Multiple Endocrine Syndromes

Question 1

MEN syndromes

Answer 1

MEN-1 and 2
Neurofibromatosis
Von Hippel-Lindau
Peutz-Jeghers
Carney complex
Endocrine tumours

Question 2

MEN-1 features

Answer 2

PT hyperplasia/adenoma
Pancreas endo tumours
Pituitary prolactinoma/GH secreting tumour

Question 3

MEN-1 gene function

Answer 3

MEN-1 gene is tumour suppressor

Menin alters transcription activation, present in 3rd-5th decades

Question 4

MEN-2a features

Answer 4

Medullary thyroid carcinoma (in 100%)
Phaeochromocytoma (~50%), usually benign and bilateral
Parathyroid hyperplasia (~80%, but less than 20% have raised Ca)

Question 5

MEN-2b features

Answer 5

MEN-2a features + mucosal neuromas (bumps on lips, cheeks, tongue, eyelids, glottis) + Marfanoid appearance
No hyperPT unlike MEN-2a

Question 6

MEN-2 gene function

Answer 6

Receptor tyrosine kinase proto-oncogene, tests for mutations allow prophylactic thyroidectomy before neoplasia before 3yrs old

Question 7

Autoimmune polyendocrine syndrome type 1 features

Answer 7

Addison’s
Chronic mucocutaneous candidiasis
Hypoparathyroidism

Question 8

Autoimmune polyendocrine syndrome type 1 genetics

Answer 8

Autosomal recessive, rare

Due to AIRE (autoimmune regulator) gene mutations on chromosome 21

Question 9

Autoimmune polyendocrine syndrome type 2 features

Answer 9

Addison’s
T1DM (20%)
Autoimmune thyroid disease

Question 10

Autoimmune polyendocrine syndrome type 2 genetics

Answer 10

Polygenic

HLA D3 and D4 linked