Endocrinology Flashcards
Liddle’s syndrome
Liddle’s syndrome isa genetic disorder characterized by hypertension with hypokalemic metabolic alkalosis, hyporeninemia and suppressed aldosterone secretionthat often appears early in life. It results from inappropriately elevated sodium reabsorption in the distal nephron.
Mutation in epithelial sodium channel
Bartter syndrome
Bartter syndrome(BS) is a rare inherited disease characterised by a defect in thethick ascending limbof theloop of Henle, which results in low potassium levels (hypokalemia),[2]increased blood pH (alkalosis), and normal tolow blood pressure. There are two types of Bartter syndrome: neonatal and classic. A closely associated disorder,Gitelman syndrome, is milder than both subtypes of Bartter syndrome.
Conn syndrome
Primary aldosteronism(PA),also known asprimary hyperaldosteronismorConn’s syndrome, refers to the excess production of thehormonealdosteronefrom theadrenal glands, resulting in lowreninlevels and high blood pressure
MEN2A
Parathyroid hyperplasia
Medullary thyroid carcinoma
Pheochromocytoma
RET mutation
chromosome 10
MEN2B
Mucosal neuromas
Marfanoid body habitus
Medullary thyroid ca
Pheochromocyotoma
Mutation in RET
Chromosome 10
MEN1
Pituitary adenoma
Parathyroid hyperplasia
Pancreatic tumours
hypercalcaemia (all MEN)
Mutation in menin
Chromosome 11
MODY
HNF1 alpha
Chromosome 12
reduced beta cell mass and defective insulin release
Thyroid storm
Thyroid stormis a rare but severe and life-threatening complication ofhyperthyroidism. It occurs when overactivethyroidactivity leads tohypermetabolism, the end result being death fromcardiac arrestor multipleorgan failure.[2]
It is characterized bya high fever(temperatures often above 40°C/104°F),fastand oftenirregularheart beat, elevated blood pressure,vomiting,diarrhea, andagitation.Hypertensionwith a widepulse pressureoccurs in early to mid crisis, withhypotensionaccompanyingshockoccurring in the late stage.
Familial hypertriglyceridaemia
trigliceride but not cholesterol levels elevated as result of excess hepatic production of VLDL
Autosomal dominant, associated with moderate elevation of serum triglicerides
what compound causes mild lingering acidosis once DKA resolved?
beta-hydroxybutyrate
management of SVT in pheochromocytoma
alpha blocker
Phenoxybenzamine
Investigation for hyperaldosteronism
Saline suppression test
Also present with low renin, hypocalaemia and high plama aldosterone
If aldosterone above 550 pmol/l and renin below detection level and hypokalaemia then no need for saline suppression
hallmarks of diabetic retinopathy
microaneurysms,intraretinalhemorrhage, exudates, cotton-wool spots, macular edema, macular ischemia, neovascularization, vitreous hemorrhage, and traction retinal detachment.
diagnostic features of HHS
Plasma glucose >30
Serum osmolality >320
Dehydration
Serum pH >7.3
Bicarb >15
Small or absent ketones
Some altereation on consciousness
Riedel’s thryoiditis
chronic inflammatory disease of thyroid with dense fibrosis that replaces normal thyroid parenchyma
Tx corticosteroids and tamoxifen
Familial hypocalciuric hypercalcaemia (FHH)
high serum calcium, low urinary calcium
autosomal dominant
mutation in CaSR gene (Ca sensing receptor)
lack of ca level sensing leads to high PTH and Ca; PTH can be normal
Gliclazide
associated with hypoglycaemia
Sulfonylurea, acta as insulin secretagogue
Sitagliptin
DPP4 inhibitor
Inhibits DPP4 gut enzyme which breaks down GLP1 hormone release after eating
GLP1 stimulates insulin sectretion in glucose dependent manner
acromegaly medical management
cabergoline
+ somatostatin analogues such as octreotide and lanreotide
complete androgen insensitivity syndrome
XY
female external genitalia
testes present as inguinal hernias in infants
cryptochidism
in partial androgen insensitivity clitoromegaly can be present
Causes of hypercalcaemia
Primary and tertiary hyperparathyroidism
Lithium
Malignancy
Thiazide
Paget’s disease
Familial benign hypocalciuric hypercalcaemia
Myxoedema coma
severe hypothyroidism
Hypothermia, high TSH, low T4, resp failure
Tx triiodothyronine (T3) via NG or IV, slow as risk of cardiovasc failure
supportive also hydrocortisone, glucose IV and O2 therapy
DKA features
ketonaemia >3
glucose >11
bicarb <15 or pH <7.3
Addisons disease
Hypotension
Hyponatraemia
Hyperkalaemia
primary hypoadrenalism
Addisonian crisis
Hypotension
Hyponatraemia
Hyperkalaemia
abdo pain,back pain, hypoglycaemia, hypercalcaemia
stst IV hydrocortisone 100mg, fluid resus, then 200mg hydrocortisone/24h,
