - neoplasm, infiltrative, infection and radiotherapy Hypothalamic disorders - neoplasm and trauma
136
What causes transient hypothyroidism?
Withdrawal of thyroid suppressive therapy Postpartum thyroiditis Subacute/chronic thyroiditis with transient hypothyroidism
137
What are the Risk factors for hypothyroidism?
``` Iodine deficiency Female sex Middle age Family history of AI thyroiditis AI disorders Graves' disease Post-partum thyroiditis Turner's and Down's Primary pulmonary hypertension MS Radiotrharpy Amiodarone, Lithium T1DM Textile workers ```
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What are the symptoms of hypothyroidism?
``` Tiredness Lethargy Cold intolerance Dry skin Hair loss Slowing of intellectual activity Constipation Decreased appetite with weight gain Deep hoarse voice Menorrhagia and later oligomenorrhia or amenorrhoea Impairedhearing due to fluid in middle ear Reduced libido ```
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What are the signs of Hypothyroidism?
Dry coarse skin, hair loss and col peripheries Puffy face, hands and feet (myxoedema) Bradycardia Delated tendon reflex relaxation Carpal tunnel syndrome Serious cavity effusions e.g. pericarditis or pleural effusion
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What are the other presentations for Hypothyroidism?
``` AKI Female sexual dysfunction Hypercholesterolaemia Can develop into myxoedema: Expressionless dull face with peri-orbital puffiness; swollen tongue, sparse hair, pale, cool skin with rough, doughy texture; enlarged heart Megacolon/intestinal obstruction Cerebellar ataxia Psychosis Encephalopathy ```
141
How does Hashimoto's and atropic thyroiditis present?
Subclinical AI thyroiditis represents early stages of chronic thyroiditis with a soft/firm thyroid gland, usually normal in size or slightly enlarged
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How does postpartum thyroiditis present?
Occurs in 5-7% within first 6 months | Most show remission but some may progress to permanent
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How does subacute thyroiditis?
Referred to as granulomatous, giant cell or de quervian's thyroiditis Viral infection produces local symptoms and exquisite tenderness of the thyroid gland with nodularity
144
What investigations cause hypothyroidism?
``` Serum TSH - elevated Free serum T4 - low Serum cholesterol - often raised FBC - anaemia Fasting blood glucose - elevated Serum CK - may be raised Serum sodium - may be decresed Antithyroid peroxidase antibodies - may be elevated ```
145
How do you treat clinical hypothyroidism?
Levothyroxine and maybe liothyronine For some, it starts at 25 micrograms daily up by 25 every 4 weeks - including: Cardiac disease, severe hypothyroidism, over 50 years old Drugs e.g. ferrous sulphate, calcium supplemets, rifampicin and amiodarone interfere with T4 absorption
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How do you treat subclinical hypothyroidism?
Occurs when a patient has TSH over normal but T4 in normal range TSH > 10 benefits from levothyroxine Treat those with a history of radio-iodine treatment or positive thyroid
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How do you treat hypothyroidism in special groups ?(Children, pregnancy, older patients with comorbidity, myxoedema coma)
Children - Levothyroxine can cause pseudotumour cerebri in children Pregnancy - Wait untill euthyroid to be pregnant Measure TFT during first, second and third trimester Older patients - Start at 25 and up in 25mg segments every 4 weeks Myxoedema coma - elderly patients, presents with reduced consciousness, seizures, hypothermia, features of hypothyroidism
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What are complications of hypothyroidism?
``` Angina Resistant hypothyroidism Atrial fibrillation Osteoporosis Myxoedema coma Complications in pregnancy ```
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What is Multiple endocrine neoplasia?
An AD condition characterised by a predilection to develop tumours of endocrine glands. They are functioning hormone producing tumours in multiple organs.
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What are the types of MEN?
MEN 1 - Pituitary adenomas - Parathyroid tumours - Pancreatic islet-cell tumours - Fascial anglofibromas and collagenomas MEN 2a - Parathyroid tumours - Medullary thyroid cancers - Phaeochromocytoma MEN 2b - Same as Men 2a with: marfanoid appearance, neuromas of the GI tract
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What are the signs and symptoms of MEN1?
Age of onset of tumours is teenage years Diagnosis in 4th decade of life Symptoms and signs depend on organs affected! Pituitary tumours may cause visual defects
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What symptoms and signs are seen in different MEN1 tumours?
Parathyroid tumours - Hyperparathyroidism - Hypercalcaemia + Nephrolithiasis Hypergastrinaemia - Zollinger-Ellison syndrome (gastrin secretion) Hyperinsulinaemia - cancer of pancreatic islet cells Hyperprolactinaemia Hypersomatotrophinaemia
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What are the signs and symptoms of MEN2?
Medullary thyroid cancer - HTN, Episodic sweating, Diarrhoea, pruritic skin lesions, lump in neck Hypercalcaemia - renal stones, abdominal moans and psychic groans (Constipation, polyuria/polydipsia, depression, kidney stones, fatigue)
154
What are the investigations for MEN1?
Screening first or second degree relatives Hormone hypersecretion blood tests DNA testing
155
What are the investigations for MEN2?
Phaeochromocytoma test - 24hr urine metanephrines (followed by abdominal MRI) Medullary thyroid cancer test - elevated calcitonin conc.. Parathyroid tumours - simultaneously elevated Ca2+ and PTH
156
What is Obesity?
``` A BMI >30 OR defined as waist circumference - Men - Low risk = <94cm - Very high risk = >102cm - Women - Low risk = <80cm - Very high risk = >88cm ```
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What are the causes for Obesity?
There are genetic factors that affect the risk of becoming obese There are a few monogenomic forms of obesity (e.g. Leptin deficiency, prader-willi syndrome)
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What are the signs and symptoms of Obesity?
Noticing that you are gaining weight Symptoms of complications: T2DM, CHD, Obstructive sleep apnoea High body weight, BMI, waist circumference
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What are the investigations for obesity?
``` Measure serum lipids Measure HbA1c Hormone profile check TFTs - hypothyroidism can cause obesity Other investigations depend on comorbidities ```
160
What is Osteomalacia?
Disorder of mineralisation of bone matrix (Osteoid). There is normal bone but its mineral content is low
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What causes Osteomalacia?
``` Vitamin D deficiency - Lack of exposure to sunlight - Dietary deficiency - Malabsorption - Decreased Hydroxy vit-D - Decrased 1alpha hydroxy vit D Renal osteodystrophy Drug-induced - anti-convulsants Renal phosphate wasting Fanconi syndrome (phosphaturia, glycosuria, aminoaciduria) Renal tubular acidosis Hereditary hypophosphataemic rickets Tumour induced osteomalacia ```
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What are the Risk Factors for Osteomalacia?
``` Dietary calcium and Vitamin deficiency Chronic kidney disease Limited sunlight exposure Inherited disorders Hypophosphaturia Anticonvulsant therapy Mesenchymal tumours Fanconi's syndrome Pregnancy Obeisty Poverty Alcoholism Living in countries at high latitude ```
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What are the symptoms of Osteomalacia?
Osteomalacia - Bone pain - Fractures, especially femoral neck - Proximal myopathy - waddling gait - Weakness - Malaise
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What are the symptoms for Rickets?
Rickets - Hypotonia - Growth retardation - Skeletal deformities - Knock-kneed, bow legged
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What are the signs for Osteomalacia?
Bone tenderness Proximal muscle weakness Waddling gait Sign of hypocalcaemia (Trousseau's sign, chvostek's sign)
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What are the signs for Rickets?
``` Bossing of frontal and parietal bones Swelling of costochondral junctions Bow legs in early childhood Knock knees in later childhood Short stature ```
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What are the investigations for Osteomalacia?
``` Serum calcium level (Low) Serum 25-hydroxy-vit D (Low) Serum Phosphate level (Low) Serum urea and creatinine (Ratio elevated) Intact PTH (High) Serum ALP (High) 24-hour urinary calcium (Low) ```
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What is the management of osteomalacia?
Vitamin D and calcium replacement In malabsorption/hepatic disease: Give Vit D2 (ergocalciferol) In renal disease or vitamin D resistance give alfacalcidol Monitor 24hr urinary calcium and weekly plasma calcium Also monitor: Serum calcium, phosphate, ALP, PTH, Vitamin D Treat underlying cause!
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What are the complications of Osteomalacia/rickets?
Insufficiency fractures or pseudofractures Secondary hyperparathyroidism Metastatic calcification in renal failure Hypercalcaemia Hypercalciuria and kidney disease
170
What is Osteoporosis?
Reduced bone density (-2.5 on DEXA) resulting in bone fragility and increased fracture risk. This is reduced bone mass
171
If trabecular bone affected what types of fractures are common?
Crush fractures of vertebrae (hence littleness and dowagers humps of old women)
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If cortical bone is affected, what type of fractures are common?
Long bone fracture more likely
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What causes Osteoporosis?
``` Primary - Idiopathic - Post-menopausal Secondary - Malignancy - Endocrine (Cushing's disease, thyrotoxicosis, primary hyperparathyroidism, hypogonadism) - Drugs - corticosteroids, heparin - Rheumatalogical - Gastrointestinal (Malabsorption, liver disease, anorexia) ```
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What are the Risk factors for Osteoporosis?
SHATTERED + L ``` S - Steroid use H - Hyperparathyroidism, hyperthyroidism, hypercalciuria A - Alcohol and tobacco use T - Thin (BMI <22) T - Testosterone low E - Early menopause R - Renal or liver failure E - Erosive/inflammatory bone disease D - Dietary calcium + L - Low/malabsorption ```
175
What are the symptoms of Osteoporosis?
``` Often asymptomatic until fractures occur Characteristic features: - Neck of femur (after minimal trauma) - Vertebral fractures (leading to loss of height, stooped posture) - Colles' fracture ```
176
What are the signs of osteoporosis?
Often NO signs until complications develop - Tenderness on percussion - Thoracic kyphosis - Severe pain when hip flexed and externally rotated
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What are the investigations for osteoporosis?
``` Calcium (Normal in primary) Phosphate (Normal in primary) ALP (Normal in primary) X-ray diagnosign fractures Isotope bone scan DEXA scan ```
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On a DEXA scan what does the T score indicate?
T >-1 is normal T -1> or >-2.5 is osteopenia T
179
What is Paget's disease of the bone?
Characterised by excessive bone remodelling at one (monostotic) or more (polyostotic) sites resulting in bone that is structurally disorganised Increased bone turnover with increased number of osteoblases and osteoclasts with resultant remodelling, bone enlargement, deformity and weakness
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What causes Paget's disease of the bone?
Unknown Genetic factors and viral infection Excessive bone resorption by abnormally large osteoclasts followed by increased bone formation by osteblasts in a disorganised fashion Results in an abnormal pattern of lamellar bone Marrow spaces filled by an excess of fibrous tissue with a marked increase in blood vessels
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What are the Risk factors for Paget's disease of the bone?
``` Family history Age > 50 years Male sex (45-74 years) Infection Environmental factors ```
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What are the symptoms of Paget's disease of the bone?
``` Asymptomatic Present with insidious onset pain, aggravated by weight bearing and movement Headaches Deafness Increasing skull size Fractures ```
183
What are the signs of Paget's disease of the bone?
Bitemporal skull enlargement with frontal bossing Spinal kyphosis Anterolateral bowing of femur, tibia or forearm Skin over affected bone may be warm Sensorineural deafness
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What investigations are done for Paget's disease of the bone?
Very high ALP Ca2+ and phosphate - normal Bone radiographs (enlarged, deformed bones), lytic and sclerotic appearance, lack of distinction between cortex and Medulla Skull changes (Osteoporosis circumscripta, enlargement of frontal and occipital areas, cotton wool appearance) Bone scan (assess extent of skeletal involvement, pagetic bone lesions) Resorption markers (monitor disease activity)
185
What is a Phaeochromocytoma?
Tumour arising from catecholamine-producing chromaffin cells of the adrenal medulla. Occasionally extra adrenal (Phaeochromocytomas or paragangliomas)
186
What are the causes for Phaeochromocytoma?
90% in adrenal medullary catecholamine-producing chromaffin cells 5-10% are multiple May be sporadic, 40% are hereditary in adults and up to 40% in children MEN 2A, 2B, von hippel-lindau syndrome
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What are the Risk factors for Phaeochromocytoma?
MEN 2A/2B Von Hippel-Lindau Succinate dehydrogenase Neurofibromatosis type 1
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What are the signs and symptoms of Phaeochromocytoma?
``` Headache Palpitations Diaphoresis Hypertension Hypertensive retinopathy Pallor Impaired glucose tolerance/diabetes mellitus Family history of endocrine disorders Orthostatic hypotension Hypercalcaemia Cushing syndrome Diarrhoea Fever Papilloedema Abdominal masses ```
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What are the investigations for phaeochromocytoma?
24-hour urine collection (Raised catecholamines, normetanephrines and creatinine) Plasma catecholamines (elevated) Genetic testing (familial disorders) Complete blood count (Eryhtrocytes) Serum calcium (elevated) Serum potassium (Low) MRI of abdomen and pelvis (hyper-intense to liver) CTAP (masses, cenral area of low attenuation)
190
What is a non-functioning pituitary tumour?
Benign tumours of the pituitary gland formed from pituitary cells that do not produce any active pituitary hormones The adenomas can be classes as microadenomas (<1cm) or macroadenomas (>1cm)
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What are the histological classifications of pituitary tumours?
Chromophobe (70%) - most non-secretory, some cause hypopituitarism, 50% produce prolactin Acidophil (15%) - secrete GH or prolactin Basophil (15%) - secrete ACTH
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What are the causes of Pituitary tumours?
No specific cause Cause symptoms due to local pressure effect Can occur as part of MEN 1 syndrome
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What are the Risk Factors for Pituity tumours (non-functioning)?
MEN 1 Familial isolated pituitary adenomas Can occur as part of MEN 1 syndrome
194
What are the signs and symptoms of non-functioning pituiary tumours?
``` Develop VERY SLOWLY Headaches Pressure on surrounding structures: - Optic chiasm - Bitemporal hemianopia) - Cavernous sinus - Palsy CN III, IV, VI - Normal pituitary gland - Panhypopituitarism ```
195
What are the investigations for non-functioning pituitary tumours?
MRI CT Bloods - check hormone levels Visual field testing
196
What is PCOS?
Hormonal disorder characterised by oligomenorrhoea/amenorrhoea and hyperandrogenism (clinical or biochemical) Frequently associated with: Obesity, Insulin resistance, T2DM, Dyslipidaemia
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What is the cause of PCOS?
Environmental and genetic factors Hyperinsulinaemia results in increased ovarian androgen synthesis and reduced hepatic sex hormone binding globulin Leads to an increase in free androgens (Which gives rise to the symptoms)
198
What are the Risk factors for PCOS?
``` Family history of PCOS Premature adrenarche Low birth weight Fetal androgen exposure Environmental endocrine disruptors ```
199
What are the symptoms of PCOS?
Menstrual irregularities Dysfunctional uterine bleeding Infertility Hyperandrogenism: Hirsutism, Male-pattern hair loss, acne
200
What are the signs of PCOS?
Hirsutism Male-pattern hair loss Acne Acanthosis nigricans (signs of severe insulin resistance) - velvety thickening and hyperpigmentation of skin of the axilla or neck
201
What are the investigations for PCOS?
Serum LH - High Serum LH:FSH - High High testosterone, androstenedione and DHEA-S Test for: Hyperprolactinaemia, Hypo/hyperthyroidism CAH Cushing's syndrome Look for impaired glucose tolerance
202
What are the diagnostic criteria for PCOS?
Must have atleast 2 of the following: - Amenorrhoea/Oligomenorrhoea - Clinical/biochemical signs of androgen excess (elevated free testosterone) - PCOS seen on USS
203
What is Primary hyperaldosteronism?
Aldosterone production exceeds the body's requirements and is relatively autonomous with regard to its normal chronic regulator, the renin-angiotensin II system
204
What causes primary hyperaldosteronism?
Aetiology unknown in most cases Genetic basis Excessive aldosterone levels act at the distal renal tubule, promoting sodium retention, which results in water retention and volume expansion with hypertension. There is excretion of potassium resulting in hypokalaemia
205
What are the risk factors for primary aldosteronism?
Family history of primary aldosteronism | Family history of early onset of hypertension and/or stroke
206
What are the signs and symptoms of primary aldosteronism?
``` Hypertension 20-70 years old Nocturia Polyuria Lethargy Mood disturbances (Irritability, anxiety, depression) Difficulty concenctrating Paraesthesia, muscle cramps Muscle weakness Palpitations ```
207
What are the investigations for Primary hyperaldosteronism?
``` Plasma potassium (normal or low) Aldosterone/Renin ratio (>70) ```
208
How do you manage primary hyperaldosteronism?
Unilateral: Unilateral laparoscopic adrenalectomy with preoperative aldosterone antagonists (spironolactone) and post-operatively. Bilateral: No adrenal lesions, aldosterone antagonists 2nd line: laparoscopic adrenalectomy with pre- and post- operative spironolactone Familial hyperaldosteronism type I: Glucocorticoids > Aldosterone antagonists Children: Amiloride > eplenerone
209
What are the complications of Primary hyperaldosteronism?
``` Peioperative complications Stroke Myocardial infarction Heart failure Atrial fibrillation Impaired renal function Aldosterone antagonist or mineralocorticoid receptor antagonist-induced hyperkalaemia ```
210
What is a prolactinoma?
Benign lactotroph adenomas expressing and secreting prolactin
211
What causes a prolactinoma?
Different types of prolactinoma: - Microadenoma - Macroadenoma - Giant pituitary adenomas - Malignant prolactinoma
212
What are the risk factors for prolactinoma?
Female gender (20-50) Genetic predisposition Oestrogen therapy Male gender (30-60)
213
What are the symptoms for Prolactinoma?
``` Amenorrhoea or Oligomenorrhoea Galactorrhoea Loss of libido Erectile dysfunction Visual deterioration (e.g. bitemporal hemianopia) Headaches Dry Vagina Reduced beard growth ```
214
What are the signs for prolactinoma?
``` Osteoporosis Ophthalmoplegia Infertility Hypopituitarism Cranial nerve palsies ```
215
What investigations are done for Prolactinoma?
``` Exclude pregnancy TFTs (Normal) Serum Prolactin (Raised) Pituitary MRI (Characteristic features) Visual-field exam ```
216
What managements are done for Prolactinoma in pre-menopausal women?
Asymptomatic Microprolactinomas - observe Symptomatic microprolactinomas - Dopamine agonist (Cabergoline then bromocriptine) > Combined oral contraception > Trans-sphenoidal surgery > Sellar radiotherapy Microprolactinomas who desire pregnancy or macroprolactinomas - Dopamine agonist (Cabergoline then bromocriptine)> Trans-sphenoidal surgery > Sellar radiotherapy
217
What managements are done for post-menopausal women?
Microadenomas - observations | Macroadenomas - Dopamine agonist (Cabergoline > Bromocriptine) > Trans-sphenoidal surgery > Sellar radiotherapy
218
What are the complications for Prolactinoma?
Visual field impairment Anterior pituitary failure and/or diabetes insipidus Hypopituitarism associated with radiotherapy Cabergoline-associated valvular insufficiency Pituitary apoplexy Cerebrospinal fluid leakage
219
What is SIADH?
Continuous secretion of ADH, despite the absence of normal stimuli for secretion. Plasma vasopressin concentration is inappropriate for teh existing plasma osmolarity
220
What is the cause SIADH?
Drugs (SSRI, amiodarone, carbamezapine) Pulmonary processes (Infections) Malignancy (Gastro, lung) CNS disorders: CNS infections, brain trauma Lung: Pneumonia, TB, abscess, aspergillosis Anaesthesia and postoperative state Nephrogenic SIADH or pseudo siadh caused by gain of function mutations in V2
221
What are the risk factors for SIADH?
``` Age >50 years Pulmonary condition (e.g. pneumonia) Nursing home residence Malignancy Medicine associated with SIADH induction CNS disorders Postoperative state Endurance exercise ```
222
What are the symptoms for SIADH?
``` Decreased urine volume, concentrated urine Mild hyponatraemia Headache Nausea/vomiting Muscle cramp/weakness Irritability Confusion Drowsiness Convulsions Coma ```
223
What are the signs for SIADH?
``` Mild hyponatraemia (no signs) Severe hyponatraemia (reduced reflexes, extensor plantar reflexes) Signs of underlying cause ```
224
What investigations are done for SIADH?
``` Serum Sodium (<135) Serum Osmolality (<280) Serum Urea (<3.6) Urine sodium (>40) Urine osmolality (>100) Serum cortisol (>138) CXR CT/MRI ```
225
What is the management for SIADH?
Severe symptoms IV hypertonic saline + fluid restriction, treat cause + furosemide Mild to moderate: Treat cause + fluid restriction Asymptomatic (Na+ = 125) Fluid resuscitation + treat underlying cause How do you treat ongoing SIADH? Fluid restriction + treat underlying cause > Tolvaptan > Sodium chloride > Demeclocycline
226
What are the complications of SIADH?
Central pontine myelinolysis - brain used to hyponatraemia. | Overcorrection of hyponatraemia, seizures, death and come can occur
227
What is thyroid cancer?
Malignancy arising in the thyroid gland
228
What are the types of Thyroid cancer?
``` Papillary Follicular Medullary Lymphoma Anaplastic ```
229
What are the causes of thyroid cancer?
Unknown
230
What are the risk factors for Thyroid cancer?
Childhood exposure to radiation Medullary thyroid cancers may be familial or associated with MEN 2a or 2b Lymphoma associated with Hashimoto's thyroiditis
231
What are the symptoms of Thyroid cancer?
Slow-growing neck lump Discomfort swallowin Hoarse voice
232
What are the signs of thyroid cancer?
Palpable nodules or diffuse enlargment of thyroid gland Cervical lymphadenopathy > suspect malignancy Patient is usually euthyroid!
233
What are the investigations for Thyroid cancer?
TFTs (TSH normal) Bone profile Thyroid autoantibides if hashimotos/graves Tumour markers (thyroglobulin (papillary and follicular), calcitonin (medullary)) CXR with thoracic inlet (goitres and mets) USS Radionulcide scan FNA cytology
234
What are thyroid nodules?
Abnormal growth of thyroid cells that forms a lump in the thyroid gland
235
What causes thyroid nodules?
Vast majority of thyroid nodules are benign, small proportion turn into thyroid cancer Most nodules are adenomatous and most are multiple Nodules are usually non-functioning
236
What are the risk factors for thyroid nodules?
Family history Age Women Radiation
237
What are the symptoms for Thyroid nodules?
Asymptomatic Potential pain/rarely tracheo-oesophageal compression Nodular goitre rather than smooth Single nodule more likely to be malignant
238
What are the signs for thyroid nodules?
Nodule moves when swallowing | Check for regional lymphadenopathy (consider malignancy)
239
What investigations are done for thyroid nodules?
``` TFTs (normal, can be hypo) Ultrasound FNA (Allows cytological analysis) Radionuclide isotope scanning (Checks iodine uptake) CT/MRI - detect spread ```
240
What is thyroiditis?
Inflammation of the thyroid gland
241
What causes thyroiditis?
``` Hashimoto's - AI condition De Quervian's thyroiditis - Painful dysphagia, pyrexia (Virus attacks - present hyperthyroid, once virus void, euthyroid) Post partum thyroiditis Drug-induced thyroiditis Acute or infectious thyroiditis Riedel's thyroiditis ```
242
What are the symptoms of thyroiditis?
Hypothyroidism (Fatigue, constipation, dry skin, weight gain, cold intolerance, acute or infectious thyroiditis, riedel's thyroiditis) Of rapid enlargement of the thyroid gland: - Dyspnoea - Dysphagia - Tenderness
243
What are the investigations for thyroiditis?
``` Histology: diffuse lymphocytic and plasma cell infiltration with formation of lymphoid follicles TSH - Raised Anti-TPO / Anti-thyroglobulin antibodies Thyroid ultrasound Radiomuclide isotope scanning CRP/ESR raised ```
244
What is the management of thyroiditis?
Pharmacological - Thyroid hormone replacement - oral levothyroxine sodium - Titrate dose based on patients need Surgical - Considered if large goitre causing symptoms
245
What are the complications of Thyroiditis?
Thyroid hormone over-replacement Hyperlipidaemia Hashimoto's encephalopathy Myxoedema coma