Multiple endocrine neoplasia
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Multiple endocrine neoplasia | |
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Synonyms | N/A |
Pronounce | N/A |
Specialty | N/A |
Symptoms | Hyperparathyroidism, medullary thyroid carcinoma, pheochromocytoma, gastrointestinal symptoms |
Complications | Malignancy, metastasis, hormonal imbalances |
Onset | Varies by type, often in adulthood |
Duration | Chronic |
Types | Type 1, Type 2A, Type 2B |
Causes | Genetic mutations in MEN1 or RET proto-oncogene |
Risks | Family history, genetic predisposition |
Diagnosis | Genetic testing, biochemical tests, imaging studies |
Differential diagnosis | N/A |
Prevention | N/A |
Treatment | Surgery, medication, radiation therapy |
Medication | N/A |
Prognosis | Varies by type and treatment, generally guarded |
Frequency | Rare, varies by population |
Deaths | Dependent on type and treatment success |
Multiple Endocrine Neoplasia (MEN)
Multiple Endocrine Neoplasia (MEN) refers to a group of disorders characterized by the development of tumors in multiple endocrine glands. These syndromes are distinct, each with its characteristic pattern of tumor development. The tumors may be benign or malignant and can involve nonendocrine tissues in some cases. MEN syndromes are inherited as autosomal dominant disorders, meaning a single copy of the altered gene in each cell is sufficient to cause the disorder.
Types of MEN Syndromes
There are several types of MEN syndromes, including:
- MEN Type 1: Characterized by tumors in the parathyroid glands, pituitary gland, and pancreas.
- MEN Type 2: Includes MEN2A and MEN2B, both involving medullary thyroid carcinoma and different combinations of other endocrine tumors.
- MEN Type 4: A rare type with features similar to MEN1 and MEN2.
Tumor Characteristics
- Tumors in MEN syndromes can be benign or malignant.
- They may affect endocrine glands like the thyroid, parathyroid, and adrenal glands.
- Nonendocrine tumors can also occur as part of these syndromes.
Genetics and Inheritance
- MEN syndromes are inherited in an autosomal dominant pattern.
- Mutations in specific genes, such as MEN1, RET, and CDKN1B, are responsible for the different types of MEN.
Diagnosis and Management
- Diagnosis is based on genetic testing, clinical evaluation, and imaging studies.
- Management includes regular monitoring for tumor development and appropriate surgical or medical treatments.
Clinical Implications
- Early detection and treatment are crucial to manage the risk of malignancy and associated complications.
- Genetic counseling is recommended for individuals with a family history of MEN syndromes.
See Also
External Links
- National Cancer Institute: Parathyroid Cancer Treatment
- National Human Genome Research Institute: Multiple Endocrine Neoplasia
References
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Contributors: Kondreddy Naveen, Prab R. Tumpati, MD