Multiple endocrine neoplasia type 2: Difference between revisions

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Latest revision as of 02:46, 27 November 2017

For patient information, click here.

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Ammu Susheela, M.D. [2]

Synonyms and keywords: Familial endocrine adenomatosis type 2; Familial endocrine adenomatosis type 2a; Familial endocrine adenomatosis type 2b; Familial chromaffinomatosis type 2; Familial medullary thyroid carcinoma; Multiple endocrine adenomatosis type 2; Multiple endocrine adenomatosis type 2a; Multiple endocrine adenomatosis type 2b; Multiple endocrine neoplasia syndrome type 2; Multiple endocrine neoplasia syndrome type 2a; Multiple endocrine neoplasia syndrome type 2b; MEN type 2; MEN type 2a; MEN type 2b; MEN 2 syndrome; MEN type II; MEN type IIa; MEN type IIb; MEA type 2; MEA type 2a; MEA type 2b; Multiple endocrine neoplasms type 2; Multiple endocrine neoplasms type 2a; Multiple endocrine neoplasms type 2b; Multiple neuroma syndrome type 2; Multiple neuroma syndrome type 2a; Multiple neuroma syndrome type 2b; PTC syndrome; Sipple's syndrome; Pheochromocytoma and amyloid producing medullary thyroid carcinoma; Wagenmann-Froboese syndrome

Diagnosis

Treatment

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-{{DiseaseDisorder infobox |
+__NOTOC__
-  Name           = Sipple syndrome |
+'''For patient information, click [[{{PAGENAME}} (patient information)|here]].'''
-  ICD10          = {{ICD10|D|44|8|d|37}} |
+{{Multiple endocrine neoplasia type 2}}
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+{{CMG}}; {{AE}} {{Ammu}}
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-  eMedicineTopic = 1520 |
-  DiseasesDB     = 7984 |
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-{{DiseaseDisorder infobox |
-  Name           = MEN type 2B |
-  ICD10          = {{ICD10|D|44|8|d|37}} |
-  ICD9           = |
-  ICDO           = |
-  Image          = |
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+{{SK}} Familial endocrine adenomatosis type 2; Familial endocrine adenomatosis type 2a; Familial endocrine adenomatosis type 2b; Familial chromaffinomatosis type 2; Familial medullary thyroid carcinoma;  Multiple endocrine adenomatosis type 2; Multiple endocrine adenomatosis type 2a; Multiple endocrine adenomatosis type 2b; Multiple endocrine neoplasia syndrome type 2; Multiple endocrine neoplasia syndrome type 2a; Multiple endocrine neoplasia syndrome type 2b; MEN type 2; MEN type 2a; MEN type 2b; MEN 2 syndrome; MEN type II; MEN type IIa; MEN type IIb; MEA type 2; MEA type 2a; MEA type 2b; Multiple endocrine neoplasms type 2; Multiple endocrine neoplasms type 2a; Multiple endocrine neoplasms type 2b; Multiple neuroma syndrome type 2; Multiple neuroma syndrome type 2a; Multiple neuroma syndrome type 2b; PTC syndrome; Sipple's syndrome; Pheochromocytoma and amyloid producing medullary thyroid carcinoma; Wagenmann-Froboese syndrome
-'''Multiple endocrine neoplasia type 2''' is part of a group of disorders that affect the [[endocrine system]]. These disorders greatly increase the risk of developing multiple [[cancer]]ous and noncancerous [[tumor]]s in glands such as the [[thyroid]], [[parathyroid]], and [[Adrenal gland|adrenals]]. Multiple endocrine neoplasia occurs when tumors are found in at least two endocrine glands. [[Tumor]]s can also develop in organs and tissues other than endocrine glands. If the [[tumor]]s become cancerous, some cases can be life-threatening. The disorder effects 1 in 30,000 people.
+==[[Multiple endocrine neoplasia type 2 overview|Overview]]==
-==Presentation==
+==[[Multiple endocrine neoplasia type 2 historical perspective|Historical Perspective]]==
-Although many different types of hormone-producing tumors are associated with multiple endocrine neoplasia, the most common sign of multiple endocrine neoplasia type 2 is a form of [[thyroid]] cancer called [[thyroid cancer#medullary thyroid cancer (MTC)|medullary thyroid carcinoma]]. This tumor secretes an inactive hormone called [[calcitonin]]. Many people with this disorder also develop [[pheochromocytoma]], which is a [[tumor]] of the [[adrenal gland]]s (located above each [[kidney]]) that can cause dangerously high [[blood pressure]]. In addition, overactivity of the [[parathyroid gland]] ([[hyperparathyroidism]]) occurs in some cases of [[multiple endocrine neoplasia type 2]]. [[Hyperparathyroidism]] disrupts the normal balance of [[calcium]] in the blood, which can lead to [[kidney stones]], thinning of [[bone]]s, [[weakness]], and [[fatigue]].
-==Classification==
+==[[Multiple endocrine neoplasia type 2 classification|Classification]]==
-The two major types of [[multiple endocrine neoplasia type 1]] and type 2, are often confused because they have similar names. These types are distinguished by the genes involved, the hormones that are affected, and their characteristic signs and symptoms. They are also very different in their options for cancer prevention and treatment. Multiple endocrine neoplasia type 2 can be further divided into three subtypes: type 2A, type 2B, and familial medullary thyroid carcinoma (FMTC). These subtypes differ in their characteristic signs and symptoms and risk of specific tumors, but are relatively consistent within any one family.
-==Causes==
+==[[Multiple endocrine neoplasia type 2 pathophysiology|Pathophysiology]]==
-Mutations in the [[RET proto-oncogene]] cause multiple endocrine neoplasia type 2. The protein produced by the [[RET proto-oncogene]] gene normally plays an important role in signaling cells to respond to their environment, for example by [[cell division|dividing]] or maturing. Mutations in this gene cause an overactivation of the protein's signaling function, which can lead to an overgrowth of cells and the formation of tumors characteristic of multiple endocrine neoplasia type 2.
-==Genetics==
+==[[Multiple endocrine neoplasia type 2 causes|Causes]]==
-[[Image:autodominant2.jpg|thumb|left|Most cases of multiple endocrine neoplasia type 2 are inherited in an [[autosomal dominant]] pattern.]]
-Most cases of multiple endocrine neoplasia type 2 are inherited in an [[autosomal dominant]] pattern, which means affected people may have affected siblings and relatives in successive generations (such as parents and children). An affected person usually has one parent with the condition. Some cases, however, result from new mutations in the [[RET proto-oncogene]] gene. These cases occur in people with no history of the disorder in their family.
-Germline mutations are responsible for sporadic MEN 2, while mutations in the cysteine residues in the exons of the RET protein product are common in familial MEN 2.
+==[[Multiple endocrine neoplasia type 2 differential diagnosis|Differentiating Multiple endocrine neoplasia type 2 from other Diseases]]==
-==Differences in presentation==
+==[[Multiple endocrine neoplasia type 2 epidemiology and demographics|Epidemiology & Demographics]]==
-MEN IIa is characterized by the presence of [[Medullary thyroid carcinoma]], [[pheochromocytoma]], and [[parathyroid]] [[hyperplasia]] or [[tumor]].
-MEN IIb is characterized by the presence of [[pheochromocytoma]], mucocutaneous neuroma, and [[medullary thyroid cancer]].
+==[[Multiple endocrine neoplasia type 2 risk factors|Risk Factors]]==
-==Notable cases==
+==[[Multiple endocrine neoplasia type 2 screening|Screening]]==
-It has been speculated that Abraham Lincoln had MEN 2B given his tall stature, lesions on his lips, weight loss and shape of his head <ref>http://www.msnbc.msn.com/id/30267859/</ref>
+==[[Multiple endocrine neoplasia type 2 natural history|Natural History, Complications & Prognosis]]==
+==Diagnosis==
+[[Multiple endocrine neoplasia type 2 diagnostic criteria|Diagnostic Criteria]] | [[Multiple endocrine neoplasia type 2 history and symptoms|History & Symptoms]] | [[Multiple endocrine neoplasia type 2 physical examination|Physical Examination]] | [[Multiple endocrine neoplasia type 2 laboratory findings|Laboratory Findings]] | [[Multiple endocrine neoplasia type 2 electrocardiogram|Electrocardiogram]] | [[Multiple endocrine neoplasia type 2 x ray|X Ray]] | [[Multiple endocrine neoplasia type 2 CT|CT]] | [[Multiple endocrine neoplasia type 2 MRI|MRI]] | [[Multiple endocrine neoplasia type 2 echocardiography or ultrasound|Echocardiography or Ultrasound]] | [[Multiple endocrine neoplasia type 2 other imaging findings|Other Imaging Findings]] | [[Multiple endocrine neoplasia type 2 other diagnostic studies|Other Diagnostic Studies]]
+==Treatment==
+[[Multiple endocrine neoplasia type 2 medical therapy|Medical Therapy]] | [[Multiple endocrine neoplasia type 2 surgery|Surgery]] | [[Multiple endocrine neoplasia type 2 primary prevention|Primary Prevention]] | [[Multiple endocrine neoplasia type 2 secondary prevention|Secondary Prevention]] | [[Multiple endocrine neoplasia type 2 cost-effectiveness of therapy|Cost-Effectiveness of Therapy]] | [[Multiple endocrine neoplasia type 2 future or investigational therapies|Future or Investigational Therapies]]
 == See also ==
 * [[Multiple endocrine neoplasia]]
 * [[Multiple endocrine neoplasia type 1]]
+* [[Multiple endocrine neoplasia type 4]]
-==References==
-{{reflist|2}}
-''This article incorporates public domain text from [http://ghr.nlm.nih.gov The U.S. National Library of Medicine]''
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v t e Endocrine pathology: endocrine diseases (E00-35, 240-259)
Thyroid	Hypothyroidism (Iodine deficiency, Cretinism, Congenital hypothyroidism, Goitre, Myxedema) - Hyperthyroidism (Graves disease, Toxic multinodular goitre, Teratoma with thyroid tissue or Struma ovarii) - Thyroiditis (De Quervain's thyroiditis, Hashimoto's thyroiditis, Riedel's thyroiditis) - Euthyroid sick syndrome
Pancreas	Diabetes mellitus (type 1, type 2, coma, angiopathy, ketoacidosis, nephropathy, neuropathy, retinopathy) - Hypoglycemia - Hyperinsulinism - Zollinger-Ellison syndrome - insulin receptor (Rabson-Mendenhall syndrome)
Parathyroid	Hypoparathyroidism (Pseudohypoparathyroidism) - Hyperparathyroidism (Primary, Secondary, Tertiary)
Pituitary	Hyperpituitarism (Acromegaly, Hyperprolactinaemia, SIADH) - Hypopituitarism (Simmonds' disease / Sheehan's syndrome, Kallmann syndrome, Growth hormone deficiency, Diabetes insipidus) - Adiposogenital dystrophy - Empty sella syndrome - Hypophysitis
Adrenal	Cushing's syndrome (Nelson's syndrome, Pseudo-Cushing's syndrome) - CAH (Lipoid, 3β, 11β, 17α, 21α) - Hyperaldosteronism (Conn syndrome, Bartter syndrome) - Adrenal insufficiency (Addison's disease) - Hypoaldosteronism
Gonads	Ovarian dysfunction (Polycystic ovary syndrome, Premature ovarian failure) - Testicular dysfunction (5-alpha-reductase deficiency) - Testosterone biosynthesis (17-beta-hydroxysteroid dehydrogenase deficiency) - General (Hypogonadism, Delayed puberty, Precocious puberty)
Other	Androgen insensitivity syndrome - Autoimmune polyendocrine syndrome - Carcinoid syndrome - Gigantism - Short stature (Laron syndrome, Psychogenic dwarfism) - Multiple endocrine neoplasia (1, 2) - Progeria - Woodhouse-Sakati syndrome

Multiple endocrine neoplasia type 2: Difference between revisions

Latest revision as of 02:46, 27 November 2017

Diagnosis

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