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Multiple endocrine neoplasia (MEN)

The MEN syndromes are a group of genetic syndromes inherited in an autosomal dominant manner.


They comprise of:

  1. MEN l & 2
  2. Von Hippel Lindau syndrome.
  3. Peutz-Jeghers' syndrome
  4. Carney complex: This consists of spotty skin pigmentation, schwannomas, myxoma of skin, mucosa or heart (especially atrial myxoma), and endocrine tumours: eg pituitary adenoma, adrenal hyperplasia, testicular tumour. 

MEN type-l: (Werner syndrome) (AIPG 10) (LQ 2012)

  1. Parathyroid hyperplasia/adenoma (most common feature).
  2. Pancreatic endocrine tumours -usually gastrinoma
  3. Pituitary adenoma  

MEN 2a: Sipple syndrome (LQ 2012)               

  1. Thyroid: Medullary thyroid carcinoma       
  2. Pheochromocytoma                  
  3. Parathyroid hyperplasia                   

MEN 2b(LQ 2012) 

  1. Thyroid: Medullary thyroid carcinoma
  2. Pheochromocytoma 
  3. Mucosal neuromas and Marfanoid appearance

IMPORTANT POINTS: Cutaneous findings in:

  1. MEN-I :-
  2. Cutaneus angio fibromas              
  3. MEN –2a :- Cutaneous lichen amyloidosis.
  4. MEN 2b :- Cutaneous neuromas. 

Extra Edge:

  1. MEN-I is caused by MEN-I gene which is a tumour suppressor gene. Menin, its protein alters transcription activation.
  2. Gene involved in MEN 2a and 2b is RET – proto oncogene, a receptor tyrosine kinase.
  3. RET mutation do not contribute to parathyroid tumor.

Von Hippel - Lindau disease (VHL)

It is a autosomal dominant, characterize by abnormal angiogenesis, leading to retinal angioma, CNS hemangioblastoma, pheochromocytoma & renal cell carcinoma. (AIIMS May 11)


Autoimmune polyendocrine syndromes


Autoimmune disorders cluster into two defined syndromes:


Type 1: (APECED Syndrome) Autosomal recessive, due to mutation in AIRE (Auto immune Regulator) Gene in chromosome 21.



  1. Addison's disease                          
  2. Hypoparathyroidism
  3. Type 1 diabetes                                
  4. Primary hypothyroidism 
  5. Chronic mucocutaneous candidiasis              
  6. Nail dystrophy
  7. Dental enamel hypoplasia

Important Points: APECED Syndrome:- Autoimmune Poly Endocrinopathy Candidiasis Ectodermal Dystrophy


Type 2: (Schmidt's syndrome) DR3 & DR4 linked (common)



  1. Addison's disease
  2. Primary hypothyroidism
  3. Graves' disease
  4. Pernicious anaemia
  5. Primary hypogonadism
  6. Type 1 diabetes
  7. Vitiligo
  8. Coeliac disease
  9. Myasthenia gravis

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