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MEN syndromes are inherited as Autosomal Dominant disorders. Medullary carcinoma of the thyroid may occur as an autosomal dominant in the absence of other features. MEN TYPE 1 See Also: Multiple endocrine neoplasia type 1
Type 1 is also known as Wermer's syndrome after Dr Paul Wermer, who described it in 1954: # Parathyroid hyperplasia/tumour causing Hyperparathyroidism . #Pancreatic Islet Cell tumours causing Hypoglycaemia ( Insulinoma ) and Zollinger-Ellison Syndrome ( Gastrinoma ). # Pituitary adenoma which may cause pituitary hormone excess. The causative mutation is in the '' Menin '' gene which encodes a nuclear protein, that is believed to act as a tumor suppressor. Most cases of multiple endocrine neoplasia type 1 are inherited in an Autosomal Dominant pattern. MEN TYPE 2A MEN syndrome types 2 and 3 have their basis in molecular genetics. Individuals can be tested for this genetic disorder reliably even when asymptomatic. The mutation is in the '' RET '' Oncogene . Most cases of multiple endocrine neoplasia types 2 and 3 are inherited in an Autosomal Dominant pattern. See Also: Multiple endocrine neoplasia type 2
Type 2 is also known as Sipple syndrome (after the American Dr John H. Sipple, who described it in 1961) and used to be called type 2A: # Medullary Carcinoma of the Thyroid which is associated with increased Calcitonin secretion. A test for elevated calcitonin should be done after Pentagastrin injection and/or calcium infusion, to ensure that all affected patients are detected. # Pheochromocytoma # Parathyroid hyperplasia/tumour causing Hyperparathyroidism . MEN TYPE 2B See Also: Multiple endocrine neoplasia type 3
This syndrome has no eponym; it was described by Schimke ''et al'' in 1968. Originally thought to be a third MEN, then considered a variant of II (especially after linkage to ''RET'' was confirmed), it is now considered its own syndrome. # Pheochromocytoma #Medullary carcinoma of Thyroid which is associated with increased Calcitonin secretion. A test for elevated calcitonin should be done after pentagastrin injection and/or calcium infusion, to ensure that all affected patients are detected. #Mucosal neuromas which are usually situated in the Gastrointestinal Tract . # Marfanoid habitus REFERENCES
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