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Disease
Classification
/Causes/
Definition
Symptoms Signs Investigations Diagnosis Complications Treatment
T1DM - autoimmu...
Hyper-glycaemic
hyperosmolar non-
ketotic coma HONK
High glucuse (usually in
T2DM) cause dehydration
without switch to ket...
Hyperparathyroidism
1* hyperfunction of gland,
usually due to adenoma or
hyperplasia, MEN
2* response to vit D deficiency
...
1* adrenocortical insufficiency:
* Autoimmune adrenalitis
* Infectious (TB, HIV)
* Malignant: metastasis (lung,
breast, ki...
* Usually Microadenomas
<1cm, Macro >1cm
Acromegaly, hypersecretion of
growth hormone from the
anterior pituitary
Usually ...
Type 1 - AIRE mutation on
chromosome 21
Type 2 - polygenic (HLA-
linked)
Autoimmune
Polyendocrine
Syndromes
* Addison's
* ...
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Endocrinology for Medical Finals

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Summary of endocrinology information for medical finals.

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Endocrinology for Medical Finals

  1. 1. Disease Classification /Causes/ Definition Symptoms Signs Investigations Diagnosis Complications Treatment T1DM - autoimmune destruction of insulin-secreting pancreatic b-cells. * Polydipsia * Polyuria * Visual blurring * Genital thrush * Hypoglycaemic awareness may be diminished if low glucagon secretion, enquire in Hx * Ketosis * Weight loss * BM, Venous glucose * Ketones * OGTT * Urinalysis * ABG if suspect acidosis * Ix relating to risk factors for comorbidities * Lifestyle advice, patient education * Smoking cessation * Inform driving licence authority not to drive with hypos * Negotiate target HbA1c (6.5%) * Insulin T2DM - insulin resistance, initially more insulin secretion until burns out, ass. with obesity, lack of exercise, wrong diet. Note: MODY is autosomal dominent T2DM * Asymptomatic or complications, e.g. MI, polydipsia and polyuria also possible * Ketosis * Weight loss * BM, Venous glucose * Ketones * OGTT * Urinalysis * ABG if suspect acidosis * Ix relating to risk factors for comorbidities * Patient education * Conservative: lifestyle advice, smoking cessation, weight loss, nutrition (low carbohydrate ketogenic better than low glycaemic index), exercise * Foot care * Assess risk of hypos => falls etc. * Medical - STATINS and Rx for comorbidities - Negotiate target HbA1c (6.5%, 48-57mM) depening on pt wishes and risk factors for comorbidities - METFORMIN (inc i sensitivity), if >53mM HbA1C IFCC at 16w (20-42normal), then + SULFONYLUREA GLICAZIDE (inc i release), if >57mM at 6m then + insulin or Glitazone (inc i sensitivity) - Other: SULFONYLUREA R BINDERS NATEGLINIDE (inc i release), GLP glucagon-like peptide analogues: part of INCRETIN gut hormones (inc i release) EXENATIDE or DPP- 4inh ~GLIPTINS to stop GLP-1 breakdown, s-glucosidase inhibitors ACARBOSE to inh starch breakdown Impaired fasting glucose Impaired glucose tolerance Diabetic Ketoacidosis Hyperglycaemia with associated switch to ketosis due to lack of glucose inside the cells. Triggers: * Infection * Surgery * MI * Pancreatitis * Chemotherapy * Drugs: Antipsychotics * Insulin non-compliance * Drowsiness * Vomiting * Dehydration * Kussmaul breathing (respiratory compensation) * Dipstick, T * BM and venous * Ketones, U&E (K+ and Na+), amylase, FBC * Osmolality * Blood culture * ABG * ECG, CXR Note: ketones can cross-react with creatinine assay! Notes: Na+ may be low due to osmolar compensation => if high then severe dehydration SEVERE if: * ketones >6mM * venous bicarb >5mM * pH <71 * Hyperkalaemia * GCS <12 * O2 < 92% * Hypotensive * Tachy / Bradycardic * Anion gap > 16 ===> HDU/ITU! * cerebral oedema * aspiration pneumonia * hypokalaemia * hypomagnesaemia * hypophosphataemia * thromboembolism * ABC * Fluids: 500mL bolus saline if hypotensive, then 100mL/kg, e.g. 1L/h, 1L/2hx2, 1L>4hx2, 1L>6h, reassess * Ix * Insulin 50u actrapid in 50mL 0.9% saline @ 0.1u/kg/h and long-acting * aim: ketones fall 0.5mM/h HCO3- rises 3mM/h and glucose falls 3mM/h, otherwise raise insulin => minitor 1h,2h,2hrly * K+ replacement needed? When urine output >30mL/h, if normal then maintenance 40mM, if low then senior help * Catheter? NG tube? * LMWHeparin * Add 10% glucose when below 14mM to prevent hypos * switch insulin regime at <0.3mM ketones, pH > 7.3 and bicarb > 18mM * treat cause Diabetes * Symptoms AND raised venous glucose (fasting >7mM or random > 11.1mM) OR * Raised venous glucose on 2 occasions (as above) or on OGTT >11.1mM * HbA1c > 48mM/6.5% (not excluded if below) - less reliable Of hyperglycaemia * Retinopathy * Nephropathy * Neuropathy * Vascular: stroke, RAS, ischaemia, heart disease Of treatment * Hypoglycaemia Fasting between 6.1 and 7mM. => also needs OGTT. Need lifestyle advice and annual review. T2DM incidence 25%.. (post prandial) Fasting <7mM and OGTT between 7.8 and 11.1mM. Need lifestyle advice and annual review.
  2. 2. Hyper-glycaemic hyperosmolar non- ketotic coma HONK High glucuse (usually in T2DM) cause dehydration without switch to ketosis. * Longer Hx (1w) * Marked dehydration * Glu >35mM but no acidosis * focal CNS signs * chorea * DIC * leg ischaemia * rhabdomyolysis * DVT * LMWH prophylaxis * rehydrate slowly, up to 15L deficit! * replace K+ when urine starts to flow as in DKA * only use insulin if glu not down by 5mM/h and keep at 10-15mM for 1st day to avoid cerebral oedema * look for cause: drugs, MI, bowel infarct Hypoglycaemia Glucose < 3mM. NOTE: whole blood glucose os 10-15% < plasma glucose. EXPLAIN Exogenous drugs: insulin! also if not diabetic Pituitary insufficiency Liver failure Addison's Insulinoma of islet cells and Immune (Ig against insulin R in HL) Non-pancreatic neoplasms * BM / venous glucose * +/- 72h fasting glucose * insulin, C-peptide and plasma ketones, insulin receptor antibodies Note: c(C-peptide) = c(endogenous insulin) High if insulinoma or sulfonylurea, low if exogenous insulin caused the hypo. If insulin low and ketones high: EtOH, pit ins, Addison's Whipple's triad: pt's symptoms result from hypoglycaemia and may be caused by insulinoma: * Symptoms and signs of hypoglycaemia * Low plasma glucose * Resolution of s&s after plasma glucose raises * Brain damage * Death * Oral: Oral sugar or long-sacting starch * IV glucose (20% better than 50% stated in books, 50mL, 50% causes phlebitis) * 1mg IM glucagon IM if no IV access, followed by oral carbohydrate, not in liver disease. * Review insulin regime in diabetics Hyperthyroidism/ Thyrotoxicosis * Grave's = hyperthyroidism due to autoimmune cause and + eye disease, myxoedema and acropachy. * Toxic multinodular goitre * Toxic adenoma * Ectopic thyroid tissue (metastatic follicuar thyroid cancer, ovarian teratoma) * Iodine excess, food contamination or contrast media * Subacute De Quervain's thyroiditis * DRUGS: Amiodarone, lithium * Postpartum TB Hyperthyroidism: * Tachycardia * Warm, moist skin * Fine tremor * Irritability * Oligomenorrhoea * Weight loss or paradoxical weight gain * Psychosis * GOITRE Graves = includes eye symptoms, which are: - Exophthalmos - Lidlag - Ophthalmoplegia, esp. upwards - Grittiness - Photophobia - Reduced VA - Chemosis - Corneal ulceration - Afferent pupillary defect Also: - Pre-tibial myxoedema - Thyroid acropachy (sub- periosteal new bone formation) Deposition of glycosaminoglycans * Thyrotoxic cardiomyopathy * Angina, AF * Osteoporosis * Thyrotoxic storm: - confusion and coma - acute abdomen - heart failure - CV collapse - due to thyroid surgery, radioiodine, MI, infection, trauma - Urgent treatment IV access, TFTs and cultures, sedation if necessary, monitor BP, Propanolol IV/PO unless asthma or poor CO, digoxin, carbimazole, hydrocortisone/dexamethasone inhibits T4 to T3 conversion, treat infection if cause, cool * Smoking cessation * MEDICAL: b-blockers to control symptoms, then either - titrate carbimazole with dose change every 1-2m until TSH normal - block and replace = carbimazole + thyroxine, req. less blood tests. - Grave's for 12-18m then stop therapy if relapse radioiodine or surgery. Thyroid eye disease: steroids, immunosuppressants, surgical decompression if severe, orbital radiotherapy, infliximab * SURGICAL: thyroidectomy * RADIOIODINE Subclinical Hyperthyroidism * Confirm it is persistent * ID cause * Treat if symptomatic or TSH <0.1 Hypothyroidism * Iodine deficiency * 1* autoimmune, atrophic => no goitre * Hashimoto's = lymphocytic and plasma cell infiltration * Drugs: amiodarone, lithium, iodine, carbimazole * Hypothyroid 2* to hyperthyroidism * Tired * Lethargic * Low mood * Dislikes cold * Weight gain * Constipation * Menorrhagia * Hoarse voice * Cognitive problems * Dementia * Myalgia * Cramps * Weakness BRADYCARDIC * Reflexes relax slowly * Ataxia * Dry hair and skin * Yawning * Cold hands * Ascites and non-pitting oedema * Round puffy cace * Defeated * Immobile, ileus * CCF * +neuropathy, myopathy, goitre * Complications in pregnancy: eclampsia, anaemia, permaturity, low birthweight, stillbirth * Myxoedema coma - hypothermia, hyporeflexia, hypoglycaemia, bradycardia, coma, seizures, psychosis - due to thyroidectomy, radioiodine, pituitary surgery - Treatment TFTs, cultures, cortisol, glucose, ABG, correct hypoglycaemia, Iv T3, Iv hydrocortisone,treat suspected infection, careful fluid, warm * MEDICAL: levothyroxine. Aim to normalise TSH and clinical state. Adjust 6-weekly and test TFTs >4w (long half life of thyroxine). Then yearly review. If elderly titrate up slowly as to not precipitate angina. Subclinical Hypothyroidism * Confirm that it is persistent * Review Hx * Low threshold for treatment - if TSH >10, antibodies, autoimmune or past Grave's. - if TSH 6-10 treat for 6m and observe * Autonomic: sweating, anxiety, hunger, tremor, palpitations, dizziness * Neuroglycopenic: confusion, drowsiness, seizures, coma, visual, may include restlessness, incoherence, personality change * TSH and free T4, (T3 - more active, made in periphery - if suspect hyper, not hypo) * TRAB (Grave's) * Thyroid peroxidase AB (Hashi) * TBG (thyroxine-binding globulin) * Thyroid US * Thyroid scintigram (hot nodules) * ESR * FBC (neutropenia and anaemia in Grave's, macrocytosis in hypo) * U&E (raised Ca2+) * LFTs * Lipid profile (raised in hypo) Think of thyroid disease if: AF, hyperlipidaemia, DB, T1DM in pregnancy, amiodarone, lithium, Down's, Turner's, Addison's Mind many associations of hypothyroidism with other autoimmune disease and syndromes.
  3. 3. Hyperparathyroidism 1* hyperfunction of gland, usually due to adenoma or hyperplasia, MEN 2* response to vit D deficiency or chronic renal failure (calcitriol made in kidney), hyperphosphataemia => hypocalcaemia => raised PTH 3* 2* leads to 1* via hyperplasia, usually kidney cause Ectopic PTHrP from paraneoplastic breast, squamous cell carcinoma of the lung, renal cell carcinoma * Can be asymptomatic * Symptoms of hypercalcaemia: "Bones, stones and psychic moans" * Weak, tired * GI disturbance: Ca stimulates gastrin release, d&v, anorexia * Polydipsia and polyuria * Ectopic calcification * Hypercalcaema * Hypertension * Pyrexia * U&E (Ca2+, phosphate, urea as need to consider dehydration as cause of hypercalcaemia) * Parathyroid hormone (if 1* then high PTH, high Ca2+ and low phosphate, if 2* then PTH high and Ca2+, phosphate low) * LFTs (look for signs of malignancy such as low protein, ALP as increased bone breakdown + raised phosphate) * 24h urinary Ca2+ * FBC * Protein electrophoresis (for paraprotein) * CXR * Isotope bone scan/scintigram * DEXA scan for bone density Also consider drugs as cause of hypercalcaemia (thiazides, lithium), myeloma and hypocalciuric hypercalcaemia * CONSERVATIVE: fluids and avoidance of diuretics, Ca2+ and vitD * MEDICAL: cinacalcet reduces PTH secretion. If 2* due to vitD deficiency then give VitD * SURGICAL: excision of adenoma Hypoparathyroidism 1* = gland failure, e.g. autoimmune, congenital Iatrogenic after thyroidectomy SPASMODIC * Spasms * Paraesthesiae * Anxious * Seizures * Inc muscle tone * Impaired orientation * Dermatitis * Impetigo herpetiformis * Chvostek's sign (twitching of mouth when tapping facial nerve) * Hyperexcitability of nerve and muscle * Prolongued QT on ECG * Trousseau's sign (Mains d'accoucheur) * U&Es (Ca2+ will be low and PTH will below, if 2* HYPERparathyroidism then PTH high and signs of hypocalcaemia) * LFTs for ALP * Ca2+ supplements and caicitriol/synthetic PTH Cushing's = hypercortisolism * Iatrogenic * Pituitary Cushing's: Benign pituitary adenoma secretes ACHT * Adrenal Cushing's: Adrenal tumour or hyperplasia * Ectopic/Paraneoplastic: Lung CA, breast CA * Also possible: ectopic CRH production by thyroid or prostate CA Weight gain, mood change, proximal weakness, gonadal dysfunction, acne, recurrent Achilles tendon rupture, virilisation if female. Central obseity, moon face, nuchal fatpad, supraclavicular fat distribution, skin and muscle atrophy, purple striae, bruises, poor healing, osteoporosis, hypertension, hyperglycaemia/diabetes, infection prone * Determine high cortisol: - 24h urine collection - Test circadian variation in cortisol by salivary test at midnight (low if normal high if Cushing's) and in the morning (higher if normal, also high if Cushing's). - Dexamethasone suppression test (see below) * Determine origin of problem: - Plasma ACTH: if low then adrenal cause - 48h Dexamethasone suppression test: ectopic production would not be suppressed - CRH test (see below) * Other - bilateral inferior pertrosal sinus sampling - imaging - adrenal scintigraphy or adrenal vein sampling High cortisol and not suppressable by ACTH. ACTH level determines if adrenal or pituitary cause (low => adrenal cause) * fractures * unusual infections * MEDICAL: metyrapone, ketoconazol, fluconazole to reduce cortisol levels, mifepristone to compete at receptors, etomidate toblock synthesis. * SURGICAL: Trans-sphenoidal removal of pituitary adenoma, adrenalectomy, treatment of ectopic cause 1* Hyperaldosteronism * Adrenocortical adenoma (Conn's) * Adrenal hyperplasia * Familial * Adrenal carcinoma * GRA: glucocorticoid remediable aldosternoism (due to gene fusion, aldo. is under ACTH control) 2* Hyperaldosteronism * Renal artery stenosis, hypertension, diuretics, CCF, hepatic failure Asymptomatic, weakness, cramps, paraesthesiae, polyuria, polydipsia, potential hypertension Hypernatraemia (mildly raised or normal), hypokalaemia (can be normokalaemic) associated with hypertension. (DOES NOT CAUSE SUPPRESSION OF ACTH) * U&E * Serum renin and aldosterone while not on diuretic * Genetic testing * MEDICAL - Spironolactone - Amiloride (K+ sparing diuretic) - Eplerenone (Aldosterone antagonist, no gynecomastia) - Dexamethasone for suppression if GRA * SURGICAL - Laparoscopic adrenalectomy for Conn's CAH Congenital adrenal hyperplasia: enzyme deficiency (21/11b hydroxylase) cause inability to produce cortisone Three forms: * Salt wasting * Virilising: masculinisation of female fetuses * Late onset * Measure 17- hydroxyprogesterone = link between progesterones and androgens/glucocorticoids * MEDICAL: Mineralocorticoids and glucocorticoids Hyperadrenalism
  4. 4. 1* adrenocortical insufficiency: * Autoimmune adrenalitis * Infectious (TB, HIV) * Malignant: metastasis (lung, breast, kidneys), lymphoma * Haemorrhage (WFS) * Congenital Lean, tanned, tired, tearful, weakness, anorexia, dizziness, fainting, flu-like myalgias and arthralgias, low mood, nausea and vomiting, abdo pain, diarrhoea and constipation. Pigmented palmar creases and buccal mucosa, postural hypotension, vitiligo. Hyperkalaemia, hyponatraemia, volume depletion, hypotension. * U&Es * BM * FBC: anaemia * Short ACTH stimulation test (Synacthen test, see below) * ACTH levels (should be high at 9am if 1*) * 21-hydroxylase adrenal autoantibodies * Plasma renin and aldosterone to assess mineralocorticoid axis * AXR/CXR for past TB or calcification of adrenals * CT * Ix for other autoimmune disease if clinical suspicion * Addisonian crisis = acute adrenocortical insufficiency: - Hypovolaemic shock - Hypoglycaemia - Hyponatraemia - Hyperkalaemia? + triggers, e.g. infection or stress, steroid withrawal * MEDICAL - steroid replacement: 15-25mg hydrocortisol daily (AM and lunchtime, AM highest dose) - +/- mineralocorticoids fludrocortisone PO 50-200ug - Patient education regarding steroid card and bracelet, necessity of compliance, dose changes if exercise, infection or stress. 2* * iatrogenic * as part of panhypopituitarism or ht-pit disease Not tanned, the colour comes of the ACTH precursor which is not present in excess if 2* Mineralocorticoids not decreased if 2* Phaeochromocytoma "Hypercatecholaminism" caused by an adrenal medullary neoplasm (sympathetic chromaffin cells / ganglioma), can be syndromic: NF1, von Hippel-Lindau. Ectopic source: paraganglioma, e.g. at aortic bifurcation Triad of episodic headache, sweating, tachycardia. Panic attacks. Hypertension, tachycardia. * Raised WCC * 24h urine collection for free metadrenaline and normethadrenaline * Clonidine suppression test (see below) * CT/MRI * MIBG scan (scintigram for chromaffin cells) * Hypertensive crisis caused by palpation, stress, parturition, general anasthetic or contrast media. * Hypertension + fever and pulsating headache with ECG signs of LVF with ST-elevation and VT => cardiogenic shock * Treat with combined a and b blockade (a first otherwise hypotension worsened) * MEDICAL a-blockade (phenoxybenzamine) before b-blocker * SURGICAL adrenalectomy? * RADIOLOGICAL therapeutic radiolabelled MIBG Hypopituitarism Decreased secretion of pituitary hormones. Order of decrease: GH, LH/FSH, prolactin, TSH, ACTH Cause in Hypothalamus: * Kallman's * Neoplastic * Inflammation * Infection Cause in Pituitary: * Trauma * Surgery * Tumour * Vascular: carotid artery aneurysm * Irradiation * Ischaemia, e.g. Sheehan's. * Inflammation * Infiltration * Low GH: weight gain, atherosclerosis, dry skin, feeling unwell * Low Gonadotropins: oligo/amenorrhoea, infertility, loss of libido * Low prolactin (rare): absent lactation * Low TSH: signs of hypothyroidism * Low cortisol: signs of adrenal insufficiency * Low GH: reduced CO, hypoglycaemia, osteoporosis, central obesity * Low Gonadotrophins: Osteoporosis, breast atrophy, dyspareunia, erectile dysfunction, hypogonadism . * LH, FSH, T, Oe * TSH, T4 * Prolactin (may be high) * IGF-1 * U&E: hyponatraemia * FBC: normochromic, normocytic anaemia * Insulin stress test (see below) * Glucagon stress test (see below) * Synacthen test (see below) * Arginine and GH releasing hormone test (not included) * MRI * Hypopituitary coma, e.g. in Sheehan's, SAH: - Hypothermia - Refractory hypotension - Headache - Ophthalmoplegia - Decreased consciousness - Hypoglycaemia - if on background of untreated hypopit then short statue, loss of pubic hair, gonadal atrophy - Treat with IV hydrocortisone, then liothyronine * MEDICAL: hormone replacement - hydrocortisone, thyroxine, T, Oe, some T and DHEA in women, LH/FSH to induce fertility, somatotropin (GH) Diabetes insipidus Insufficient ADH release from post. pituitary or due to nephrogenic cause (impaired water resorption) * Idiopathic * Congenital (Wolfram's syndrome) * Trauma * Surgery * Autoimmune hypophysitis * Infiltration * Haemorrhage * Infection * Polyuria * Polydipsia * Dehydration * >3L of urine/d * Hypernatraemia * U&E * BM to exclude DM * Serum and urine osmolalities (urine osmolality less than plasma) * Water deprivation test (see below) * Head MRI if cranial cause Note DD: * DM * Drugs: Diuretics or Li * 1* polydipsia * If severely dehydrated: - IVI to replace fluids - treat hypernatraemia slowly - therapeutic desmopressin trial * Treat cause * If nephrogenic, Bendroflumethiazide. SIADH => hyponatraemia Note: hyponatraemia caused by dilution * Malignancy, incl. paraneoplastic * CNS disorders incl. infetions, stroke, haemorrhage, trauma/surgery, GBS * Autoimmune: vasculitis, SLE * Lung disease: mainly infections and SC CA * Endocrine: hypothyroid can mimic * DRUGS: opiates, SSRIS, .. * Other: porphyria, HIV, major surgery * concentrated urine in the presence of hyponatraemia * Treat cause * Restrict fluid * Possibly diuretics with salt * Vaptans: ADH antagonists Hypoadrenalism
  5. 5. * Usually Microadenomas <1cm, Macro >1cm Acromegaly, hypersecretion of growth hormone from the anterior pituitary Usually due to prolactinoma, 1% ectopic GH from carcinoid tumour. * Acroparaesthesia * Amenorrhoea * Loss of libido * Headache * Sweating * Rings, gloves, shoes don't fit * Coarse facial features * Gigantism in children * Prognathism * Big supraorbital ridges * Macroglossia * Widely spaced teeth * Scalp folds * Skin darkening * Acanthosis nigricans * Laryneal dyspnoea due to fixd cords * Obstructive sleep apnoea * Goitre * Prox. weakness, arthropathy * Carpal tunnel syndrome * +/- mass effect and hypopituitarism * BM * U&e for Ca2+ and phosphate * Mind GM secretion is pulsatile therefore random test may not be informative * IGF-1 (downstream of GH, if high then strong suspicion) * Oral glucose tolerance test OGTT (see below) * Test for hypopituitarism * MRI of pituitary * Visual fields and acuity * ECG, echo * OLD PHOTOS * Impaired glucose tolerance * DM * Hypertension and LVH * Cardiomyopathy * Arrhythmias * Ischaemid heart disease * Stroke * Increased risk of colon cancer * SURGERY Often 1st line transsphenoidal resection * MEDICAL Somatostatin analogues (octreotide, lanreotide, pegvisomant, also post-surgery +/- radiotherapy * Follow up: yearly GH, IGF-1 and OGTT Hyperprolactinaemia Usually due to prolactinoma. Can also be stalk compression (disinhibition as no DA suppression), hypothalamic disease, DA antagonist, hypothyroidism, CKD, pregnancy/breastfeeding/stres s/orgasm (physiological) * Amenorrhoea/poligomen. * Infertility * Galactorrhoea * Loss of libido * Osteoporosis * Mass effects from the tumour * Prolactin levels to distinguish drug cause (less high) from pituitary cause (>5000mU/L) * Pregnancy test * TFT * U&E * MRI of pituitary * MEDICAL DA agonists (bromocriptine/cabergoline), including if microadenoma (shrinks tumour), then + monitoring * SURGICAL if macroadenoma and visual symptoms, may need radiotherapy and continuation of medical treatment if incomplete resection. MEN1 * analysis of MEN1 gene if multiple endocrine neoplasms and >40, FH and >2 organs * Surveillance * Surgical resection MEN2a * genetic testing * Prophylactic thyroidectomy +/- adrenalectomy * Surveillance MEN3a * genetic testing * can test calcitonin as high in MEN but not in normal CA * Prophylactic thyroidectomy +/- adrenalectomy * Surveillance Type 1 - NF1 gene mutation, more common * >2 diagnostic criteria: >6 cafe au lait patches, >2 neurofibromas, freckling, optic nerve glioma, >2 Lisch nodules, sphenoid / long cortex bone dysplasia, 1* relative with NF1 * Mild learning disability * Nerve root compression * GI obstruction and bleeds * Hypertension from RA stenosis or phaeochromocytoma * Epilepsy * 5% Optic glioma or sarcomatous change in neurofibroma * Rare: carcinoid * Multidisciplinary: geneticist, neurologist, surgeon, physio, GP * BP, vision and cutaneous monitoring * In children monitoring growth and development * Excision of most troubling neurofibromas * Genetic counselling Type 2 - NF2 gene mutation, 50% de novo and some mosaicism * Bilateral acoustic neuromas OR 1* relative with NF2 AND unilateral ac.neur. at 30 or 2 of meningioma, schwannoma, glioma or posterior lens opacity * Tender schwannomas * 45% Meningiomas in NF2 (often >1) * Glial tumours less common * Yearly hearing tests from puberty, screen for catarract? * MRI brain if abnormality * Neurosurgical treatment of schwannomas Von Hippel Lindau VHL tumour suppressor gene mutation * Annual screening: urine testing, 24h VMA, Renal USS, ophthalmoscopy and fluirescein angiography, brain MRI /3y Peutz-Jeghers STK11 (TS) mutation * Regular colonoscopy and OGD from 18y onwards Carney complex TS mutation * Surgical Pituitary Tumours Multiple Endocrine Neoplasia (autosomal dominant) * Pituitary prolactinoma * Parathyroid hyperplasia/adenoma * Pancreas gastrinoma, insulinoma, somatostatinoma, glucagonoma, VIPoma * Parathyroid hyperplasia * Medullary thyroid carcinoma * Phaeochromocytoma * Like MEN2a without parathyroid + mucosal neuromas and Marfanoid body habitus Neurofibromatosis (autosomal dominant) * Variable penetration * Cafe-au-lait spots (>6/>15mm) * Freckling of skin folds (e.g. axilla) * Dermal neurofibromas, gelatinous, papillomatous * Nodular neurofibromas at nerve trunks, pressure => paraesthesiae, can undergo sarcomatous change * Optic nerve and brain gliomas * Malignancies in 5% with NF1 * Lisch nodules - brown hamartomas of the iris * Short stature * Macrocephaly * Phaeochromocytoma * Bilateral acoustic neuromas / vestibular schwannomas => sensorineural hearing loss * Meningiomas * Juvenile posterior subcapsular lenticular opacity (catarract) * Cerebellar haemangioblastomas * Retinal angiomas * Renal tumours * Polycychaemia * Phaeochromocytoma * Dark freckles on the lips, mucosa, palms and soles of feet * multiple GI polyps (hamartomas) * 15fold inc risk of GI cancer * Spotty skin pigmentation * Schwannomas * Myxoma of skin, mucosa or heart (atrial)
  6. 6. Type 1 - AIRE mutation on chromosome 21 Type 2 - polygenic (HLA- linked) Autoimmune Polyendocrine Syndromes * Addison's * Chronic candidiasis * Hypoparathyroidism * Other autimmune disease including hypogonadism * Treat individual pathology and anticipate other manifestations by screening* Addison's * T1DM * Thyroid disease * Hypogonadism * Other autoimmune disease including hypogonadism
  • MorganParrott1

    Sep. 25, 2020
  • LIMYUE1

    Jun. 9, 2020
  • laurentgraham

    Oct. 2, 2018
  • vishnuprasad344

    Aug. 9, 2016

Summary of endocrinology information for medical finals.

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