Fun Endo Facts AB

Question 1

What percentage of patients with Grave’s disease will develop thyroid eye disease?

Answer 1

Thyroid eye disease affects between 25-50% of patients with Graves’ disease.

Question 2

What are the causes of central diabetes insipidus?

Answer 2

Idiopathic
Post head injury
Pituitary surgery
Craniopharyngiomas
Histiocytosis X
DIDMOAD (Wolfram's syndrome)
- the association of cranial Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy and Deafness

Question 3

What are the causes of nephrogenic diabetes insipidus?

Answer 3

Genetic: affecting ADH or AQP2 channel
electrolytes: hypercalcaemia, hypokalaemia
drugs: demeclocycline, lithium
tubulo-interstitial disease: obstruction, sickle-cell, pyelonephritis

Question 4

What are the clinical features of carcinoid syndrome?

Answer 4

Flushing
Diarrhoea
Bronchospasm
Pellagra
Tricuspid regurgitation

Question 5

Autoimmune polyendocrine syndrome - what are the genetic abnormalities in type 1 and type 2?

Answer 5

Type 1 - Autosomal Recessive, AIRE gene on Ch 21

Type 2 - Polygenic, HLA-DR3 / DR4 association

Question 6

Autoimmune polyendocrine syndrome - what are the clinical features of type 1?

Answer 6

Hypoparathyroidism (hypocalcaemia)
Addison’s disease
Chronic mucocutaneous candidiasis

Question 7

Autoimmune polyendocrine syndrome - what are the clinical features of type 2?

Answer 7

Addisons + either:

T1DM or Autoimmune Thyroid Disease

Question 8

Pegvisomant is used in the treatment of acromegaly. What is its mechanism of action?

Answer 8

Growth hormone receptor antagonist

Question 9

What is the mechanism of Carbimazole?

Answer 9

Carbimazole blocks thyroid peroxidase from coupling and iodinating the tyrosine residues on thyroglobulin → reducing thyroid hormone production

Question 10

What are the common genetic defects in MODY?

Answer 10

HNF1 alpha - commonest

Glucokinase gene

Question 11

How do you treat MODY?

Answer 11

Sulfonylureas effective in most common form

Insulin not usually required

Question 12

How do you investigate for an insulinoma?

Answer 12

Supervised fasting (best)

Insulin and C peptide levels during an episode (alternative)

Question 13

What is Pendred’s syndrome?

Answer 13

Autosomal recessive disorder of iodine uptake

Characterised by:
Sensorineural hearing loss
Goitre
Euthyroid or mild hypothyroidism