MEN

Question 1

What are MEN syndromes

Answer 1

In these syndromes there are functioning hormone production tumours in multiple organs

Question 2

How do you get MEN syndrome

Answer 2

Inherited autosomal dominant

Question 3

What MEN syndromes are there

Answer 3

MEN-1,2
Neurofibromatosis
Von-hippie-lindau
Peutz-jeghers syndromes
Carney complex

Question 4

What is involved in MEN-1

Answer 4

Parathyroid hyperplasia/adenoma
Pancreas endocrine tumours - gastronomy, insulinoma, rarely somatostainoma, VIPoma, glucagonoma,
Pituitary prolactinoma, GH secreting tumour, adrenal and carcinoid tumours are associated

Question 5

What type of gene is the MEN-1 gene

Answer 5

Tumour suppressor gene

Protein Menin alters transcription activation

Question 6

What is caused by MEN-2a

Answer 6

Thyroid - medullary thyroid carcinoma
Adrenal - phaeochromocytoma
Parathyroid hyperplasia

Question 7

What organ involvement in there in MEN-2b

Answer 7

Same as 2 a - thyroid, and adrenal
Also mucosal neuroma, an Marfinoid appearance
No hyperparathyroidism

Question 8

What is the gene involved in MEN2a and 2b

Answer 8

Rest proto-oncogene

Receptor tyrosine kinase

Question 9

What are autoimmune polyendocrine syndromes

Answer 9

They are autosomal disorders cluster into 2 define groups
Type1: autosomal recessive (rare) - cause mutation in AIRE (auto immune regulator) gene
Features: Addison’s disease, chronic mucocutaneous candidiasis more but wont remember anyway
Type 2 - HLAd D3 and D4 linked common and polygenetic
Features : Addison, T1DM, autoimmune thyroid disease, nd other autoimmune conditions