Endocrine Flashcards
PC hyponatremia
N/V, anorexia, confusion, muscle cramps , seizures, coma
Causes of hypovolemic hyponatremia
Pre-renal : Burns, D/V, pancreatitis
Renal: Diuretics, Addisons, nephropathy, osmotic diuresis
Salt loss in excess of H20 loss
Causes of euvolemic hyponatremia
Dilutional hypoantremia due to intake of water in excess of kidneys ability to excrete.
SIADH, severe hypothyroidism, fluid overload, psychogenic polydipsia
Causes of hypervolemic hyponatremia
Water excess = HF, cirrhosis, renal failure
Functions of kidney
Secrete epo and renin. Regulate levels of Na+, K+, Cl-, phosphate, HCO3. Regulate acid base balance
Pseudohyponatremia
hyperglycaemia, hyperlipidemia, hyperprolactinemia
MOA bisphosphonates
Accumulate in bone matrix inhibit osteoclast action by blocking HMG-reductase. Reduced bone reabsorption and calcium uptake
Indications for bisphosphonates
osteoporosis, hypercalcemia, metastasis/Pagets
SE of bisphosphonates
Oesophageal irritation, headache, osteonecrosis of the jaw, hypocalcemia
Osteomalacia
Inadequate mineralisation of bone. Due to vit D deficiency (CKD, poor diet, malabsorption
PC osteomalacia
diffuse joint/bone pain, weakness, bowing of legs, compressed vertebrae, #NOF
Signs of osteomalacia
Inv - low Ca2+, high PTH, high Alk phos
X-ray - craniotabes, cupped epiphyses
Rapid correction of sodium
Pontine demyelinosis - demyelination and necrosis of central pons and corticospinal tracts leading to quadriplegia, ophthalmoplegia, pseudo bulbar palsy and coma
Inv for hyponatremia
rule out pseudo causes - BM, cholesterol
TFT’s to rule out hypothyroid
U+E’s - Addisons (high K+, low Na+)
Urine osmolality - SIADH
Mx hyponatremia
Stop all diuretics, SSRI’s
SIADH - fluid restriction, levels of sodium are normal just diluted
Acute + symptomatic = 3% hypertonic saline 150ml IV over 15 mins to rapidly replace ( don’t increase by over 10mmol/L in 24hrs)
Find the causes!!
Severe acute hyponatremia
Cerebral oedema leading to brainstem herniation due to h20 shift from blood vessels to interstitial space.
SIADH
Inappropriate ADH levels leads to fluid retention and hyponatremia. ADH acts to increase aquaporin insertion at the distal convoluted tubule. This leads to low osmolality. As the body retains h20 aldosterone is released to facilitate Na+ loss hence facilitation h20 loss down its concentration gradient.
SIADH Inv
low Na+ and plasma osmolality
high urinary Na+ and urinary osmolality
normal thyroid function, no evidence of Addisons
Mx SIADH
fluid restrict
ADH receptor antagonist - demeclocycline
find the cause!!
Causes of SIADH
Ectopic ADH - SCLC Hypothyroidism Infections - pneumonia, TB, lung abcess, meningitis SAH, trauma, stroke, Drugs - SSRI's, carbamazepine,
Hypernatremia PC
Na+ >145 Pc - thirst, polydipsia, polyuria, dehydration leading to weakness, seizures and coma
Causes of hypernatreamia
hypovolemic - vomiting, sweating, burns = dehydration
euvolemic - diabetes insipidus (mass water loss)
hypervolemic - hyperaldosteronism, Cushing’s
Much rarer almost exclusively due to h20 deficit
Causes of hypokalemia
reduced intake - malnutrition, chronic alcoholism
increased losses - vomiting, diarrhoea
Conn’s, cushings
diuretics, insulin OD, alkalosis, Bblocke
Ranges of potassium
hypo < 3.5 moll/l
hyper > 5.5 moll/l
Potassium physiology
98% intracellular maintained by Na+/K+ pump. approx 87% absorbed @ proximal convulted tubule and thick ascending limb. Leaves 13 % variable for distal consulted reabsorption via aldosterone. Aldosterone = Na+ reabsorption and K+ excretion
PC hypokalemia
asymptomatic, hypotonia, hyporeflexia, cramps + tetany
ECG changes in hypokalemia
flattened t waves, increased PR and Qt interval , low volume QRS, ST depression
Potassium modulators
B2 agonists ie salbutamol stimulate Na+/K+ pump
Insulin drives K+ intracellularly
Alkalosis - low H+ levels in blood leads to H+/K+ exchange to increase blood H+ levels
Mx hypokalemia
mild + moderate (2.5 - 3.9) - oral K+ supplements
severe (<2.5) IV 40mmol KCL in 1l 0.9 % Nacl (max 20mmol per hr)
Causes of hyperkalemia
rhabdomylosis, tumour lysis syndrome Addison's , hypoaldosteronism ACEi, potassium sparing diuretics, B blockers Renal failure Metabolic acidosis, DKA
PC hyperkalemia
tachycardia, palpitations - arrhythmias
flaccid paralysis and weakness
ECG signs of hyperkalemia
Tall tented t waves, wide QRS, small p waves - risk of VF
Mx of hyperkalemia (>6.5)
IV calcium gluconate 10% 10ml - stabalise cardiac membrane
Nebulised salbutamol
IV 20% glucose and 10 Units insulin infusion
Posterior pituitary
ADH and oxytocin
1 vs 2 endocrine disease
1 = dysfunction of target organ 2 = pituitary dysfunction
Congenital adrenal hyperplasia
21 hydroxylase deficiency 46xxF leads to development of male characteristics muscle bulk, body hair and deep voice. Due to increased circulation androgens
Mineralocorticoid
Aldosterone produced by zona glomerulosa. Acts vasoconstrictor the efferent renal arteriole to increase filtration. Increases sodium retention and potassium excretion. Stimulates ADH release and thirst reflex
Glucocorticoids
Cortisol produced by the zona fasiculata. Causes gluconeogensis leading to hyperglycaemia. Protein catabolism leading to muscle wasting. Reduced calcium uptake - osteoporosis. Reduced immune response
Testing the pituitary
short synacthen - stimulate using acth
dexamethasone suppression - halt cortisol secretion via -ve feedback
Causes of hypopituitarism
Iatrogenic - surgery, irradiation Vascular - apoplexy, sheenans syndrome Infiltrative - sarcoidosis, haemochromatosis Neoplastic - metastasis, adenoma Infective - TB, abcess
Function of oestrogen
2ndary sexual characteristics, inhibits bone reabsorption, alters lipid profile
Function of progesterone
maintains uterine lining, reduced contractility of uterine SM, reduced skin elastic
Apoplexy
Infarction of pituitary due to haemorrhage or schema linked to presence of pituitary adenoma. Increased risk in DM, DIC and anticoagulation.
PC of apoplexy
PC - severe onset headache, vomiting, meningism
visual loss and opthalmaplegia
(cavernous sinus compression)
Mx of apoplexy
confirm diagnosis with MRI, IV steroids and fluids to replace. V hard to differentiate from SAH
Sheenhan’s syndrome
haemorrhage infarction of pituitary. Often due to post partum haemorraghe
Mass effect of pituitary adenoma
Classically gradual vision loss tunnel vision due to optic chiasm compression. Bitemporal hemianopia
Headache and nausea. Possible hyper/hypopituitary
Hyperpituitary problems
SIADH, acromegaly, Cushings syndrome, hyperthyroid, hyperprolactinemia
Causes of Cushings syndrome
ACTH dependent - Cushing's disease (benign adenoma) ectopic ACTH (SCLC, thymic/pancreatic carcinoid)
ACTH independent - bilateral hyperplasia, adrenal adenoma
Exogenous steroids - inhalers, steroids
PC Cushings
central obesity - moon face, buffalo hump, wt gain
proximal muscle wasting
straie, easy bruising, fragile skin, acne and hirsutism
impotence, depression and insomnia
Complications of Cushings
HTN, DM, osteoporosis, metabolic syndrome
Investigation Cushings
24hr urinary cortisol
high Na+, low K+ (due to high aldosterone levels
high BP, high glucose
CT scan to look for adrenal/pituitary adenoma. CXR
dexamethasone supression - failure to suppress. ACTH levels for 1 vs 2
Mx Cushings
Transsphenodial surgery for pituitary adenoma
Reduce exogenous steroids
Bilateral adrenalectomy
Treatment of ectopic
Causes adrenal insufficiency
1st - Addisons
2nd - AI, TB and AIDS, Malignancy - breast, lung and kidney, Infarction, Waterhouse fredreich ( meningoccal sepeticima) . Amyloidosis and haemochromatosis. Post radiotherapy/ surgery
Adrenal crisis
Medical emergency PC hypovolemic shock, abdominal pain, hypoglycaemia, hypotension, confusion, dysarthria
Mx adrenal crisis
IV fluids 0.9% NaCl, 100mg IV hydrocortisone, correct hypoglycaemia. ECG to check for arrhythmias due to low K+
Inx adrenal insufficiency
low Na+, high K+
high ESR, urea
serum cortisol @ 9am >580nmol
short synacthen test failure to respond.
PC adrenal
hypoglycaemia, postural hypotension, N/V, abdo pain, wt loss, malaise, weakness, low Na+, K+
hyper pigmentation of buccal mucosa due to high ACTH
Differentiation of 1st and 2nd adrenal failure
1st - high acth, high renin, low cortisol
2nd - low acth, low renin
Causes of hyperaldosteronism
1 - Conn’s syndrome (adrenal adenoma), bilateral adrenal hyperplasia, adrenal adenoma
2 - chronically increased renin levels due to HF, cirrhosis, renal artery stenosis, nephrotic syndrome
PC hyperaldosteronism
asymptomatic - hypertension, low K+, high Na+, metabolic alkolosis
Inv hyperaldosteronism
CT of kidneys looking for adenoma/ hyperplasia
fludrocortisone suppression test
renin:aldosterone (high in 2ndary disease) low renin due to -ve feedback in 1 disease
Mx hyperaldosteronism
potassium sparing diuretics
adrenal adenalectomy for Conn’s
Causes of hypothyroid
AI - atrophic thyroid, Hashimotos Iodine deficiency Infection Sarcoidosis, neoplasm Post surgery, radioiodine, drug induced - amiodarone, lithium
PC hypothyroid
wt gain, depression, cold intolerance, fatigue, weakness, low IQ, hypertension, pleural effusions, anaemia
dry hair, skin, loss of our 1/3rd eyebrow
bradycardia, constipation, carpal tunnel syndrome
SIADH, peripheral oedema
Hashimotos
AI condition antiTPO +ve. Progressive lymphocytic infiltration and fibrosis of thyroid tissue leads to dysfunction. PC = firm rubbery goitre
TFT’s hypothyroid
1 - high TSH, low T4
2 - low TSH, low T4
subclinical disordered TFTs asymptomatic pt
Mx hypothyroid
levothyroxine used to replace titrate up using
1 - TSH levels
2 - T4 level @ upper limit
PC hyperthyroid
sweating, wt loss, increased appetite, tachycardia, AF
altered mood, irritable,
diarrhoea, polyuria, fine tremor
palmar erythema, congestive HF, muscle wasting, palmar erythema
Causes of hyperthyroid
Graves, toxic multi nodular goitre, toxic adenoma,
TSHoma
Graves specific
thyroid acropatchy - clubbing dermapathy @ pre tibal sites exophthalmus and lid retraction gritty eye movement and periorbital oedema \+ve TRab antibodies
SE of carbimazole
common = urticaria and rash rare = agranulocytosis 2-8wks post commencement of treatment
Mx hyperthyroid
Graves = block and replace carbimazole and levothyrozxine
TSHoma - transphenoidal surgery
TMN - radioactive iodine
propanolol for symptomatic relief
Thyroid storm PC
PC - tachycardia, high output HF, hyperthermia, vomiting and diarrhoea, jaundice, renal failure, arrhythmias
PCOS
irregular menses, sub fertility, 12+ cysts on USS, acne and hirsutism
PC hypogonadism
Males - erectile dysfunction, osteopenia, low body hair, libido and muscle bulk
Females - infertility, amenorrhea, osteoporosis
Male hypogonadism
1 - Kleinfelters, Noonans, orchitis post mumps, trauma
2 - Kallman syndrome, increased stress, exercise,
Prader willi, haemochromatosis
Iatrogenic - anabolic steroid use
Subclinical thyroid disease
asymptomatic, deranged TFT’s
Causes of hyperprolactinaemia
Dopamine inhibits prolactin secretion. High oestrogen and TRH levels stimulate its production from the pituitary.
- Physiological = pregnancy, lactation, stress
- Pathological
drugs - metaclomprimide, COCP, TCA, methyldopa,dopamine antagonists,
cirrhosis, renal failure, hypothyroidism, prolactin secreting pituitary adenoma
PC hyperprolactinaemia
F - galactorrhea, anovulatory amenorrhoea
M - gynecomastia, erectile dysfunction
Mx prolactinoma
dopamine agonists - bromocriptine lead to reduced secretion and shrinkage of tutor. surgery only needed id symptoms of mass effect
serum prolactin > 500
Acromegaly
99% caused by GH producing pituitary adenoma
PC acromegaly
gradual and progressive sweating, tiredness and fatigue
facial features - frontal bossing, enlarged nose, macro glossia, wide dental spacing, coarse features
soft tissue swelling, large hands and feet
organomegaly
OA and carpal tunnel
Complications of acromegaly
HTN and DM - increased CVD risk
visual field defects
high risk of CRC and breast cancer
obstructive sleep aponea
Inv and Mx Acromegaly
high IGF-1, OGTT = failure to suppress GH <1ml
MRI of brain
high glucose, calcium and phosphate
transphenoid surgery / somastatin analogues
PC diabetes insipidus
PC - polyuria, polydipsia, dehydration
hypernatremia
Pathophysiology of DI
Lack of ADH leads to low levels of aquaporin channels inserted into collecting ducts. This gives rise to a failure to concentrate urine hence excessive diuresis
Causes of DI
Cranial - Trauma, pituitary tumors, Sheenan’s syndrome, meningitis. All lead to reduced production of ADH from post pituitary
Nephrogenic (poor response to ADH) PCKD, amyloidosis, CKD, low K+, high ca2+
Dipsogenic - over consumption of h20
Mx DI
synthetic ADH analogue (desmopressin) only effective for cranial causes.
Inv DI
fluid deprivation test can rule out dipsogenic causes
desmopressin trial will lead to normalisation of urine output in those with a cranial cause
Calcium physiology
Low ca2+ is detected stimulating PTH release from parathyroid. This stimulate osteoclast activity to increase Ca2= reabsorption. It also increase absorption in the proximal and distal collecting tubules. Allows calcitriol to convert vit D to 1,25 dihydroxy to increase Ca2+ absorption from the gut
High Ca2+ parafollicular cells produce calcitonin to reduce absorption from the kidney and gut, and suppress osteoclast activity.
Hypercalcemia PC
thirst, polyuria - renal stones weakness, myalgia - bone pain anorexia and constipation - abode groans mood change, confusion - psych moans pathological #
Some of the symptoms are due to Na+ channels on synapses being less likely to open leading to reduced excitability. To compensate calcium is excreted in the urine and can precipitate to form stones
Causes of hypercalcemia
Malignancy - myeloma, PTHrp secretion Renal failure Sarcoidosis Hyperparathyroidism Addisons, phaechromocytoma, hypothyroid Drugs - thiazide diuretics
Inv hypercalemia
high PTH - hyperparathyroid, PTHrp
low PTH - secondary causes
- normal ALP = myeloma, sarcoid
- high ALP = bone mets, hyperthyroid
Acidosis and hypoalbuminea
In acidosis high concentration of H+ in blood leads to albumin repelling Ca2+ reducing albumin bound calcium
In hypoalbuminemic states leads to reduced total calcium as apporx 50% is protein bound
Hyperparathyroidism
Post menopausal women, 50-70 y/o
Always look for link to MEN 1 and 2
85% benign parathyroid adenoma
PC hyperpararthyroid
asymptomatic for long periods
HTN due to renal calcification
stones, moans, groans and bones
Secondary hyperparathyroidism
vit D deficiency, chronic renal failure
Complications of hyperparathryoid
Osteoporosis @ hip/wrist Renal stones and nephrocalcinosis corneal calcification pseudo gout CVD and IHD due to calcification and renal failure
Inv hyperparathyroid
high PTH, Ca2+, ALK phos, low phosphate
CT scan of parathyroid
Mx hyperparathyroid
Surgical removal
hydration and monitoring
calcinmet - Ca2+ receptor agonist
Osteitis fibrosis cystica
Advanced hyperparathyroidism leads to loss of bone mass and replacement with fibrous tissue formation of cyst like brown tumors. Characteristic on X-ray
Hypercalcemia of malignancy
Poor prognosis - 6 months.
20% - Local invasive osteolytic lesions this can present with bone pain, pathological # and MSCC. Due to myeloma, metastatic breast and lung cancer
80% - Humoral hypercalcemia due to production of PTHrp. This antagonises PTH binding to its receptors leading to increases osteoclast activity and hence CA2+ levels in the blood. Imvx - low PTH and vit D activity
Caused by squamous cell cancers, renal cervix, lung, bladder and oesophageal
Myeloma
Cancer arising from B cells uncontrolled production of paraprotein. Produces osteoclast activation factors which leads to increase osteoclast activity and hence bone weakness.
PC - CRAB, high Po4, high Ca2+, normal ALP
Hyperviscosity syndrome
increase blood viscosity due to polycythemia, myeloma or leukaemia. PC - epistaxis, gum bleeding, headaches, visual changes and hearing loss
Hypocalcemia PC
parathesia or extremities, carpopedal spasm, seizures, muscle twitching, anxiety and irritability. increased muscle tone - colic, dysphagia, stridor
Due to voltage gated Na+ depolarising more easily leading to involuntary muscle contraction
Causes of hypocalcemia
Chronic renal failure, osteoporosis, vit D defiency, hypoparathyroidism, rhabdomylosis, drug induced - bisphosphanates
Alkalosis leads to pseudo hypocalcemia due to less H+ ions so negatively charged albumin binds to Ca2+
Signs of hypocalcemia and Mx
Trousseaus - muscle cramps and twitching on application of BP cuff
Chvostek’s - facial twitch when tapped over parotid gland
ECG - prolonged QTc
low Ca2+
Mx - vit D replace, calcium gluconate
Causes of hypoparathyroidism
Surgical removal
Di george - congenital abnormality of pharyngeal pouch formation
AI
Haemochromatosis
Renal failure and hypocalcemia
failure to hydroxylate vit D = reduced Ca2+ absorption from gut
failure to excrete phosphate which binds to Ca2+
Inv hypoparathyroid
low PTH, low Ca2+, low Po4
Osteoporosis
T score 2.5 = diagnostic. reduced bone mass with normal architecture seen clinically with low impact fragility fractures.
Bone mineral density
Measured with DEXA scan. Z score = age matched. T score = race, sex of peak adult
Risk factors for osteoporosis
1 - age, female, smoking + alcohol, low BMI,
2 - renal failure, drugs - steroids, heparin, malabsorption - coeliac, endocrine - cushings, high PTH, hypogonadism
PC fractures in osteoporosis
colles fracture - wrist outstretched hand
#NOF
wedge vertebral fracture
Mx osteoporosis
increase wt bearing exercise - tia chi, swimming
loose wt, stop smoking, reduce alcohol
Ca2+ and vit D supplementation
bisphosphanates
Diagnosing T2DM
symptoms - wt loss, polyuria, polydypsia +
- random glucose >11.1
- fasting glucose >7.0
- 2hr OGTT > 11.1
- Hba1c > 48
If no symptoms 2 x samples over 2 weeks
When not to use HbA1c
Renal failure/ haemolytic anaemia due to improper glycosolation of Hb
Acutely unwell
Rapidly changing, gestational or young
Risk factors for T2DM
FHx, obesity, PCOS, low exercise, low socioeconomic status, asian, HTN, hyperlipidemia
PC T1DM
wt loss, polyuria, polydipsia, DKA, BMI<25, often adolescent (before 50y/o)
6% chance of son T1DM if father
Pathogenesis DKA
inability to produce insulin due to destruction of the B islet cells in the pancreas. This lead to reduced glucose utilisation by tissue so levels in the blood increase. Proteolysis and lipolysis occur to find an alternative source for glucose, the break down of lipid yield free fat acids which give rise to ketones causing acidosis. High levels of glucose lead to an osmotic diuresis and hence volume depletion and electrolyte disturbance
Autoantibodies T1DM
Only used if unusual presentation, appear before onset 95% of children are +ve for GAD,ICA
C peptide - breakdown product of insulin can be used a surrogate marker of insulin production
Gestational diabetes
randome plasma glucose > 5.6
fasting glucose > 7.8
Screening with OGGT for those with BMI>30, PHx of gestational diabetes, macrocosmic baby, FHx,
Risks of gestational diabetes
Preg - eclampsia, still birth after 37wks, congenital abnormalities, IUGR, macrosomia
Mum - PPH, C-section/instrumental delivery, traumatic birth
Baby - hypothermia, hypoglycaemia, jaundice, shoulder dystocia,
MODY
PC - young age of onset, often incidental hypoglycaemia, lack of metabolic syndrome, can present with classical DM presentation
- Glucokinase (32%)
- Transcription factors (68%)
Insulin secretion
High levels of glucose reacts with the glucose receptor on the surface of the B islet cell. The enter the cell and are converted to glucose 6 phosphate by glucokinase. This provides ATP for K+ channels to open allowing insulin secretion to lower glucose levels.
Glucokinase MODY
Loss of function impairs glucose sensing by increasing threshold needed for insulin secretion.
PC - incidental findings/gestational diabetes, persistent high fasting glucose, no microvascular complications or extra pancreatic features
Mx - test parents/family
Transcription factor MODY
Role of B cell development genes
- HNF-1a and HNF-4a
- HNF-1B
HNF-1a and HNF-4a
PC - normoglycemia in childhood, develop hyperglycaemia in adolescent years, poor control can lead to complications
Mx - low dose sulponhylurea - glicazide
HNF-1B
PC renal cysts and diabetes, often co existing pancreatic and genitourinary abnormalities.
Mx - 50% may need dialysis, insulin
DIDMOAD
diabetets insipidus, diabetes mellitus, optic atrophy and deafness
Genetic conditions linked to DM
Downs
Turners - AI T1DM
Prader-willi - obesity and insatiable appetite
Kleinfelters - high truncal fat and insulin resistance
Neonatal diabetes
PC - birth to 6 months, often with IUGR, high glucose levels or DKA. Low C-peptide. Mutation @ B islet cells with the K+/ATP channel
Permanent neonatal diabetes
More severe form complete failure of insulin release K+ channel permanently open preventing insulin release. Need precise insulin therapy from birth. Often neurological involvement.
PC insulin resistance syndromes
persistent hyperglycaemia, acanthosis nigricans, PCOS,
Lipodystrophy syndromes
FPLD1= Loss of limb fat, increased truncal fat FPLD2= loss of fatty tissue from the torso, buttocks, and limbs and a buildup of fat in the face, neck, shoulders and abdomenn
HIV and diabetes
4x increased risk in those related with HAART. Increased incidence of insulin resistance and diabetes
Small cell vs NSCLC
Small cell - ectopic ACTH, ADH, lamber eaton mesenteric syndrome
NSCLC - clubbing, hypercalcemia (PTHrp), hypertrophic osteoarthropathy
Differential of a neck lump
Lymphoma/ metastasis Lymphadenopathy - infection Thyroid cancer goitre thyroglossal cyst
Premature ovarian failure
low AMH, HRT essential until 50y/o to prevent osteoporosis. Progesterone replacement to prevent endometrial hyperplasia.
Phaechromocytoma
adrenal medullary catecholamine secreting tumour
PC hypertension, heat intolerance, sweating
headache palpitations, chest pain
Inv and Mx phaechromocytoma
plasma metanephrines, CT renal.
?MEN
alpha blockers to reduce symptoms
surgery to resect tumour - v tricky high vascular and can lead to mass adrenaline release
HAART and Cushings
CYP450 inhibitors leading to reduced breakdown of steroids can induce Cushings syndrome
Adrenal crisis
Anyone on long term steroids who is unwell PC hypotension, reduced GCS and abod pain. IV hydrocortisone stat. Fluids won’t improve due to lack of ADH and angiotensin II
De Quervains thyroiditis
PC - sore throat, tremor, painful swollen neck
triggered by viral illness - mumps, influenza
Initial phase = follicular destruction - hyperthyroid T4 release. 2ndary hypothyroid due to inflammation and -ve feedback. globally reduced uptake on DAT
Differentials of goitre
De quervians - painful goitre
TMN - nodular goitre widespread nodular uptake on sean
Toxic adenoma - hot spot on scan
Thyroglossal cyst - tethered moves forward on tongue protrusion
Graves - diffuse goitre +/- bruit, Graves eye signs, acropatchy, pre tibal dermopathy
MEN 1
parathyroid neoplasia, pituitary adenoma (often prolactinoma), pancreatic tumours - zollinger elision etc
MEN 2A
medullary thyroid cancer, parathyroid hyperplasia, phaechromocytoma
MEN 2B
medullary thyroid cancer, phaechromcytoma, marfainoid body habitus + muscosal neuromas
PC thyroid cancer
often euthyroid, lump in neck often painless, cervical lymphadenopathy. symptoms of mass effect i.e. SVC obstruction, dysphagia
Anaplastic thyroid cancer
very poor prognosis, rare rapid undifferentiated growth local lymph and blood spread
Papillary thyroid cancer
80% of cancer linked to radiation exposure, FAP and cowden syndrome. 20-40y/o Mx total thyroidectomy 95% 5yr survival
Bartter syndrome
Consists of a metabolic alkalosis, hypokalemia, hypercalciuria and occasionally hypomagnesaemia. Presents clinically similar to treatment with loop diuretics
Defect in the Na+/K+/Cl- cotransporter in thick ascending loop of Henle. The Na+ loss leads to volume depletion and RAS activation, increased aldosterone = K+ secretion hence hypokalemia and metabolic alkalosis (increased H+ loss)
Gietlman syndrome
Consists of a metabolic alkalosis, hypokalemia, hypocalciuria and hypomagnesaemia. Present clinically similar as treatment with thiazide diuretics.
Defective Na+/Cl- cotransporter. As with Bartter syndrome increase Na+ delivery to the collecting duct leads tot RAS activation, increased aldosterone production and a reflex hypokalemia and metabolic alkalosis
Hypocalciuria due to continued Cl- efflux hyperpolarises the basolateral membrane leading to Ca2+ reabsorption
MODY gluokinase
lack of extrapancreatic features and symptoms, mild fasting hyperglycaemia family history of a similarly mild diabetic illness. These patients mostly do not require treatment.
GCK - glucokinase
Hypogonadotrophic hypogonadism
Caused by structural (adenoma), infiltrative -haemochromatosis, Kallman’s - no GnRH, functional gonadotrophin deficiency due to stress, excess exercise,
Hypergonadotrophic hypogonadism
Turners , kleinfelters. Primary abnormalities with the testes. Mumps, infections
Congenital Generalised Lipodystrophy
Autosomal recessive and very rare. Presents with a generalised absence of adipose tissue, increased appetite, absence of leptin and DM develops within 10-20 years. Is most common in females who can present with acanthosis nigricans, hepatomegally, PCOS and insulin resistance.
