Multiple Endocrine Neoplasia

Question 1

Define Multiple Endocrine Neoplasia (MEN)?

Answer 1

An autosomal dominant condition characterised by a predilection to develop tumours of endocrine glands

Question 2

What is the aetiology of MEN?

Answer 2

Autosomal dominant inheritance

Question 3

What is the pattern of features of MEN 1?

Answer 3

Pituitary adenomas
Parathyroid tumours
Pancreatic islet-cell tumours (and other endocrine tumours of the gastroenterohepatic tract e.g. gastrinomas)
Fascial angiofibromas and collagenomas

Question 4

What is the pattern of features of MEN 2a?

Answer 4

Parathyroid tumours
Medullary thyroid cancer
Phaeochromocytomas

Question 5

What is the pattern of features of MEN 2b?

Answer 5

Same as MEN 2a
Marfanoid apperance
Neuromas of the GI tract

Question 6

What is the epidemiology of MEN?

Answer 6

VERY RARE

Question 7

What are the presenting symptoms and signs of MEN 1?

Answer 7

Age of onset of tumours is usually teenage years
However, symptoms of the tumours may not become apparent for years
Diagnosis is commonly made in the 4th decade of life
Pituitary tumours may cause visual defects

Question 8

What are the symptoms and signs dependent on for MEN 1?

Answer 8

The organs they affect
Hyperparathyrodisim leads to symptoms of hypercalcaemia + nephrolithiasis
Hypergastrinaemia leads to Zollinger-Ellison Syndrome
Hyperinsulinaemia leads to Hypoglycaemia
Hyperprolactinaemia leads to Amenorrhoea
Hypersomatotrophinaemia leads to Acromegaly

Question 9

What are the symptoms of MEN 2?

Answer 9

Symptoms of Medullary thyroid cancer, hyperparathyroidism or phaeochromocytoma, hypercalcaemia

Question 10

What are the Medullary Thyroid Cancer symptoms?

Answer 10

Hypertension
Episodic Sweating 
Diarrhoea 
Pruritic Skin lesions 
Lump in the neck

Question 11

What are the Hypercalcaemia symptoms?

Answer 11

Constipation
Polyuria/polydipsia
Depression
Kidney Stones 
Fatigue

Question 12

What investigations would you do for MEN 1?

Answer 12

Screening first or second degree relatives
Hormone hypersecretion blood tests
DNA testing

Question 13

What investigations would you do for MEN 2?

Answer 13

Phaeochromocytoma test - 24hr urine metanephrines
- Can be followed bt abdominal MRI
Medullary thyroid cancer test - elevated calcitonin concentration
- Can also be invesitigated with US and FNA
Parathyroid tumours - simultaneously elevated Ca2+ and PTH