Endocrinology Flashcards

Question

Define thyroid nodule(s)

Answer 1

- Thyroid nodules are abnormal growths within the thyroid gland.

Answer 2

- Over 2500 new thyroid cancers are diagnosed each year in the UK. - 1% of all malignancies. 5% incidence in thyroid nodules - It is seen in both sexes. Approximately 70% of new diagnoses are in females. - The 5 year survival is over 90%.

Answer 3

5 year survival rate is 90%

Answer 4

- Neck lump which moves on swallowing, firm and painless - Early stages often asymptomatic Late stages - Dyspnea - Dysphagia - Hoarseness (vocal cord paresis) - Horner syndrome - Possible obstruction of the superior vena cava

Answer 5

- Exposure to ionizing radiation and genetic predisposition - Thyroid cancers also disproportionately affect women - Family history

Answer 6

- Ultrasound (grade U1-4) - Fine needle aspirate (U3+ or high risk pt) - Synctography - Uptake scan showing cold nodules (FDG-PET) - Laryngoscopy - TSH - Calcitonin (medullary) - CT (lymph node imaging and retrosternal extent)

Answer 7

Benign thyroid nodules (∼ 95% of cases) - Thyroid adenomas - Follicular adenoma (most common) - Hürthle cell adenoma - Toxic adenoma - Papillary adenoma (least common) - Thyroid cysts - Dominant nodules of multinodular goiters - Hashimoto thyroiditis Malignant thyroid nodules (∼ 5% of cases) - Thyroid carcinoma - Thyroid lymphoma - Metastatic cancer from breast/renal carcinoma (rare)

Answer 8

- Males more than females - Incidence: increases with age (30-50% in over 55s) - Geographic distribution: most common in inland regions without iodine fortification programs, where iodine content in food and water is low

Answer 9

Usually asymptomatic, with often a palpable lump in the neck that moves on swallowing but not when sticking out tongue Severe causes can cause: - Goiter. - Pain at the base of your neck. - Dysphagia - Dyspnoea - Hoarse voice.

Answer 10

- TSH blood test and free T4 if abnormal - Radioiodide uptake test - Ultrasound - Fine needle aspirate

Answer 11

- Hyperthyroidism is a biochemical diagnosis which occurs when there is pathologically increased thyroid hormone production and secretion by the thyroid gland - Graves disease is autoimmune condition against the thyroid. Type 2 hypersensitivity reaction. Antithyroid peroxidase

Answer 12

- Women are more likely to develop Graves' disease. - Family history - Current smokers have a three-fold increased risk of developing Graves' orbitopathy compared with non-smokers. - If a person has Graves' disease, the most significant modifiable risk factor for developing Graves' orbitopathy is smoking - Autoimmune disease — co-existent autoimmune conditions are a risk factor for developing Graves' orbitopathy, hyperthyroidism, and postpartum thyroiditis

Answer 13

- Autoimmune hyperthyroidism (Graves' disease) is the most common form, accounting for 60 to 80% of cases. - Thyrotoxicosis is a common endocrine disorder with a prevalence of around 2% in UK women and 0.2% in men.

Answer 14

- Rapid-onset malaise, fever, and thyroid pain - Agitation, emotional lability, insomnia, irritability, anxiety, palpitations. - Exercise intolerance, fatigue, muscle weakness. - Heat intolerance, increased sweating. - Increased appetite with unintentional weight loss, diarrhoea. - Subfertility, oligomenorrhoea, amenorrhoea. - Polyuria, thirst, generalized itch. - Reduced libido, gynaecomastia in men.

Answer 15

- Agitation, fine tremor, warm moist skin, palmar erythema. - Sinus tachycardia, atrial fibrillation, heart failure, pretibial myxoedema (non-pitting, due to glycosaminoglycans, bilateral) - In Graves' disease, the thyroid gland is usually diffusely symmetrically enlarged without nodules, and there may be a bruit. - Pruritus, urticaria, vitiligo, diffuse alopecia. - Muscle wasting, proximal myopathy, hyper-reflexia. - Splenomegaly, lymphadenopathy. - Gynaecomastia in men. - Thyroid acropachy (clubbing and swelling of the distal fingers and toes). - Thyroid dermopathy (slightly pigmented thickened skin and swelling of both legs, usually in the pretibial area) - Graves opthalmology (Eyelid retraction -sclera is visible above the superior corneal limbus), Lid lag, Proptosis (exophthalmos, eyeball protrusion, an inability to fully close the eyes as the upper and lower lids do not fully appose).)

Answer 16

- History and signs - Measure TSH, free T3 and T4 - TSH receptor antibodies (antithyroid peroxidase is les specific, can be raised by many things) - LFTs and FBCs before starting antithyroid drugs - Diffuse increased uptake on NM uptake scan

Answer 17

Diabetes insipidus is a condition characterised by the passage of large volumes of dilute urine (>3L) due to impaired water resorption by the kidney, because of reduced ADH secretion from the posterior pituitary (cranial DI) or impaired response of the kidney to ADH (nephrogenic DI).

Answer 18

- Polyuria – excessive urination unaffected by reduction of fluid intake. - Polydipsia – can be uncontrollable and all consuming with patients drinking anything and everything to hand. - Dehydration since the body cannot conserve much, if any, of the water it takes in. Symptoms of hypokalaemia: - Muscle weakness - Hypotonia - Hyporeflexia - Cramps - Tetany - Palpitations - Light-headedness (arrhythmias) Symptoms of hypernatraemia: - Lethargy - Thirst - Weakness - Irritability - Confusion - Coma - Fits - Signs of dehydration.

Answer 19

Cranial DI - Disease of the hypothalamus - Neurosurgery - Trauma - Primary/ secondary tumours - Infiltrative disease (sarcoidosis, histiocytosis) - Idiopathic Nephrogenic DI - Hypokalaemia - Hypercalcaemia - Drugs: lithium chloride, dimeclocycline, glibenclamide - Renal tubular acidosis - Sickle cell disease - Prolonged polyuria of any cause - Familial (mutation in ADH receptors)

Answer 20

- The combined prevalence of cranial DI and nephrogenic DI combined is estimated at 1 in 25,000. - DI can complicate up to 1 in 30,000 pregnancies. - Nephrogenic DI is the most common adverse effect of lithium and occurs in up to 40% of patients.

Answer 21

- Urine volume must be measured to confirm polyuria (>3L in 24h) - U and E: normal to high Na+. Ca2+ - Glucose (exclude DM) Measure urine and serum osmolality: - In DI, urine osmolality is inappropriately low for the high plasma osmolality. - Significant DI is excluded if urine: plasma ratio is >2:1 (as is the normal situation in health), provided plasma osmolality is no greater than 295mOsmol/kg. - In DI, despite raised plasma osmolality, urine is dilute with a U:P ratio of <2. - In primary polydipsia, there may be dilutional hyponatraemia. - Diagnose with water deprivation test. Urine remains dilute despite deprivation. Desmopressin is then given (in central urine is concentrated then, in nephrogenic it is not)

Answer 22

Cranial DI - Find the cause – MRI (head); test anterior pituitary function. - Give desmopressin, a synthetic analogue of ADH. Nephrogenic - Treat the cause. - If it persists, try bendroflumethiazide 5mg PO/24h. Thiazide diuretics sensitise the renal tubules to endogenous vasopressin. - NSAIDs lower urine volume and plasma Na+ by inhibiting prostaglandin synthase: prostaglandins locally inhibit the action of ADH. - Treatment of the cause usually does improve nephrogenic diabetes insipidus. Emergency management - Do urgent plasma UandE, and serum and urine osmolalities. - Monitor U/O carefully and check U and E twice daily initially. - IVI to keep up with U/O. If severe hypernatraemia, do not lower Na+ rapidly as this may cause central oedema and brain injury. If Na+ is >170, use 0.9% saline initially – this contains 150mmol/L of sodium. Aim to reduce Na+ at a rate of <12mmol/L per day. Use of 0.45% saline can be dangerous. - Desmopressin 2ug IM (lasts 12-24h) may be used as a therapeutic trial.

Answer 23

- Dehydration | - Hypotension (syncope, renal failure, brain damage)

Answer 24

- Usually, cranial affects people for life as treatment of cause does not remove insipidus - Nephrogenic usually cured by treatment of cause (eg. stop medication)

Answer 25

The term Cushing’s syndrome is used to describe state of excess free circulating glucocorticoid (cortisol). - Administered ACTH or glucocorticoid. - Excessive ACTH from the pituitary gland (cushings disease - pituitary adenoma) - ACTH producing tumours (e.g. from lung cancer) - Adrenal tumours (non-ACTH dependent pathway)

Answer 26

- The incidence of spontaneous Cushing’s syndrome is 10 per 1,000,000 per year - Peak incidence is between age of 25 and 40 – when associated with an adrenal or pituitary tumour - ACTH dependent 80% due to pituitary adenomas, 20% due to small cell lung ca, or carcinoid tumours, or any other endocrine tumour - ACTH independent Adrenal adenoma – 60%, Adrenal carcinoma – 40%

Answer 27

- Female (F:M 5:1) - Diabetes – especially if poor glycemic control - Prevalence fo 2-5% amongst patients with T2DM - Obesity - Oral corticosteroids

Answer 28

- Weight gain - Change of appearance - Depression - Insomnia - Amenorrhoea / oligomenorrhoea - Poor libido - Thin skin / easy bruising - Hair growth - Acne - Slow growth in children - Back pain - Reduced libido - Polyuria - Dyspepsia

Answer 29

- “Moon face” - Frontal balding (female) - Pigmentation - Skin infections - Hypertension - Osteoporosis / osteopenia - Pathological fractures – particularly vertebrae and ribs - “Buffalo hump” – a dorsal fat pad - Kyphosis – hunch back - Striae – stretch marks – can be purple or red- occur mainly on the abdomen - Supraclavicular fat pads - Oedema - Proximal myopathy - Glycosuria - Diabetes / impaired glucose tolerance

Answer 30

- 48hr low dose dexamethasone suppression test (suppresses cortisol in normal patients, not in patients with ACTH dependent cushings - also called overnight dex given at night then measure cortisol in morning) - 24 hour urinary free cortisol measurements (measure complete urine over 24 hours and look for cortisol) - In hospital, take blood at 9am and midnight. Should be significantly lower at midnight - Very low ACTH suggests adrenal tumour - Measure plasma ACTH and cortisol - MRI, CT (pituitary/adrenal adenoma or carcinoma), chest X ray for lung tumour - High dose dexamethasone suppression test (lack of suppression adrenal tumour or ectopic ACTH, however 25% chance it is incorrect, used in identification of the cause of Cushings syndrome) - Inferior petrosal sinus sampling measures ACTH levels from the veins that drain the pituitary

Answer 31

- MI - Hypertension - Infection - Heart failure - Osteoporosis - Diabetes

Answer 32

- Surgery or radiotherapy - Controlled initially medically with metyraprone (11b hydroxylase antagonist) or ketoconazole (Cyp450 blocker) - Cushings disease transsphenoidal removal of tumour, irradiation or as last resort bilateral adrenalectomy

Answer 33

- Poor if untreated | - Adrenal carcinoma 5 year survival 30%

Answer 34

- Polycystic ovary syndrome (PCOS) is a heterogeneous endocrine disorder that appears to emerge at puberty. - The clinical features may include hyperandrogenism (with the clinical manifestations of oligomenorrhoea, hirsutism, and acne), ovulation disorders, and polycystic ovarian morphology.

Answer 35

- Genetic and environmental factors - Insulin resistance and hyperinsulinaemia (resulting in reduced SHBG and increased free testosterone, increased androgen production and weight gain) - Hormonal imbalance (LH high relative to FSH increasing androgen precursors, increased oestrogen unopposed by progesterone resulting in hyperplastic endometrium) - Weight gain exacerbates symptoms

Answer 36

In adults - Infrequent or no ovulation — for example, infertility, oligomenorrhoea, or amenorrhoea. - Hyperandrogenism — for example, hirsutism and acne vulgaris occurring after adolescence. In adolescents - Signs and symptoms of hyperandrogenism (such as acne and hirsutism), and - Irregular menstrual cycles, defined as: - Normal in the first year post-menarche as part of the pubertal transition. - More than 1 year to less that 3 years of irregular cycles (more than 45 days or less than 21 days) after the onset of menarche. - More than 3 years of irregular cycles (more than 35 days or less than 21 days, or less than 8 cycles every year) post menarche to perimenopause. - More than 1 year of irregular cycles (more than 90 days for any one cycle) post menarche. - Primary amenorrhea by age 15 years or more than 3 years of irregular cycles post thelarche (breast development).

Answer 37

- Obesity - Hirsutism - Acanthosis nigricans, characterized by dry, rough skin that has grey-brown pigmentation, is palpably thickened, and is covered by a papillomatous elevation (giving it a velvety texture). The condition commonly affects the axillae, perineum, or extensor surfaces of the elbows and knuckles. When the neck is affected, there is often a thin necklace of warty fissures that can spread as a wide band.

Answer 38

Diagnosed if 2/3 not explained by other causes - Infrequent or no ovulation (usually manifested as infrequent or no menstruation). - Clinical and/or biochemical signs of hyperandrogenism (such as hirsutism, acne, or elevated levels of total or free testosterone). - Polycystic ovaries on ultrasound scan, defined as the presence of 12 or more follicles (measuring 2–9 mm in diameter) in one or both ovaries and/or increased ovarian volume (greater than 10 cm3).

Answer 39

- Measure total testosterone — this is normal to moderately elevated in women with polycystic ovary syndrome (PCOS). - Measure sex hormone-binding globulin (SHBG) — this is normal to low in women with PCOS and provides a surrogate measurement of the degree of hyperinsulinaemia. - Calculate free androgen index (100 multiplied by the total testosterone value divided by the SHBG value) to assess the amount of physiologically active testosterone present — this is normal or elevated in women with PCOS - To eliminate other causes measure LH, Prolactin (mildly elevated in PCOS), TSH - Refer adults for ultrasound scan to look for the presence of 12 or more follicles in at least one ovary (measuring 2–9 mm diameter) or increased ovarian volume (greater than 10 cm3). - Ultrasound scan should not be used for the diagnosis of PCOS in adolescents. - Exclude cushings or androgen producing tumour if hirsutism.ect

Answer 40

A neuroendocrine tumour of the medulla of the adrenal glands. It secretes large quantities of the catecholamines noradrenaline, and to a lesser extent, adrenaline.

Answer 41

- 10% familial - 10% bilateral - 10% extra-renal - 10% malignant - 1 in 100000 people in UK diagnosed anually - 0.1-0.6% patients with hypertension, 0.05% autopsy series prevalence

Answer 42

25% due to inherited condition - Multiple endocrine neoplasia type 2 (MEN 2) - Neurofibromatosis 1 (NF1) - Familial paraganglioma syndromes, which are mostly caused by changes in the succinate dehydrogenase (SDH) gene - Von Hippel Lindau disease

Answer 43

- Severe headaches - A plethora of other symptoms, including flushing, unwell, weight loss (like in hyperthyroid), panic/anxiety, sweating, pallor, hyperglycaemia, pyrexia, abdominal pain - May be worsened by TCA (if you thought it was ps-somatic), beta-blockers, IV contrast - Attacks may last less than 15 mins or up to 1 hour

Answer 44

- Severe hypertension (eg 210/100) and orthostatic hypotension, both fluctuating - Cardiac tachyarrythmias (eg SVTs) - Pallor

Answer 45

- Initial best test to rule out phaeochromocytoma: metadrenaline from blood. - Confirmed by 3x 24-hour collection of urine catecholamines. (DO URINE FIRST UNLESS SCREENING FOR HEREDITARY CAUSE) - CT abdomen - Nuclear imaging: MIBG: chrommafin-seeking isotope scan, for extra-renal tumours imaging is performed post-diagnosis purely for surgical management planning)

Answer 46

An otherwise benign adenoma of the anterior pituitary gland – which produces prolactin outside of the normal controls.

Answer 47

- Prevalence is about 0.25% - Increasing – thought to be drug related - More common in women - M:F – 1 : 3.5 - Typical age of onset 25-45

Answer 48

About half of cases are due to a pituitary adenoma - Usually a micro adenoma (<10mm diameter) – 90% of adenomas - Less commonly a macro adenoma (>10mm) – 10% of adeomas - Rarely, other types of pituitary tumour (nonfunctioning tumours) can cause hyperprolactinaemia through compression of the pituitary stalk – which decreases the flow of dopamine to the pituitary and thus reduces the dopamine suppression feedback - Multiple Endocrine Neoplasia (MEN) causes about 20% of cases of hyperprolactinaemia Drug – account for about 45% of cases - Anti-psychotics (e.h. haloperidol, risperidone) - Methyldopa - Opioids - Antidepressants including TCAs and SSRIs - Verapamil - Hypothyroidism – about 5% of cases due to increased production of TRH - Pregnancy - Nipple stimulation - Stress - Excessive exercise - In neonates (<3m old)

Answer 49

- Galactorrhoea – milk production – is the most common symptoms - Can occur in man as well as women - Often intermittent and sporadic Women may also exhibit - Amenorrhoea or oligomenorrhea Men are more likely to present with: - Headaches - Reduced libido - Erectile dysfunction - Symptoms in men tend to be more subtle and have slower onset

Answer 50

- Signs of hirsutism in women (male pattern hair growth, increased musculature) – which can make it difficult to distinguish from PCOS - Visual disturbance (bitemporal hemianopia)

Answer 51

- Pregnancy test - Prolactin level >5x normal usually required to confirm diagnosis - Usually correlate to the size of the tumour – bigger tumour = greater prolactin level - TFTs to rule out hypothyroidism as the cause - CT or MRI to confirm the presence of adenoma, MRI preferred (higher resolution than CT, the pituitary gland is small!)

Answer 52

- Patients who are asymptomatic, with prolactin levels <100ng/ml can usually be observed with repeat prolactin levels every 3 months, and repeat imaging every 12 months - Dopamine agonists are mainstay of treatment (e.g. bromocriptine 1.25 – 5 mg BD, or cabergoline 0.25 – 1mg weekly or twice weekly) - Cabergoline has been shown to be more effective than bromocriptine - Have been associated with valvular heart disease when given long-term in high doses (usually only seen in Parkisnon’s disease, because doses used in hyperprolactinaemia are lower) - Consider echocardiogram monitoring - Other side effects include psychiatric effects – such as increased impulsive behaviour, and rarely, psychosis - Consider exogenous oestrogen for women who have low estradiol levels - Dopamine agonists usually result in shrinkage of the adenoma - Treatment is required long term, but particularly for microadenomas, remission may occur if treatment is ceased. Advice is to consider a trial of treatment cessation after 3 years if prolactin levels are normal and the tumour has decreased in size. It important to continue to monitor the prolactin levels and the tumour size after cessation of treatment - Surgery considered for macroadenomas – particularly if they don’t shrink with medical therapy - Radiation therapy considered for large nonfunctioning tumours to shrink them, usually a last resort - Hypopituitarism is common – onset usually occurs several years after therapy

Answer 53

- In women, 30% of cases spontaneously resolve - In 95% of cases, tumours will not show any signs of growth after 4-6 years - Macroadenomas require more aggressive treatment

Answer 54

- Bone loss (osteoporosis). Too much prolactin can reduce production of the hormones estrogen and testosterone, resulting in decreased bone density and an increased risk of osteoporosis. - Pregnancy complications. During a normal pregnancy, the production of estrogen increases. If you are pregnant and have a large prolactinoma, these high levels of estrogen may cause tumor growth and associated signs and symptoms, such as headaches and changes in vision. - Vision loss. Left untreated, a prolactinoma may grow large enough to compress your optic nerve. This can cause a loss of peripheral vision. - Low levels of other pituitary hormones. With larger prolactinomas, pressure on the normal pituitary gland can lead to lower levels of other hormones controlled by the pituitary, including thyroid hormones and cortisol (a stress-response hormone).

Answer 55

cations + anions + glucose+ urea =2(cations) + glucose + urea = 2(Na + K) + glucose + urea Normal is 296mOsm/Kg

Answer 56

- Microvacular due to glycosylation of basement membrane proteins causing leaky capillaries (retinopathy, nephropathy, neuropathy) - Macrovascular due to dyslipidaemia, hypertension and hypercholesterolaemia - IHD (ischaemic heart disease) - CVA - Peripheral gangrene - HHS - Charcots foot (inflammation leading to weakness of the foot, rockerbottom foot) - Hyperosmolar hyperglycaemic state

Answer 57

- Hard exudates - Blot haemorrhages - Microaneurysms

Answer 58

- If background (blot and dot haemorrhages, hard exudates), improve blood glucose control - If pre-proliferative (cotton wool spot), or proliferative (new vessels on disk), Pan retinal photocoagulation to destroy vessels in the periphery and preserve the macula - If maculopathy (hard exudates eg. background retinopathy near macula) grid of photocoagulation

Answer 59

- Diabetic control - BP control - Inhibition of activity of RAS system (ACEi/ARB) - Stop smoking

Answer 60

- Hyperkalaemia, hyponatraemia - Acidosis - Fluid retention - Retention of waste - Secretory failure (vit D, erythropoietin)

Answer 61

- Itredness, lethargy - SOB, oedema - Pruritis, nocturia, feeling cold, twitching, nausea, loss of taste, weight loss - Anaemia - Renal bone disease

Answer 62

- Hyperkalaemia causes arrythmias, cardiac arrest - Pulmonary oedema - Nausea, vomiting - Malnutrition/ cachexia - Fits - Increasing coma - Death

Answer 63

- Dialysis eGFR<6ml/min and no reversible features - Consider if eGFR<10 - Peritoneal at home, uses the lining of the peritoneum - Haemodialysis hospital based, 3 times a week 4 hours - Transplantation - Vitamin D

Answer 64

Benefits - Improve symptoms - Correct fluid balance - Avoid severe acidoss, hyperkalaemia, and pulmonary oedema resistant to diuretics Risks - Infection, hypotension, arrythmias, access related - Adverse QOL (work, family life, travel)

Answer 65

Benefits - Better renal replacement - Improvement in metabolic disorders - Costs less log term - Prolonged survival and improved QOL Risks - Older and sicker patients not eligible - Immunosuppression (increased infection, increased malignancy) - Not a cure (surgical complications, hospital visits) - Often worse off if the transplant fails

Answer 66

- Diabetes mellitus is a metabolic disorder characterized by persistent hyperglycaemia (random plasma glucose more than 11 mmol/L) with disturbances of carbohydrate, protein, and fat metabolism resulting from defects in insulin secretion (leading to insulin deficiency), insulin action (leading to insulin resistance), or both. - Type 1 diabetes is an absolute insulin deficiency - Type 2 diabetes is insulin resistance and a relative insulin deficiency

Answer 67

- Obesity and inactivity - Family history - Ethnicity (asian, african and black communities) - History of gestational diabetes - Poor dietary habits - Drug treatments (statins, corticosteroids, thiazide diuretic plus beta blocker) - PCOS - Metabolic syndrome - Low birth weight for gestational age

Answer 68

- Absolute insulin deficiency due to autoimmune destruction of insulin producing beta cells of the pancreas - Genetic factors (polygenic) - Environmental factors (diet, vitamin D exposure, obesity, viruses, gut microbiome)

Answer 69

- 2.5 million with diagnosed diabetes in UK - 500,000 with undiagnosed diabetes - 90% of adults diagnosed have type 2 - 8% people with diabetes type 1 - 90% of children in UK with diabetes have type 1 - 1.9% children diagnosed have type 2 - Type 1 5-15 peak age

Answer 70

- Acanthosis nigricans (dark skin around neck and axila) - Skin tags - Central obesity - Hirsutism

Answer 71

- Polyuria, thirst - Weight loss - Weakness - Nausea/vomiting - Leg cramps - Tiredness - Abdominal pain - Confusion/ drowsiness/ coma

Answer 72

- Kussmaul breathing - Dehydration - Hypotension - Peripheral cyanosis - Tachycardia - Hypothermia - Smell of acetone

Answer 73

- Without insulin, patients with T1DM would die within weeks - With replacement, patients can live a normal life but are at risk of complications - Lifestyle can be used initially with T2, but eventually usually insulin is required

Answer 74

- CNS pathology (SAH, stroke, tumour, TBI) - Lung pathology (pneumonia, bronchiectasis, small cell lung cancer) - Drugs (SSRI, TCA, opiates, PPIs, carbamezepine)

Answer 75

- Trauma - Thyrotoxicosis - Fungal infection - Psoriasis

Answer 76

- Capillary ketones - Random plasma glucose >11mmol/L - Fasting plasma glucose >6.9mmol/L - 2 hour plasma glucose >11mmol/L - Plasma or urine ketones high - HbA1c >48mmol/mol - Fasting C peptide low - Autoimmune markers positive

Answer 77

- Metformin | - Diet and exercise is the best for prevention

Answer 78

- Primary hyperparathyroidism is an endocrine disorder in which autonomous overproduction of parathyroid hormone results in derangement of calcium metabolism. - In approximately 80% of cases, over-production of PTH is due to a single parathyroid adenoma and, less commonly, multi-gland involvement may occur.

Answer 79

- Any disorder that results in hypocalcaemia will elevate parathyroid hormone levels and can serve as a cause of secondary hyperparathyroidism. - The most frequent causes of the condition are chronic kidney disease (CKD), malabsorption syndromes, and chronic inadequate sunlight exposure, acting via alterations in vitamin D, phosphorus, and calcium. - CKD causes reduced 1,25-hydroxy vitamin D, decreased calcium and phosphate

Answer 80

Primary - 0.015-0.4% prevalence - 1 in 500 women and 1 in 2000 men aged over 40 years. - A population-based study suggested 2% of post-menopausal women have PHPT, with the disorder being the most common cause of hypercalcaemia in outpatients. Secondary - CKD or vitamin D deficiency - 6% of the population low vit D

Answer 81

- Ageing - Chronic renal failure - Inadequate sunlight exposure - Nutritional deficiency (especially absence of dairy products and fish - most common cause) - Malabsorption - Hepatic dysfunction - Genetic disorder - Obesity - Medication use

Answer 82

- Female sex - Age ≥50-60 years - Family history of PHPT - Multiple endocrine neoplasia (MEN) 1, 2A, or 4 - Hypertension - Current or historical lithium treatment - Hyperparathyroidism-jaw tumour syndrome - History of head and neck irradiation

Answer 83

- Nephrolithiasis (polyuria and polydipsia) - Bone pain - Poor sleep - Fatigue - Anxiety - Depression - Memory loss - Myalgias - Paraesthesias - Muscle cramps - Constipation - Overt neuromuscular dysfunction - Abdominal pain (cause of pancreatitis) - Cardiovascular and metabolic dysfunction - Hard and dense neck mass Stones, bones, thrones, abdominal groans and psychiatric overtones

Answer 84

- Signs of renal failure (discoloured skin, bruising, pruritus, evidence of fluid overload (lung rales, pericardial rub, and peripheral oedema), elevated BP, fatigue, nausea, poor concentration/memory, and myoclonus.) - Muscle cramps and bone pain - Tingling in the fingers or toes CATS go numb (convulsions, arrhythmias, tetany, paraesthesia)

Answer 85

- Chovseks sign (twitching of the face after tapping on the cheek) - Trousseaus sign (Inflating blood-pressure cuff above diastolic for about 3 minutes causes muscular flexion of the wrist, hyperextension of the fingers, and flexion of the thumb) - Bowed legs - Bone pain (looser fractures - pseudofractures) - Arrythmias (long QT interval)

Answer 86

- Serum calcium (high) - Serum intact PTH with immunoradiometric or immunochemical assay - 25-hydroxyvitamin D level (low) - Serum alkaline phosphatase (raised) - Serum phosphorus (low) - 24-hour urinary calcium (high) - Dual-energy x-ray absorptiometry (DXA) scan - Trabecular bone score - Tc-99m sestamibi scanning and ultrasonography - Single photon emission CT + sestamibi scanning - CT neck - 4-Dimensional (4D) CT neck - MRI neck

Answer 87

- Serum calcium (Low/normal) - Serum intact parathyroid hormone (iPTH) (high) - Serum creatinine (high in CKD) - Serum urea nitrogen (high in CKD) - Serum phosphorus (high in CKD) - Serum 25-hydroxyvitamin D (low) - ALP high - Serum magnesium - Ultrasound neck - Sestamibi scan - High-resolution contrast CT scan neck and upper chest - MRI neck and upper chest

Answer 88

Symptomatic/ surgical indications - 1st line parathyroidectomy (recovery 1-2 weeks, leave hospital day 1) + vitamin D supplementation - 2nd line monitoring + bisphosphonate + cinacalcet (used in patients who have severe HPT and dont fit surgical criteria, or to reduce size before surgery) + vitamin D supplementation - Post surgery follow up: measure Ca and PTH 2 weeks and 6 weeks post surgery, check histology. Asymptomatic with no surgical indications - 1st line monitoring + vitamin D supplementation - 2nd line parathyroidectomy + vitamin D supplementation

Answer 89

Lack of sunlight - 1st line UV radiation exposure, vitamin D supplementation, calcium supplementation Malabsorption-related - Optimised management of underlying disease, vitamin D supplementation, calcium supplementation (cholecalciferol) CKD stage 3 or 4 - Dietary phosphate restriction, phosphate binder (low vit D) - Alphacalciferol (normal serum 25-hydroxyvitamin D) - Vitamin D sterol (with hypercalcaemia) - Reduction of calcium load (with hypocalcaemia) - Calcium salt and/or vitamin D sterol CKD stage 5: PTH 300-800 ng/L (300-800 pg/mL) - Vitamin D sterol - Calcimimetic - Dialysis control of calcium CKD stage 5: PTH >800 ng/L (>800 pg/mL) - Parathyroidectomy

Answer 90

- Neck haematoma following surgery - Recurrent and superior laryngeal nerve injury following surgery - Hypocalcaemia following surgery - Pneumothorax following surgery - Osteoporosis - Bone fractures - Nephrolithiasis

Answer 91

- Osteodystrophy - Osteoporosis - Uraemia - Calciphylaxis

Answer 92

- For asymptomatic patients who do not meet the criteria for surgical intervention, 75% have stable disease for up to 10 years. - 25% of patients progress to meeting criteria for parathyroidectomy. - Patients <50 years of age tend to progress to meeting criteria for parathyroidectomy in up to 70%. - The most common cause of mortality is (stroke, myocardial infarction). - Hypercalcaemic dysrhythmias are rare. - Parathyroidectomy cure rate of 95%

Answer 93

- Outlook mirrors the underlying disease | - Surgery or renal transplantation may help

Answer 94

135 and 145mEq/L

Answer 95

3.5 and 5.5mmol/l

Answer 96

2.5-7mmol/L

Answer 97

60-120µmol/L

Answer 98

- Pregnancy - Hypothalamic (excessive exercise, low BMI) - Pituitary (excess prolactin) - Thyroid (hyper or hypo) - Ovaries (PCOS, ovarian failure)

Answer 99

- Weakness - Arythmia - Polyuria (hypokalameia causes resistance to ADH)

Answer 100

- Vomiting - Diuretics - Primary hyperaldosteronism (bilateral hyperplasia or Conns)

Answer 101

- Low ca, low phosphate, high PTH (vitamin D deficiency) - High ca, low phosphate, high PTH (primary hyperparathyroidism) - High ca, normal phosphate, low PTH (hypercalcaemia of malignancy) - Low ca, high phosphate, low PTH (hypoparathyroidism) - Low ca, high phosphate, high PTH (renal failure)

Answer 102

- Characterised by hypotonic hyponatraemia, concentrated urine, and a euvolaemic state. - The impairment of free water excretion is caused by increased arginine vasopressin (antidiuretic hormone or AVP) release.

Answer 103

- Hyponatraemia occurs in 15-22% of hospitalised patients and 7% of outpatients - SIADH most commonly found in hospitalised patients. - 8% of hyponitraemia cases

Answer 104

- Age >50 years - Pulmonary conditions (e.g., pneumonia) - Nursing home residence - Malignancy - Medicine associated with SIADH induction - Central nervous system (CNS) disorder - Postoperative state - Endurance exercise

Answer 105

- Ma be asmpomaic - Absence of signs of adrenal insufficiency or hypothyroidism - Nausea - Vomiting - Altered mental status - Headache - Seizure - Coma

Answer 106

- Serum sodium (low) - Serum osmolality (low) - Serum urea (low) - Urine osmolality (elevated) - Urine sodium Investigations to consider - Diagnostic trial with normal saline infusion (does not improve) - Serum uric acid - Fractional excretion of sodium - Fractional excretion of urea - Serum TSH - Serum cortisol level - Serum arginine vasopressin (AVP) CXR and brain MRI for tumour

Answer 107

- Intravenous hypertonic 3% saline + fluid restriction - Treat underlying cause - Furosemide Chronic (onset >48 hours or unknown) - Intravenous 3% hypertonic saline + vasopressin receptor antagonist (conivaptan). Oral demeclocycline if ineffective - Treat underlying cause - Furosemide

Answer 108

- Central pontine myelinolysis (CPM or osmotic demyelination syndrome) - Occurs in people with longstanding SIADH who undergo overaggressive treatment of hyponatraemia. - CPM is characterised by demyelination of pontine, basal ganglion, and cerebellar regions with resultant neurological symptoms, including behaviour disturbances, lethargy, dysarthria, dysphagia, paraparesis or quadriparesis, and coma.

Answer 109

- Typically resolves once underlying cause is found. - Due to reports of potentially fatal liver injury in patients with autosomal dominant polycystic kidney disease, tolvaptan should not be used for more than 30 days, and it should be avoided in patients with underlying liver disease including cirrhosis.

Answer 110

- Carcinoid syndrome occurs due to release of serotonin (5-hydroxytryptamine) and other vasoactive peptides into the systemic circulation from a carcinoid tumour. - Twenty percent to 30% of midgut neuroendocrine tumours (NETs), 5% of bronchial carcinoid tumours, and approximately 1% of pancreatic NETs secrete 5-hydroxytryptamine and other peptides.

Answer 111

- 2.85 per 100000 US - Slight male sex bias - Most common in 6th to 7th decade - Greater incidence in black people, lower in asians and hispanics than white people

Answer 112

- Midgut tumours that lead to carcinoid syndrome vary from benign, well-differentiated endocrine tumours to low-grade malignant endocrine tumours. Occasionally, some midgut tumours can be poorly differentiated endocrine carcinomas. - Approximately 40% of neuroendocrine tumours (NETs) are functional. - Carcinoid syndrome occurs in 20% to 30% of patients with midgut carcinoid tumours and approximately 5% of bronchial carcinoids. - - Common in liver metastasis and foregut tumours. Rare in hindgut tumours

Answer 113

- Neuroendocrine tumours are associated with MEN-1 in about 10% of cases. - However, very few of these tumours cause carcinoid syndrome.

Answer 114

- Diarrhoea (mediated by serotonin) - Flushing (stress and alcohol association, face and upper trunk) - Palpatations - Abdo cramps - Telangiectasia - Signs of right heart failure - Cardiac murmurs - Hepatomegaly - Wheeze - Pellagra (diarrhoea, dermatitis, dementia) - Abdominal masses

Answer 115

- Serum chromogranin A/B (elevated) - Urinary 5-hydroxyindoleacetic acid (elevated - HIAA levels) - Metabolic panel (raised creatinine if dehydrated) - Liver function tests (variably, depending on site of tumour) - FBC - CT chest abdo pelvis every 4-6 months for staging - Broncosopy (primary tumour) - Endoscopy - Somatostatin receptor scintigraphy/SPECT (somatostatin receptor positive tumour) - MIBG scintigraphy - Histology - PET

Answer 116

- Hypogonadism is a clinical syndrome associated with impaired functional activity of the gonads. Both males and females can be affected. It is classified as either primary or secondary: - Primary hypogonadism (hypergonadotropic hypogonadism) is typically caused by congenital disorders of sex development affecting the gonads (e.g., Turner syndrome, Klinefelter syndrome) or acquired gonadal injury (e.g., irradiation, infection). - Secondary hypogonadism (hypogonadotropic hypogonadism) is most often caused by pituitary or hypothalamic disorders (e.g, craniopharyngioma, Kallmann syndrome).

Answer 117

- Primary hypogonadism is insufficient sex steroid production in the gonads (primary gonadal insufficiency is turner syndrome, klinefelter, anorchia, secondary gonadal insufficiency is damage to leydig cells or ovarian tissue) - Secondary hypogonadism is insufficient GnRH and or gonadotrophin release at the HPA (eating disorders, genetic eg. Prader Willi, hypothalamic or pituitary lesions)

Answer 118

- The prevalence of hypogonadism increases with age. - About a quarter of the US male population have total testosterone levels that are below 10.4 nanomol/L (<300 nanograms/dL) (considered by many experts to be the lower end of normal) - Between 40 and 69 years incidence is approximately 481,000 new cases per year - The European Male Aging Study (EMAS) reports a prevalence of late-onset hypogonadism of 2.1% in men aged between 40 and 79 years. - 1 in 7 UK couples have difficulty conceiving

Answer 119

Men - Type 2 diabetes - Obesity - Renal failure - HIV - Hypertension - Chronic obstructive pulmonary disease (COPD) - Taking glucocorticoid (steroids) - Opioid or antipsychotic medication therapy Women - Stress - Low weight and excessive exercise - High BMI - Physiological - pregnncy

Answer 120

Delayed puberty in men - Testicular hypoplasia - Low body hair growth - High pitched voice - Smooth skin - Lean body mass Delayed puberty in women - Primary amenorrhoea Other: - Developmental abnormalities of the genitalia - Infertility, impotence, decreased libido - Secondary amenorrhoea - Klinefelter gynaecomastia - Turner syndrome webbed and short stature - Kallman anosmia, absent breast development, syndactyly, cleft palate or lip - Prafer willi syndrome muscular hypotonia, short stature, facial dysmorphia - Gaucher diease hepatomegaly, splenomegaly, painful bone crises

Answer 121

- Serum testosterone/oestrogen levels (low) - GnRH, LH/FSH (determine if primary or secondary hypogonadism), TFTs - Bone scan (decreased bone density, delayed epiphyseal closure) - Genetic testing - Serum prolactin - Pelvic ultrasound - Brain MRI (for CNS lesion - ACRH stimulation test to exclude congenital adrenal hyperplasia - Pregnancy test in women

Answer 122

- Addition of strong acid that is buffered by and consumes bicarbonate ion - Loss of bicarbonate ion from the body fluids, usually through the GI tract or kidneys - Rapid addition to the extracellular fluid of a non-bicarbonate solution.

Answer 123

- Bicarbonate (HCO₃-) is lost or diluted, an anion is not generated, and electroneutrality is preserved by reciprocal increases in serum chloride concentration. - Also referred to as hyperchloraemic metabolic acidosis. - Commonly caused by GI or renal loss of HCO₃-. - GI causes include diarrhoea, GI drainage and fistulas, surgical urinary diversion of bowel, and intake of chloride-containing anion-exchange resins. - Renal causes include renal tubular acidosis, carbonic anhydrase inhibitors, hypoaldosteronism, and use of potassium-sparing diuretics. - Other causes include addition of acid by total parenteral nutrition, ingestion of elemental sulfur, or addition of hydrogen chloride (HCl) or other related chemicals such as ammonium chloride.

Answer 124

- An organic acid consumes HCO₃-, and the anion that is produced is often retained in extracellular fluid and serum. - Serum chloride concentration does not increase. - Caused by diabetic ketoacidosis, alcoholic ketoacidosis, lactic acidosis, kidney disease, - Ingestion of methanol, ethanol, ethylene glycol, propylene glycol (diluent in lorazepam), 5-oxoproline (toxic levels may occur in patients with chronic ingestion of paracetamol), salicylic acid, paraldehyde, phenformin, metformin, iron, isoniazid, hydrogen sulfide, carbon monoxide, toluene, or ethylene glycol.

Answer 125

- Arterial pH (normal 7.35 to 7.45, low indicates acidosis) - Measure HCO3- and PaCO2. Low pH and HCO3- indicates metabolic acidosis. Decreased PaCO2 means compensation - Serum anion gap (Sodium + - (Cl- + HCO2-) - Urine AG (Na+K)-Cl if negative non-renal causes - Test for lactate, ketones, toxicology - If diabetes review medication

Answer 126

- Blocks 1a hydroxylase - Increased Ca reabsorption - Increased phsophate excretion

Answer 127

- PTH (mainly increase) - Calcitriol (vitamin D- this increases calcium the most) - Calcitonin (decrease)

Answer 128

- Bone mets - Multiple myeloma - Paraneoplastic syndromes (eg. lung SCC) - Sarcoidosis - Thiazide diuretics

Answer 129

- Saponification | - Autolysis of the pancreas forming breakdown products which calcium binds to

Answer 130

MEN1 - Pituitary - Parathyroid - Pancreas MEN2 - Parathyroid - Pituitary - Medullary thyroid cancer

Answer 131

Primary hyperparathyroidism - Subperiosteal bone resorption - Acro-oseolysis (fingertip erosion) - Pepper pot skull Secondary hyperparathyroidism - Rachitic rosary (swelling of costochondral junctions in children) - Loosers pseudofractures

Answer 132

- Primary defects in the hypothalamic-pituitary axis, postulating increased amplitude and frequency of pulses of LH, or defects involving the ovaries through an intrinsic problem leading to androgen over-production. - Defects in insulin sensitivity with insulin resistance leading to compensatory hyper-insulinaemia. - Multiple genes, each with mild or moderate effects on overall disease risk, are likely to be involved.

Answer 133

- Physiological (pregnancy, breast feeding, stress) - Drugs (haloperidol, methodopa, oestrogens, chronic renal failure) - Diseases (micro or macroadenoma; stalk damage including piruitary adenomas, surgery, trauma; hypothalamic disease, hypothyroidism, chronic renal failure

Answer 134

- MEN1 or FIPA - Female gender, 20 to 50 years of age - Oestrogen therapy - Male gender, 30 to 60 years of age

Answer 135

- Excess production of aldosterone independent of the renin angiotensin system, causing sodium and water retention and decreased renin release - Sodium mildly raised or normal

Answer 136

- 2/3 due to a solitary aldosterone producing adenoma (conns syndrome) - 1/3 due to bilateral adrenocortical hyperplasia - Rarely adrenal carcinoma or glucocorticoid remedial aldosteronism

Answer 137

In the UK there were 316 inpatient admissions with hyperaldosteronism in the 1-year period 2013 to 2014, predominantly in the 15 to 59 year age group (215 cases).

Answer 138

- Risk factors include: family history of PA and family history of early onset (e.g., <40 years) - Hypertension and/or stroke.

Answer 139

- Hypertension - Commonly asymptomatic - Nocturia, polyuria - Lethargy - Mood disturbance (irritability, anxiety, depression) - Difficulty concentrating - Paraesthesias, muscle cramps, muscle weakness, palpitations (if hypokalaemic)

Answer 140

- Plasma potassium - Aldosterone to renin ratio - Fludrocortisone suppression test (failure to suppress aldosterone) - Saline infusion test (fails to suppress aldosterone) - Oral salt loading - Genetic testing - Adrenal CT - Adrenal venous sampling (to see whether aldosterone production is bilateral or lateral) - Adrenal MRI - Adrenal aelenocholesterol scanning - Posture simulation testing - Angiotesnin II infusion testing - 24 hours urinary hybrid steroids - Dexamethasone suppression testing

Answer 141

- Unilateral laparoscopic adrenalectomy, preoperative aldosterone antagonists and postoperative aldosterone antagonists (eg. spironolactone, amiloride) - Bilateral spironolactone and consider surgery if bilateral. Lesions over 2.5cm surgically removed due to malignant potential - Familial hyperaldosteronism dexamethasone or prednisolone will reduce aldosterone, or can use aldosterone antagonists second line - Amiloride used in children

Answer 142

- Unilateral adrenalectomy 50-60% cure - If aldosterone agonists improved hypertension and hypokalaemia reduced, but not as good as adrenalectomy - Patients with FHI treatment with low dose glucocorticoids is very effective

Answer 143

- Bleeding, infection, wound hernia, cardiovascular events (perioperative) - Stroke - MI - HF - AF - Impaired renal function - Aldosterone antagonist or mineralocorticoid receptor antagonist induced hyper halaemia

Answer 144

- Low mineral content of bone following complete growth plate closure - Called rickets in children - Vitamin D deficiency is 25-hydroxyvitamin D of less than 30 nmol/L is deficient. 25-hydroxyvitamin D of 30-50 nmol/L may be inadequate in some people

Answer 145

- Vitamin D deficiency due to low UV-B exposure, insufficient dietary supplementation or inability to absorb vit D - CKD can cause increased vit D output - Drugs such as bisphosphonates

Answer 146

- In the US, Europe, and East Asia, more than 40% of the adult population older than age 50 years are vitamin D deficient - In developing countries, 60% prevenlance in infants

Answer 147

- Dietary calcium and vitamin D deficiency - Chronic kidney disease - Limited sunlight exposure - Inherited disorders of vitamin D and bone metabolism - Hypophosphatasia - Anticonvulsant therapy - Mesenchymal tumours - Fanconi's syndrome (low phosphate) - CF (reduced absorption)

Answer 148

- Fractures (especially common in femoral neck, insufficiency fractures) - Diffuse bone pain and tenderness - Proximal muscle weakness - Waddling gait - Steatorrhoea (malabsorption)

Answer 149

- Serum calcium, 25-hydroxyvit D, phosphate, urea and creatinine, PTH, alk phos (low Ca, low phosphate, high PTH, high alk phos, high vit D) - 24 hr urinary calcium - Bone X rays - 24 hour urinary phosphate - DEXA - Iliac crest biopsy with tetracycline labelling (incomplete mineralisation)

Answer 150

- Calcium carbonate and vitamin D (ergocalciferol) - Alfacalcidiol in patients with renal disease - May need phosphate too

Answer 151

- Insufficiency fractures or pseudofractures - Secondary hyperparathyroidism - Metastatic calcification in renal failure - Hypercalcaemia - Hypercalciuria and kidney stones

Answer 152

- Depends on underlying cause and treatment compliance | - Most recover with medication, oncogenic recover with surgery

Answer 153

- Adrenal crises and infections do cause excess deaths - Mean age of death for men is 65 years - Replacement therapy for life

Answer 154

- Bloods for cortisol and ACTH, u and e, ECG - Give hydrocortisone 100mg IV stat - IV fluid bolus (500ml) - Monitor BG - Blood urine and sputum for culture (often present with sepsis) - Glucose IV may be needed if hypoglycaemia, continue steroids may switch to oral if patient condition includes. Fludrocortisone may be needed

Answer 155

- Scondary cushings - Osteopenia/porosis - Treatment-related hypertension - Crisis

Answer 156

- Hyperosmolar hyperglycaemic state - Profound hyperglycaemia (glucose >30 mmol/L [>540 mg/dL]), hyperosmolality (effective serum osmolality >320 mOsm/kg [>320 mmol/kg]), and volume depletion in the absence of significant ketoacidosis (pH >7.3 and bicarbonate >15 mmol/L [>15 mEq/L]), and is a serious complication of diabetes (type 2)

Answer 157

- Infecion (UTI and pneumonia especially) - Acute illness (stroke, MI, trauma, compromised water intake) - Bed ridden - Post op - Rarely hyperthyroudism and acromegaly - Non-adherence to medication - Initiation of steroids without adjusting insulin dose

Answer 158

- Acute cognitive impairment - Polyuria - Polydipsia - Weight loss - Nausea and vomiting - Weakness - Dry mucous membranes - Poor skin turgor - Tachycardia - Hypotension - Hypothermia - Oligouria - Abdo pain - Focal neuro signs - Seizures

Answer 159

- Blood glucose, ketones (high glucose, low ketones) - Venous blood gas (mild acidosis, lactic acidosis) - Serum osmolality (ocer 320mOsm/kg) - Urea, electroclytes, creatinine (renal impairment, abnormal electrolytes) - FBC (leukocytosis) - ECG (abnormal T or Q waves, ST segment changes) - Urinalysis (UTI) - Cardiac enzymes (MI) - CXR (pneumonia, pulmonary oedema) - LFT - CRP - Blood urine, sputum cultures

Answer 160

Serum potassium <3.5mmol/L, 3.5-5.5 mmol/L - IV fluids with potassium replacement - Supportive care - Insulin - Treat precipitating illness - Monitor bichem markers - Monitor and treat complications - Thromboprophylaxia Serum potassium over 5.5 - Same but no potassium replacement until necessary

Answer 161

- Cushings - Osteomalacia - Thyrotoxicosis

Answer 162

- Cardiac complications (cardiomyopathy, ischaemic heart disease) - Hypertension - Sleep apnoea - Osteoarticular complications - Impaired glucose tolerance and diabetes - Pre-cancerous colon polyps - Carpal tunnel - Hypopituitarism

Answer 163

- Assoicated with premature death - Now, life expectancy close to general population - Reduced quality of life specially indiagnostic delay - Surgery results in control of 70-90% microadenomas and 30-60% macrodenomas - Somatostatin analogues control disease in 30-40%

Answer 164

- Aranulocytosis - Maculopapular rash - Pruritis - Jaundice

Answer 165

- Thyroid surgery - Infection - MI - Diabetic ketoacidosis - Radioactive iodine administration - Hip replacement

Answer 166

- Dont wait for results - Measure freeT3, T4 and TSH - Seek endo advice - IV acess and fluids - NG if vomiting - Blood cultures - Propanolol 60mg - High dose digoxin - Carbimazole - Hydrocortisol, co-amoxiclav - Cannot perform surgery when thyrotoxic

Answer 167

- Hereditary tumour syndromes of variable neoplastic patterns characterised by development of multiple endocrine tumours - Include parathyroid adenomas, piruitary, enterohepatic, facial lipomas, phaeochromocytomas and more

Answer 168

MEN1 - 1 in 50000- 1 in 500000 worldwide prevalence - 90% patients primary hyperparathyroidism by age 50 - 30-75% pancreatic tumours - Prolactinomas most common, then GH secreting adenomas and non functioning - ACTH secreting less common, TSH rare - 25% gastrinomas MEN1 related - Pituitary least common - Thymic and bronchial occur MEN2 - 1000 families worldwide - Most MEN2a - Medullary thyroid cancers most common, nearly all carriers - Phaeochromocytoma 50% MEN2A - Multigland parathyroid adenomas 20% - Rare varients include hirschsprungs and cutaneous lichen amyloidosis - MEN2B is rare and notable for aggressive phaechromocytoma and medullary thyroid cancer at earlier ages, and a marfanoid body habitus

Answer 169

- Autosomal dominant mutations - RET proto-oncogene responsible for almost all MEN2 - MEN1 gene mutations responsible for 80-90% men1

Answer 170

MEN1 - Facial angiofirbomas or collagenomas - Irregular menses - VIsual changes (bitemporal hemionopia) - Infertility - Acromegaly (excess sweating, oversized) - Thyrotoxicosis (tachycardia, lid lag, tremour) - Fractures (cushings) - Erectile dysfunction MEN2 - Sweating, palpitations, headache - 2B mucosal neuromas, marfanoid - Palpable thyroid nodule - Unexplained flushing - Heat intolerance - GI bleeding MEN1/2 - Kidney stones (excess PTH - colicky pain) - weight changes, hypertension, abdo pain - Headache - Altered bowel habit (calcitonin, gastrin) - Palpitations, easy bruising, slow wound healing - Anxiety - Confusion, dehydration

Answer 171

- MEN1 - PTH, calcium, gastrin, chromogranin A, prolactin, insulin-like growth factor 1, glucose/insulin, serum C peptide, calcium stimulated gastrin, proinsuln, pancreatic polypeptide, glucagon, TFTs, imaging, endoscopy - MEN2 - serum calcitonin, serum carcinonoembryonic antigen, plasma metanephrines, PTH and ca, metanephrines, dexa suppression test, MIBG, CT abodo pelvit/ PET, imaging

Answer 172

MEN1 - Parathyroid hyperplasia/adenoma - Pancreas endocrine (gastrinoma/insulinoma/somatostatinoma, VIPoma, glucagonoma) - Pituitary prolactinoma or GH secreting tumour, adrenal and carcinoid tumours MEN2a - Thyroid (medullary thyroid carcinoma) - Phaeochromocytoma - Parathyroid hyperplasia MEN2b - Similar to MEN2a, with mucosal neuromas and marfanoid appearance. No hyperparathyroidism

Answer 173

- Obesity can be defined as a chronic adverse condition due to an excess amount of body fat. - While there are many methods to determine the relative amount of body fat, the most widely used method to determine obesity is the body mass index (BMI), defined as weight divided by height squared ([weight in kg]/[height in m]^2]

Answer 174

- Worldwide <10% in Africa and Southeast Asia, 20-40% in Europe and america, >40% in some pacific islands - 26% in men and women over 16 in england - Highest proportion men age 45-64 and women age 45-54 - 2/3 of Americans overweight or obese

Answer 175

- Calorie intake greater than calories out - Genetic predisposition, behavioural dynamics, hormonal disturbances, cultural influences and environmental circumstances - Genetic - Behavioural (larger portion, sedentary lifestyle, ED, mental illness) - Cultural - Environmental (low socioeconomic status, adverse nutritional environment in utero) - Poor sleep, postmenopause, heavy alcohol - Leptin deficiency - Hormonal (hypothyroidism, hypercortisolism, insulinoma)

Answer 176

- High BMI (over 30) | - Increased weight circumference

Answer 177

- Clinical exam (BMI over 30) | - FBC, transaminases (liver), TFTs, ECG, abdo ultrasound (fatty liver), sleep study (sleep apnoea)

Answer 178

- <4mM in a patent with diabetes | - <2.2mM in a patient without diabetes (neuroglycopaenia)

Answer 179

- Deficiency of one or more pituitary hormones | - Partial or complete deficiency

Answer 180

- Rare - 45 per 100000 prevalence, 4 per 100000 incidence - In contrast, high pituitary adenomas/incidntalomas on autopsy - 1.8 fold higher mortality (CVD)

Answer 181

- Neoplastic (pituitary adenoma most common cause in adulthood. May be micro <10mm, or macro >10mm. Craniopharyngiomas, meningiomas, mets, plasmacytomas) - Pituitary apoplexy (sudden spontaneous haemorrhage of the pituitary, can be of a tumour), sheehan syndrome (post blood loss or child birth causing hypotension), intrasellar aneurysm of the carotid arteries - Lymphocytic hypophysitis, hypophysitis and hypopituitarism, haemochromatosis, sarcoid/TB - Infection - abscess, TB, fungal - Congenital - transcription factor defects, PROP1, TIPT - Radiotherapy - Pituitary surgery - TBI

Answer 182

- Headaches - Failure to thrive, short stature (GH) - Infertility (gonadotrophin) - Hypoglycaemia (adrenal) - Amenorrhoea/oligomenorrhoea (gonadotrophin) - Galactorrhoea (prolactin) - Delayed puberty (gonadotrophin def) - Hypotension - Bilateral hemianopia - Opthalmoplegia - Cold intolerance, weight gain - ED/ reduced libido - Nausea - Vomiting - Fatigue - Weakness, dizziness - Constipation - Dry skin - Reduced bone and muscle mass

Answer 183

- U and E - Serum and urine osmolarity - 8am cortisol and ACTH - TFT - 8am testosterone, FSH, LH - Oestrogen, FSH, LH in women - Prolactin - Insulin like GF1 - Cosyntropin/ tetracosactide stimulation test (inadequate cortisol response) - Insulin tolerance test (cortisol and GH) - Water deprivation/ desmopressin test - MRI/ CT pituitary (CT for craniopharyngioma)

Answer 184

- Pituitary apoplexy IV hydrocortisone (50-100mg IV every 6-8 hrs) - Hypopituitarism - treat underlying cause, oral corticosteroids (hydrocortisone), IV or IM steroids for stress events, levothyroxine, oestrogen, progesterone, gonadotrophins (for fertility), tesosterone - Desmopressin

Answer 185

- Male infertility - Female infertility - Corticosteroid over-replacement - Thyroxine over-replacement - Desmopressin over-replacement - GH overreplacement - Testosterone over-replacement

Answer 186

- 1.8 fold higher mortality compared with age and sex matched population - Cardiovascular and cerebrovascular death rates are higher in patients with hypopituitarism compared with normal population (GH deficiency especially - associated with atherogenic lipid profile and increased body fat)

Answer 187

- A benign tumour in the pituitary gland which does not produce and hormones - Non-secretory destroy surrounding normal pituitary tissue and so can result in hypopituitarism

Answer 188

- 10% of all intracranial tumours in adults, 3rd most common intracranial neoplasm - 19-28 cases per 100000 in the UK - Increases with age - Peak age 30-60, present earlier in women - Non-functional account for 14-54% of pituitary adenomas (5.6 per mill per year). 2nd most common adenoma, following prolactinomass

Answer 189

- Monoclonal - intrinsic genetic alterations | - Unknown aetiology

Answer 190

- MEN-1 - Familial isolated pituitary adenomas - Carney complex

Answer 191

Microadenomas (<10mm) - Mostly asymptomatic Macroadenomas - Hypopituitarism (symptoms depend on hormone deficient) - Mass effects (headache, bitemporal hemianopia, diplopia)

Answer 192

- Cranial contrast MRI single best imaging - intrasellar mass - CT scan where MRI contraindicated, better at craniopharyngioma detection - Hormone assays (prolactin, IGF-1, 24h urine cortisol, TFTs) normal/low - Perimetry for visual field

Answer 193

- Levothyroxine (1.6mg/kg/day), monitor TSH | - If coronary artery disease, use lower starting dose

Answer 194

- Angina - Resistant hypothyroidism - AF - Osteoporosis - Myxoedema coma (confusion, hypothermia, treat with IV thyroid hormone replacement, corticosteroids and supportive therapy) - Complications in pregnancy

Answer 195

- Good prongosis with thyroid hormone replacement | - Dose may need to be adjusted over time

Answer 196

- Sudden headache, vomiting, visual disturbances | - Superior quadrantopia bilaterally

Answer 197

- Papillary (80%, good prognosis, young females) - Follicular 10% - Medullary 4% (secrete calcitonin, parafollicular cells, MENII) - Anaplastic (elderly women, compression symptoms) - Lymphoma (associated with Hashimotos)

Answer 198

Primary - Gonadal dysgenesis eg. turners - Gonadal damage - Primary ovarian failure - PCOS Secondary - Kallmans - Pituitary adenoma, haemochromatosis - Hyperprolactinaemia - Functional (weight loss, stress, eating disorders) - Post OCP

Answer 199

Primary - Gonadal dysgenesis (klinefelters, crytorchidism) - Gonadal damage (torsion, irradiation, trauma) - Post orchitis (mumps, autoimmune) Secondary - Kallman - Pituitary/hypothalamic lesions - Hyperprolactinaemia - Prader Willi syndrome

Answer 200

- ALL children and young people - Patients of any age suspected of having Type 1 diabetes - Patients with symptoms of diabetes for less than 2 months - Patients at high risk who are acutely ill (e.g. those requiring hospital admission) - Patients taking medication that may cause rapid glucose rise e.g. steroids, antipsychotics patients with acute pancreatic damage, including pancreatic surgery - In pregnancy - Presence of genetic, haematologic and illness-related factors that influence HbA1c and its measurement

Answer 201

- Insulin - Basal-bolus (long acting (eg. insulin glargine, subcut injection OD) + short acting before meals (eg. insulin lispro or aspart subcut pre-meal) - Monitor using cap glucose, and over time with HbA1c

Answer 202

- Hypoglycaemia - Diabetic ketoacidosis - Long term microvascular (neuropathy, retinopathy, neuropathy) and macrovascular (IHD, CVD, peripheral artery disease)

Answer 203

- Missed meals/inadequate snacks - Alcohol - Unaccustomed exercise - Inappropriate insulin regime - Some drugs (sulfonylureas, SGLT-2i)

Answer 204

- Palpitations - Tremor - Sweating - Pallor - Anxiety - Drowsiness - Confusion - Altered behaviour - COma

Answer 205

- If conscious oral glucose and complex carbs | - Impaired consciousness: 1mg glucagon IM, if this fails IV dextrose eg. 10% glucose infusion

Answer 206

- Urinalysis (proteinuria/raised ACR) - eGFR - Biopsy is gold standard, shows kimmelsteil wilson nodules - Management: improve glycaemic control, ACE1/ARB

Answer 207

- Peripheral neuropathy (loss of sensation peripherally, monofilament examination used, loss of ankle jerk/vibration sense, charcots joint) - Mononeuropthy (sudden motor loss eg. wrist drop, foot drop, 2rd nerve palsy) - Autonomic neuropathy (GI difficulty swallowing, delayed gastric emptying, bladder dysfunction. Postural hypotension, cardiac effects)

Answer 208

- Glycaemic control | - Neuropathic pain agent (duloxetine, pregabalin or gabapentin)

Answer 209

- Correct water deficient - 5% dextrose - Correct ECF depletion 0.9% saline - Measure Na+ every 4-6 hours

Answer 210

Low t4 and TSH in patients with previously normal thyroid function, caused by a systemic illness.

Answer 211

- Thyroid surgery - Infection - MI - Diabetic ketoacidosis - Radioactive iodine administration - Hip replacement

Answer 212

A cancer of the thyroid gland

Answer 213

Sulphonylureas (eg. glimepiride)

Answer 214

Venlafaxine

Endocrinology Flashcards

(239 cards)