Endocrinology

Question 1

Liddle’s syndrome

Answer 1

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

Question 2

Bartter syndrome

Answer 2

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.

Question 3

Conn syndrome

Answer 3

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

Question 4

MEN2A

Answer 4

Parathyroid hyperplasia
Medullary thyroid carcinoma
Pheochromocytoma

RET mutation
chromosome 10

Question 5

MEN2B

Answer 5

Mucosal neuromas
Marfanoid body habitus
Medullary thyroid ca
Pheochromocyotoma

Mutation in RET
Chromosome 10

Question 6

MEN1

Answer 6

Pituitary adenoma
Parathyroid hyperplasia
Pancreatic tumours

hypercalcaemia (all MEN)
Mutation in menin
Chromosome 11

Question 7

MODY

Answer 7

HNF1 alpha
Chromosome 12
reduced beta cell mass and defective insulin release

Question 8

Thyroid storm

Answer 8

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.

Question 9

Familial hypertriglyceridaemia

Answer 9

trigliceride but not cholesterol levels elevated as result of excess hepatic production of VLDL
Autosomal dominant, associated with moderate elevation of serum triglicerides

Question 10

what compound causes mild lingering acidosis once DKA resolved?

Answer 10

beta-hydroxybutyrate

Question 11

management of SVT in pheochromocytoma

Answer 11

alpha blocker
Phenoxybenzamine

Question 12

Investigation for hyperaldosteronism

Answer 12

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

Question 13

hallmarks of diabetic retinopathy

Answer 13

microaneurysms,intraretinalhemorrhage, exudates, cotton-wool spots, macular edema, macular ischemia, neovascularization, vitreous hemorrhage, and traction retinal detachment.

Question 14

diagnostic features of HHS

Answer 14

Plasma glucose >30
Serum osmolality >320
Dehydration
Serum pH >7.3
Bicarb >15
Small or absent ketones
Some altereation on consciousness

Question 15

Riedel’s thryoiditis

Answer 15

chronic inflammatory disease of thyroid with dense fibrosis that replaces normal thyroid parenchyma
Tx corticosteroids and tamoxifen

Question 16

Familial hypocalciuric hypercalcaemia (FHH)

Answer 16

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

Question 17

Gliclazide

Answer 17

associated with hypoglycaemia
Sulfonylurea, acta as insulin secretagogue

Question 18

Sitagliptin

Answer 18

DPP4 inhibitor
Inhibits DPP4 gut enzyme which breaks down GLP1 hormone release after eating
GLP1 stimulates insulin sectretion in glucose dependent manner

Question 19

acromegaly medical management

Answer 19

cabergoline
+ somatostatin analogues such as octreotide and lanreotide

Question 20

complete androgen insensitivity syndrome

Answer 20

XY
female external genitalia
testes present as inguinal hernias in infants
cryptochidism
in partial androgen insensitivity clitoromegaly can be present

Question 21

Causes of hypercalcaemia

Answer 21

Primary and tertiary hyperparathyroidism
Lithium
Malignancy
Thiazide
Paget’s disease
Familial benign hypocalciuric hypercalcaemia

Question 22

Myxoedema coma

Answer 22

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

Question 23

DKA features

Answer 23

ketonaemia >3
glucose >11
bicarb <15 or pH <7.3

Question 24

Addisons disease

Answer 24

Hypotension
Hyponatraemia
Hyperkalaemia

primary hypoadrenalism

Question 25

Addisonian crisis

Answer 25

Hypotension
Hyponatraemia
Hyperkalaemia

abdo pain,back pain, hypoglycaemia, hypercalcaemia

stst IV hydrocortisone 100mg, fluid resus, then 200mg hydrocortisone/24h,