Endocrinology, diabetes and metabolic medicine

Question 1

Osteoporosis treatment

Answer 1

1. Bisphosphonates 2. If not tolerated, then denosumab (RANK ligand inhibitor, 6 monthly injection) 3. Teriparatide alternative to densumab but daily injection 4. Raloxifene (not as effective as the ones above but reduces Breast Ca risk) 5. Strontium ranelate last because increase DVT risk

Question 2

MODY gene defects

Answer 2

MODY 2 and 3 most common 2 -> glucokinase mutations 3 -> HNF alpha mutation, very responsive to sulfonylurea

Question 3

Turner Syndrome karyotype and presentation

Answer 3

XO karyotype. Short stature, borderline hypertension, short neck, low set ears, primary amenorrhoea + other congenital abnormaltieis, such as horseshoe kidney or bicuspid aortic valve

Question 4

Kallmann’s syndrome

Answer 4

Absent sense of smell due to lack of development of olfactory bulb

Question 5

Bilateral undescended testis associations

Answer 5

XY karyotype but androgen insensitivity syndrome. Female external genitalis

Question 6

Klinefelter Syndrome karyotype and presentations

Answer 6

XXY karyotype. Male genitalia (small testis), low testosterone and toruble entering sexual relationship

Question 7

HRT in woman with amenorrhoea for less than 1 year

Answer 7

sequential rather than continuous (if no risk factors for breast cancer)

Question 8

Abnormal anion gap indicators

Answer 8

([Na+]+ [K+]) –([Cl–]+ [HCO3–]) A normal value is 3-16 High anion gap: KARMEL Ketones Aspirin (and paracetamol, and other toxins) Renal Failure Methanol Ehylene Glycol Lactate Normal anion gap acidosis: Diarrhoea Renal tubular necrosis High volume IV saline Addisons

Question 9

Solitary toxic nodule treatment

Answer 9

Treatment dose radioiodine for those who finished family PArtial thyroidectomy for those where radioiodine is CI (e.g. small children)

Question 10

First line treatment in Paget’s

Answer 10

IV zoledronate now over oral risedronate

Question 11

In DKA, what product is kept in the body longest?

Answer 11

Acetone, acetoacetate and beta-hydroxybutyrate formed. Only acetoacetate levels do not drop rapidly.

Question 12

What does hashimoto’s put you at an increased risk of?

Answer 12

60x risk of thyroid lymphoma. Rapidly enlarging mass with blurred margins USS and biopsy are the appropriate next steps

Question 13

Diagnostic testing in Cushings

Answer 13

Phase 1 Screening tests: a) raised free urinary cortisol (easiest) b) overnight low dose dexamethasone suppression test c) salivary late night cortisol Phase 2 diagnostic test: 48 hour dexamethsone suppresstion test and measurement of serum ACTH levels ACTH should be suppressed in adrenal disease Phase 3: If ACTH stayed high on 48hr testing, now need to differentiate between ectopic source or pituitary. Do high dose test -> if manipulation of ACTH levels then likely pituitary.

Question 14

Hormone under constant inhibition?

Answer 14

Prolactin is under constant inhibition from dopamine

Question 15

What treatment can worsen graves’ opthalmopathy?

Answer 15

Radioiodine, unclear mechanism Prednisolone can be used for decompensated graves eye disease

Question 16

Hypoparathyroidism and pseudo(pseudo)hypoparathyrodissm

Answer 16

HypoPTH: normal renal function in light of hypocalcemia, hyperphosphataemia and low PTH -> congenital will present with short stature, chronic muscle pain and weakness

Pseudo-> resistance to PTH so PTH levels will be high.

Question 17

Types of hyperparathyroidism

Answer 17

Question 18

Biochemical picture hyperparathyroidism

Answer 18

Question 19

Classical congenital adrenal hyperplasia presentation vs non-classical

Answer 19

CCAH: Normal pubic and axillary hair but ambigious genitalia/clitoromegaly and salt wasting in extreme cases

NCCAH: precocious puberty and androgenisation/subfertility in later years. No salt wasting

Question 20

Lithium and thyroid

Answer 20

Lithium often causes hypothyroid within 2 years of starting. Start thyroxine and continue lithium

Question 21

TOurette tx

Answer 21

Start risperidone

Question 22

Thyroid eye disease tx

Answer 22

rituximab

Question 23

Diabetes manangement

Answer 23

DPP4 is used when BMI is obese

SGLT2 is used when heart failure

If triple therapy fails, consider use of GLP-1 mimetic or insulin based treatment

Question 24

Types of MODY

Answer 24

Question 25

Diagnosis of diabetes

Answer 25

Question 26

1st line for prolactinoma

Answer 26

Cabergoline

Question 27

Octreotide used in...?

Answer 27

it's somatostatin analogue and is used in acromegaly and carcinoid syndrome

Question 28

MDMA OD hyperthermia tx how?

Answer 28

Mechanical cooling measures Dantrolene used in malignant hyperthermia

Question 29

Primary hyperaldosteronism blood pressure control

Answer 29

Spironolactone (aldosterone antagonist)

Question 30

Rare metabolic diseases and their gene defects

Answer 30

Question 31

Tx papillary thyroid cancer

Answer 31

Question 32

Direct precurosr to oedtradiol

Answer 32

testosterone

Question 33

alsosterone production pathway

Answer 33

Question 34

pathophysiology of thyroid eye disease

Answer 34

Question 35

DiGeorge syndrome

Answer 35

Question 36

Pompe disease

Answer 36

cardiomyopathy, rapid onset muscle hypotonia, weakness, glossomegaly, normal cerebral development. death in first year.

Question 37

PCT which enzyme deficient

Answer 37

porphyria cutanea tarda is uroporphyrinogen decarboxylase deficiency

Question 38

Hallmarks post-partum thyroiditis

Answer 38

High risk in those with positive TPO. triphasic post partum pattern, first six month thyrotoxicosis, then hypothyroidism, then euthyroidism

Question 39

What is the wolff-chaikoff effect and its relevance in cardiology?

Answer 39

Non-radioactive iodine will have have varying effects on hormone production in the two most common causes of hyperthyroidism: 1. Graves - Wolff-chaikoff effect means thyroid hormone production will be suppressed. 2. The nodules will continue to produce increasing levels of thyroid hormone. Iodine containing contrast is used in cardiac catheterization. So ideally before hand you use radionuclide scan to figure out whether you're dealing with graves (good) or TMN goitre (give antithryoid drug before catheterization).