- NEED HELP? CALL US NOW
- +919995411505
- [email protected]
Multiple Endocrine Neoplasia (MEN) Syndrome
The endocrine system includes glands that make hormones and release them into the bloodstream. Hormones control many processes of the body, including mood, growth and development, metabolism, sexual function and reproduction.
The major endocrine glands that can be affected by MEN syndromes are:
MEN syndromes are often passed down in families.
They can be found in people of any age. About half of the children of people with multiple endocrine neoplasia inherit the disease.
The major endocrine glands that can be affected by MEN syndromes are:
- Pituitary
- Thyroid
- Parathyroid
- Adrenal
- Pancreas
MEN syndromes are often passed down in families.
They can be found in people of any age. About half of the children of people with multiple endocrine neoplasia inherit the disease.
Multiple endocrine neoplasia type 1 (MEN1)
- Multiple endocrine neoplasia type 1 (MEN1), also called multiple endocrine adenomatosis or Wermer's syndrome,
- It is caused by mutations in the MEN1 gene, which is a tumour suppressor gene.
- Mutations of the MEN1 gene "disable" tumour suppression, causing unregulated cell division that leads to tumour formation.
- All children of a parent with MEN1 have a 50% chance of developing the disease.
Multiple endocrine neoplasia type 2 (MEN2)
- MEN2A and MEN2B are caused by mutations in the RET gene.
- People with multiple endocrine neoplasia type 2 (MEN2) have a 95% chance of developing medullary thyroid cancer.
Multiple Endocrine Neoplasia Type 2A (MEN2A):
People with MEN2A often develop:- Medullary thyroid cancer when they are young adults
- Pheochromocytomas (adrenal tumours)
- Hyperparathyroidism
- Cutaneous lichen amyloidosis, an itchy skin condition
Multiple Endocrine Neoplasia Type 2B (MEN2B):
MEN2B may cause:- Medullary thyroid carcinoma in early childhood
- Pheochromocytomas (adrenal tumours)
- Physical characteristics, including being tall and slender
- Small benign tumours on the lips and tongue
- Enlargement and irritation of the large intestine
- Thickening of the eyelids and lips
- Abnormalities of bones of feet and thighs
- Curvature of the spine
Familial Medullary Thyroid Carcinoma (FMTC) is medullary thyroid cancer that develops in multiple members of the same family without the presence of pheochromocytoma and/or hyperparathyroidism.
Genetic testing of blood samples can confirm a diagnosis of MEN2 and identify family members at risk of developing the disease.
Pheochromocytomas in multiple endocrine neoplasia 2
- Pheochromocytoma is a tumour that occurs in the adrenal medulla that makes excess hormones called catecholamines (such as adrenaline).
- Pheochromocytomas may also occur in both adrenal glands in MEN2. Although a pheochromocytoma is a tumour, it is rarely malignant in MEN2.
Men syndrome type 4
Mutation in cyclin dependent kinase 1 B (CDK1B)-Chromosome 12
Diagnosis of men syndrome
- Genetic tests
- Hormone levels in blood and urine
- Sometimes Imaging tests, such as ultrasonography, computed tomography (CT), magnetic resonance imaging (MRI), and positron emission tomography (PET), are also needed to help doctors determine locations of the tumours.
Treatment of Men syndrome
- Medical
- proton pump inhibitor
- indications
- Zollinger-Ellison syndrome
- modalities
- omeprazole
- lansoprazole
- Surgical
- thyroidectomy
- indications
- medullary thyroid cancer
- MEN IIA or IIB
- follow with thyroid hormone supplementation
- parathyroidectomy
- indications
- parathyroid tumour
- MEN I
- duodenal-pancreatic surgery
- indications
- Zollinger-Ellison syndrome refractory to medical management
- Pancreatic neuroendocrine tumours.
- adrenalectomy
- indications
- pheochromocytoma
- preoperative medications to prevent hypertensive crisis
- must start with alpha blockade
- follow with beta blockade
- modalities
- complete bilateral adrenalectomy is recommended to reduce risk of recurrence
MCQs
Q. Gene mutation in MEN 2 syndrome
a) MEN I geneb) MEN II gene.
c) RET gene.
d) CDK1B
Answer: C
MEN2A and MEN2B are caused by mutations in the RET gene.
