Sipple syndrome
Sipple syndrome Sipple syndrome, also known as Multiple Endocrine Neoplasia type 2 (MEN2), is a hereditary condition characterized by the development of tumors in multiple endocrine glands. It is named after Dr. John Sipple, who first described the syndrome. Sipple syndrome is classified into two main subtypes: MEN2A and MEN2B.
Subtypes[edit | edit source]
MEN2A[edit | edit source]
MEN2A is the more common subtype of Sipple syndrome. It is characterized by the presence of:
MEN2B[edit | edit source]
MEN2B is less common but more aggressive. It includes:
- Medullary thyroid carcinoma (MTC)
- Pheochromocytoma
- Mucosal neuromas
- Marfanoid habitus
Genetics[edit | edit source]
Sipple syndrome is caused by mutations in the RET proto-oncogene. These mutations are inherited in an autosomal dominant pattern, meaning that a single copy of the mutated gene is sufficient to cause the disorder.
Clinical Features[edit | edit source]
Patients with Sipple syndrome may present with a variety of symptoms depending on the affected endocrine glands. Common symptoms include:
- Hypertension (due to pheochromocytoma)
- Hypercalcemia (due to parathyroid hyperplasia)
- Diarrhea (due to medullary thyroid carcinoma)
Diagnosis[edit | edit source]
Diagnosis of Sipple syndrome involves a combination of genetic testing, biochemical tests, and imaging studies. Genetic testing for mutations in the RET proto-oncogene is crucial for confirming the diagnosis.
Treatment[edit | edit source]
Treatment strategies for Sipple syndrome focus on the management of individual tumors and associated symptoms. This may include:
- Surgical removal of the thyroid gland (thyroidectomy) for medullary thyroid carcinoma
- Surgical removal of pheochromocytomas
- Management of hypercalcemia through medications or surgery
Prognosis[edit | edit source]
The prognosis for individuals with Sipple syndrome varies depending on the subtype and the extent of tumor involvement. Early diagnosis and treatment are essential for improving outcomes.
Related Pages[edit | edit source]
- Multiple Endocrine Neoplasia
- Medullary thyroid carcinoma
- Pheochromocytoma
- Parathyroid hyperplasia
- RET proto-oncogene
 | This article about an endocrine, nutritional, or metabolic disease is a stub. You can help WikiMD by expanding it. |
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Contributors: Prab R. Tumpati, MD
