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Revision as of 21:11, 23 October 2017

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

Overview

Multiple endocrine neoplasia type 1 must be differentiated from other diseaseswith similar presentation such as von Hippel-Lindau syndrome, tuberous sclerosis, carney complex, neurofibromatosis type 1, Li-Fraumeni syndrome, multiple endocrine neoplasia type 2, familial hyperparathyroidism, pheochromocytoma and acromegaly.

Differential Diagnosis

The table below summarizes the findings that differentiate Multiple endocrine neoplasia type 1 from other conditions with similar presentations^[1]^[2]^[3]


Disease	Gene	Chromosome	Differentiating Features	Components of MEN			Diagnosis
Disease	Gene	Chromosome	Differentiating Features	Parathyroid	Pitutary	Pancreas	Diagnosis
von Hippel-Lindau syndrome	Von Hippel–Lindau tumor suppressor	3p25.3	Angiomatosis, Hemangioblastomas Pheochromocytoma Renal cell carcinoma Pancreatic cysts (pancreatic serous cystadenoma) Endolymphatic sac tumor Bilateral papillary cystadenomas of the epididymis (men) or broad ligament of the uterus (women)	-	-	+	Clinical diagnosis In hereditary VHL, disease techniques such as Southern blotting and gene sequencing can be used to analyse DNA and identify mutations.
Carney complex	PRKAR1A	17q23-q24	Myxomas of the heart Hyperpigmentation of the skin (lentiginosis) Endocrine (ACTH-independent Cushing's syndrome due to primary pigmented nodular adrenocortical disease)	-	-	-	Clinical diagnosis
Neurofibromatosis type 1	RAS	17	Scoliosis Learning disabilities Vision disorders Cutaneous lesions Epilepsy.	-	-	-	Prenatal Chorionic villus sampling or amniocentesis can be used to detect NF-1 in the fetus. Postnatal Cardinal Clinical Features" are required for positive diagnosis. Six or more café-au-lait spots over 5 mm in greatest diameter in pre-pubertal individuals and over 15 mm in greatest diameter in post-pubertal individuals. Two or more neurofibromas of any type or 1 plexiform neurofibroma Freckling in the axillary (Crowe sign) or inguinal regions Optic glioma Two or more Lisch nodules (pigmented iris hamartomas) A distinctive osseous lesion such as sphenoid dysplasia, or thinning of the long bone cortex with or without pseudarthrosis.
Li-Fraumeni syndrome	TP53	17	Early onset of diverse amount of cancers such as Sarcoma Cancers of Breast Brain Adrenal glands	-	-	-	Criteria Sarcoma at a young age (below 45) A first-degree relative diagnosed with any cancer at a young age (below 45) A first or second degree relative with any cancer diagnosed before age 60.
Gardner's syndrome	APC	5q21	Multiple polyps in the colon Osteomas of the skull Thyroid cancer Epidermoid cysts Fibromas Desmoid tumors	-	-	-	Clinical diagnosis Colonoscopy
Multiple endocrine neoplasia type 2	RET	-	Medullary thyroid carcinoma (MTC) Pheochromocytoma Primary hyperparathyroidism	+	-	-	Hypercalcemia Hypophosphatemia, Elevated parathyroid hormone, Elevated norepinephrine Criteria Two or more specific endocrine tumors Medullary thyroid carcinoma Pheochromocytoma Parathyroid hyperplasia
Cowden syndrome	PTEN	-	Hamartomas	-	-	-	PTEN mutation probability risk calculator
Acromegaly/gigantism	-	-	Enlargement of the hands, feet, nose, lips and ears, and a general thickening of the skin Hypertrichosis Hyperpigmentation Hyperhidrosis Carpal tunnel syndrome.	-	+	-	An elevated concentration of serum growth hormone (GH) and insulin-like growth factor 1(IGF-1) levels is diagnostic of acromegaly.
Pituitary adenoma	-	-	Visual field defects classically bitemporal hemianopsia Increased intracranial pressure Migraine Lateral rectus palsy	-	+	-	Elevated serum level of prolactin Elevated or decreased serum level of adrenocorticotropic hormone (ACTH) Elevated or decreased serum level of growth hormone (GH) Elevated or decreased serum level of thyroid-stimulating hormone (TSH) Elevated or decreased serum level of follicle-stimulating hormone (FSH) Elevated or decreased serum level of luteinizing hormone (LH)
Hyperparathyroidism	-	-	Kidney stones Hypercalcemia Constipation Peptic ulcers Depression	+	-	-	An elevated concentration of serum calcium with elevated parathyroid hormone level is diagnostic of primary hyperparathyroidism. Most consistent laboratory findings associated with the diagnosis of secondary hyperparathyroidism include elevated serum parathyroid hormone level and low to normal serum calcium. An elevated concentration of serum calcium with elevated parathyroid hormone level in post renal transplant patients is diagnostic of tertiary hyperparathyoidism.
Pheochromocytoma/paraganglioma	VHL RET NF1 SDHB SDHD	-	Characterized by Episodic hypertension Palpitations Anxiety Diaphoresis Weight loss	-	-	-	Increased catecholamines and metanephrines in plasma (blood) or through a 24-hour urine collection.
Adrenocortical carcinoma	p53 Retinoblastoma h19 Insulin-like growth factor II (IGF-II) p57^kip2	17p, 13q	Cushing syndrome (cortisol hypersecretion) Conn syndrome (aldosterone hypersecretion) virilization (testosterone hypersecretion)	-	-	-	Increased serum glucose Increased urine cortisol Serum androstenedione and dehydroepiandrosterone Low serum potassium Low plasma renin activity High serum aldosterone Excess serum estrogen
Adapted from Toledo SP, Lourenço DM, Toledo RA. A differential diagnosis of inherited endocrine tumors and their tumor counterparts, journal=Clinics (Sao Paulo), volume= 68, issue= 7, 07/24/2013^[4]

References

↑ Vortmeyer AO, Lubensky IA, Skarulis M, Li G, Moon YW, Park WS; et al. (1999). "Multiple endocrine neoplasia type 1: atypical presentation, clinical course, and genetic analysis of multiple tumors". Mod Pathol. 12 (9): 919–24. PMID 10496602.
↑ Ye L, Wang W, Ospina NS, Jiang L, Christakis I, Lu J; et al. (2017). "Clinical Features and Prognosis of Thymic Neuroendocrine Tumors Associated with Multiple Endocrine Neoplasia Type 1: A Single Center Study, Systematic Review, and Meta-analysis". Clin Endocrinol (Oxf). doi:10.1111/cen.13480. PMID 28940393.
↑ Falchetti A, Marini F, Luzi E, Giusti F, Cavalli L, Cavalli T; et al. (2009). "Multiple endocrine neoplasia type 1 (MEN1): not only inherited endocrine tumors". Genet Med. 11 (12): 825–35. doi:10.1097/GIM.0b013e3181be5c97. PMID 19904212.
↑ Toledo SP, Lourenço DM, Toledo RA (2013). "A differential diagnosis of inherited endocrine tumors and their tumor counterparts". Clinics (Sao Paulo). 68 (7): 1039–56. doi:10.6061/clinics/2013(07)24. PMC 3715026. PMID 23917672.

Template:WS Template:WH

[pmid10496602-1] Vortmeyer AO, Lubensky IA, Skarulis M, Li G, Moon YW, Park WS; et al. (1999). "Multiple endocrine neoplasia type 1: atypical presentation, clinical course, and genetic analysis of multiple tumors". Mod Pathol. 12 (9): 919–24. PMID 10496602.

[pmid28940393-2] Ye L, Wang W, Ospina NS, Jiang L, Christakis I, Lu J; et al. (2017). "Clinical Features and Prognosis of Thymic Neuroendocrine Tumors Associated with Multiple Endocrine Neoplasia Type 1: A Single Center Study, Systematic Review, and Meta-analysis". Clin Endocrinol (Oxf). doi:10.1111/cen.13480. PMID 28940393.

[pmid19904212-3] Falchetti A, Marini F, Luzi E, Giusti F, Cavalli L, Cavalli T; et al. (2009). "Multiple endocrine neoplasia type 1 (MEN1): not only inherited endocrine tumors". Genet Med. 11 (12): 825–35. doi:10.1097/GIM.0b013e3181be5c97. PMID 19904212.

[pmid23917672-4] Toledo SP, Lourenço DM, Toledo RA (2013). "A differential diagnosis of inherited endocrine tumors and their tumor counterparts". Clinics (Sao Paulo). 68 (7): 1039–56. doi:10.6061/clinics/2013(07)24. PMC 3715026. PMID 23917672.

[1]

[2]

[3]

[4]

@@ Line 9: / Line 9: @@
 The table below summarizes the findings that differentiate Multiple endocrine neoplasia type 1 from other conditions with similar presentations<ref name="pmid10496602">{{cite journal| author=Vortmeyer AO, Lubensky IA, Skarulis M, Li G, Moon YW, Park WS et al.| title=Multiple endocrine neoplasia type 1: atypical presentation, clinical course, and genetic analysis of multiple tumors. | journal=Mod Pathol | year= 1999 | volume= 12 | issue= 9 | pages= 919-24 | pmid=10496602 | doi= | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=10496602  }} </ref><ref name="pmid28940393">{{cite journal| author=Ye L, Wang W, Ospina NS, Jiang L, Christakis I, Lu J et al.| title=Clinical Features and Prognosis of Thymic Neuroendocrine Tumors Associated with Multiple Endocrine Neoplasia Type 1: A Single Center Study, Systematic Review, and Meta-analysis. | journal=Clin Endocrinol (Oxf) | year= 2017 | volume=  | issue=  | pages=  | pmid=28940393 | doi=10.1111/cen.13480 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=28940393  }} </ref><ref name="pmid19904212">{{cite journal| author=Falchetti A, Marini F, Luzi E, Giusti F, Cavalli L, Cavalli T et al.| title=Multiple endocrine neoplasia type 1 (MEN1): not only inherited endocrine tumors. | journal=Genet Med | year= 2009 | volume= 11 | issue= 12 | pages= 825-35 | pmid=19904212 | doi=10.1097/GIM.0b013e3181be5c97 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=19904212  }} </ref>
 <small>
-{| style="border: 0px; font-size: 90%; margin: 3px; width: 600px" align="center"
+{| style="border: 0px; font-size: 85%; margin: 3px; width: 600px" align="center"
 |+
 ! rowspan="2" style="background: #4479BA; width: 200px;" | {{fontcolor|#FFF|Disease}}
@@ Line 24: / Line 23: @@
 |-
 | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |[[von Hippel-Lindau syndrome]]
-| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |Von Hippel–Lindau tumor suppressor
+| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |
+* [[Von Hippel-Lindau tumor suppressor|Von Hippel–Lindau tumor suppressor]]
 | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |3p25.3
 | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |
-* Angiomatosis,
+* [[Angiomatosis]],
-* Hemangioblastomas,
+* [[Hemangioblastoma|Hemangioblastomas]]
-* Pheochromocytoma,
+* [[Pheochromocytoma]]
-* Renal cell carcinoma,
+* [[Renal cell carcinoma]]
-* Pancreatic cysts (pancreatic serous cystadenoma)
+* [[Pancreatic cyst|Pancreatic cysts]] (pancreatic serous cystadenoma)
-* Endolymphatic sac tumor,
+* [[Endolymphatic sac tumor]]
 * Bilateral papillary cystadenomas of the epididymis (men) or broad ligament of the uterus (women)
 | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |<nowiki>-</nowiki>
@@ Line 39: / Line 39: @@
 | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |
 * Clinical diagnosis
-* In hereditary VHL, disease techniques such as Southern blotting and gene sequencing can be used to analyse DNA and identify mutations.
+* In hereditary VHL, disease techniques such as [[Southern blotting]] and [[gene sequencing]] can be used to analyse [[DNA]] and identify mutations.
 |-
 | style="padding: 5px 5px; background: #DCDCDC;font-weight: bold" |[[Carney complex]]
-| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold"| PRKAR1A
+| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |
-| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold"| 17q23-q24
+* [[PRKAR1A]]
-| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold"|
+| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | 17q23-q24
-* Myxomas of the heart
+| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |
-* Hyperpigmentation of the skin (lentiginosis)
+* [[Myxomas]] of the [[heart]]
-* Endocrine (ACTH-independent Cushing's syndrome due to primary pigmented nodular adrenocortical disease)
+* [[Hyperpigmentation]] of the [[skin]] ([[lentiginosis]])
+* [[Endocrine]] ([[Adrenocorticotropic hormone|ACTH]]-independent [[Cushing's syndrome]] due to primary pigmented nodular adrenocortical disease)
 | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | -
 | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | -
@@ Line 55: / Line 56: @@
 |-
 | style="padding: 5px 5px; background: #DCDCDC;font-weight: bold" |[[Neurofibromatosis type 1]]
-| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold"|RAS
+| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |
-| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold"|17
+* [[RAS]]
-| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold"|
+| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |17
+| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |
 * [[Scoliosis]]
-* Learning disabilities
+* [[Learning disabilities]]
-* [[Vision]] disorders
+* [[Visual disturbance|Vision]] disorders
-* Cutaneous [[lesion]]s
+* [[Cutaneous]] [[lesion]]s
 * [[Epilepsy]].
 | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | -
@@ Line 67: / Line 69: @@
 | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | -
 | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |'''<u>Prenatal</u>'''
-* Chorionic villus sampling or amniocentesis can be used to detect NF-1 in the fetus.
+* [[Chorionic villus sampling]] or [[amniocentesis]] can be used to detect [[Neurofibromatosis type I|NF-1]] in the fetus.
 '''<u>Postnatal</u>'''
 Cardinal Clinical Features" are required for positive diagnosis.
-* Six or more café-au-lait spots over 5 mm in greatest diameter in pre-pubertal individuals and over 15 mm in greatest diameter in post-pubertal individuals.
+* Six or more [[Café-au-lait spot|café-au-lait spots]] over 5 mm in greatest diameter in pre-pubertal individuals and over 15 mm in greatest diameter in post-pubertal individuals.
-* Two or more neurofibromas of any type or 1 plexiform neurofibroma
+* Two or more [[Neurofibroma|neurofibromas]] of any type or 1 [[plexiform neurofibroma]]
-* Freckling in the axillary (Crowe sign) or inguinal regions
+* Freckling in the [[axillary]] ([[Crowe sign]]) or [[Inguinal region|inguinal]] regions
-* Optic glioma
+* [[Optic glioma]]
-* Two or more Lisch nodules (pigmented iris hamartomas)
+* Two or more [[Lisch nodules]] (pigmented iris [[hamartomas]])
-* A distinctive osseous lesion such as sphenoid dysplasia, or thinning of the long bone cortex with or without pseudarthrosis.
+* A distinctive [[osseous]] lesion such as [[Sphenoid bone|sphenoid]] [[dysplasia]], or thinning of the long bone cortex with or without [[pseudarthrosis]].
 |-
-| style="padding: 5px 5px; background: #DCDCDC;font-weight: bold"  |[[Li-Fraumeni syndrome]]
+| style="padding: 5px 5px; background: #DCDCDC;font-weight: bold" |[[Li-Fraumeni syndrome]]
-| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |TP53
+| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |
+* [[TP53 (gene)|TP53]]
 | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |17
 | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |Early onset of diverse amount of [[cancer]]s such as
@@ Line 91: / Line 94: @@
 | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |
 '''<u>Criteria</u>'''
-* Sarcoma at a young age (below 45)
+* [[Sarcoma]] at a young age (below 45)
-* A first-degree relative diagnosed with any cancer at a young age (below 45)
+* A first-degree relative diagnosed with any [[cancer]] at a young age (below 45)
-* A first or second degree relative with any cancer diagnosed before age 60.
+* A first or second degree relative with any [[cancer]] diagnosed before age 60.
 |-
-| style="padding: 5px 5px; background: #DCDCDC;font-weight: bold"  |[[Gardner's syndrome]]
+| style="padding: 5px 5px; background: #DCDCDC;font-weight: bold" |[[Gardner's syndrome]]
-| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | APC
+| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |
+* [[APC]]
 | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | 5q21
 | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |
-* Multiple polyps in the colon
+* Multiple [[polyps]] in the [[colon]]
-* Osteomas of the skull
+* [[Osteomas]] of the [[skull]]
-* Thyroid cancer,
+* [[Thyroid cancer]]
-* Epidermoid cysts,
+* [[Epidermoid cyst|Epidermoid cysts]]
-* Fibromas
+* [[Fibroma|Fibromas]]
-* Desmoid tumors
+* [[Desmoid tumor|Desmoid tumors]]
+| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | -
 | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | -
 | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | -
-| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |-
 | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |
 * Clinical diagnosis
-* Colonoscopy
+* [[Colonoscopy]]
 |-
 | style="padding: 5px 5px; background: #DCDCDC;font-weight: bold" |[[Multiple endocrine neoplasia type 2]]
-| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |''RET''
+| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |
+* ''[[RET gene|RET]]''
 | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | -
 | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |
 * [[Medullary thyroid carcinoma]] (MTC)
 * [[Pheochromocytoma]]
-* Primary [[hyperparathyroidism]]
+* [[Primary hyperparathyroidism]]
 | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | +
 | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | -
@@ Line 134: / Line 139: @@
 |-
 | style="padding: 5px 5px; background: #DCDCDC;font-weight: bold" |[[Cowden syndrome]]
-| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |PTEN
+| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |
-| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |-
+* [[PTEN]]
-| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | Hamartomas
+| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | -
+| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |
+* [[Hamartomas]]
 | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | -
 | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |<nowiki>-</nowiki>
-| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |-
+| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | -
 | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |
-* ''PTEN'' mutation probability risk calculator
+* ''[[PTEN]]'' mutation probability risk calculator
 |-
 | style="padding: 5px 5px; background: #DCDCDC;font-weight: bold" |[[Acromegaly]]/[[gigantism]]
-| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |-
+| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | -
-| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |-
+| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | -
 | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |
 * Enlargement of the [[hand]]s, [[feet]], [[nose]], [[lip]]s and [[ear]]s, and a general thickening of the [[skin]]
@@ Line 156: / Line 163: @@
 | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |<nowiki>-</nowiki>
 | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |
-* An elevated concentration of serum [[Growth hormone|growth hormone (GH)]] and [[Insulin-like growth factor|insulin-like growth factor 1(IGF-1)]] levels is diagnostic of acromegaly.
+* An elevated concentration of serum [[Growth hormone|growth hormone (GH)]] and [[Insulin-like growth factor|insulin-like growth factor 1(IGF-1)]] levels is diagnostic of [[acromegaly]].
 |-
 | style="padding: 5px 5px; background: #DCDCDC;font-weight: bold" |[[Pituitary adenoma]]
@@ Line 163: / Line 170: @@
 | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |
 * [[Visual field defect]]s classically [[bitemporal hemianopsia]]
-* Increased [[intracranial pressure]]
+* [[Increased intracranial pressure]]
 * [[Migraine]]
 * [[Lateral rectus]] palsy
-| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |-
+| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | -
 | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |<nowiki>+</nowiki>
-| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |-
+| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | -
 | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |
 :*Elevated serum level of  [[prolactin]]
@@ Line 178: / Line 185: @@
 |-
 | style="padding: 5px 5px; background: #DCDCDC;font-weight: bold" |[[Hyperparathyroidism]]
-| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |-
+| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | -
-| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |-
+| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | -
-| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |-
+| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |
 * [[Kidney stone]]s
-* [[Hypercalcemia]],
+* [[Hypercalcemia]]
 * [[Constipation]]
 * [[Peptic ulcer]]s
@@ Line 196: / Line 203: @@
 | style="padding: 5px 5px; background: #DCDCDC;font-weight: bold" |[[Pheochromocytoma]]/[[paraganglioma]]
 | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |
-''VHL''
+* ''[[VHL]]''
-''RET''
+* ''[[RET gene|RET]]''
-''NF1''
+* ''[[NF1]]''
-''SDHB''
+* ''[[SDHB]]''
-''SDHD''
+* ''[[SDHD]]''
-| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |-
+| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | -
 | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |Characterized by
 * Episodic [[hypertension]]
@@ Line 212: / Line 219: @@
 | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |<nowiki>-</nowiki>
 | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |
-* Increased catecholamines and metanephrines in plasma (blood) or through a 24-hour urine collection.
+* Increased [[Catecholamine|catecholamines]] and [[Metanephrine|metanephrines]] in [[plasma]] ([[blood]]) or through a 24-hour [[urine]] collection.
 |-
 | style="padding: 5px 5px; background: #DCDCDC;font-weight: bold" |[[Adrenocortical carcinoma]]
 | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |
-*p53
+*[[p53]]
-*Retinoblastoma h19
+*[[Retinoblastoma]] h19
 *Insulin-like growth factor II (IGF-II)
-*p57<sup>kip2</sup>
+*[[P57 (gene)|p57]]<sup>kip2</sup>
 | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |17p, 13q
 | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |
@@ Line 229: / Line 236: @@
 | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |<nowiki>-</nowiki>
 | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |
-* Increased serum glucose
+* [[Hyperglycemia|Increased serum glucose]]
-* Increased urine cortisol
+* Increased [[urine]] [[cortisol]]
-* Serum androstenedione and dehydroepiandrosterone
+* Serum [[androstenedione]] and [[dehydroepiandrosterone]]
-* Low serum potassium
+* [[Hypokalemia|Low serum potassium]]
-* Low plasma renin activity
+* Low plasma [[renin]] activity
-* High serum aldosterone.
+* High serum [[aldosterone]]
-* Excess serum estrogen.
+* Excess serum [[estrogen]]
 |-
 | colspan="8" style="padding: 5px 5px; background: #F5F5F5;" |<small>Adapted from Toledo SP, Lourenço DM, Toledo RA. A differential diagnosis of inherited endocrine tumors and their tumor counterparts, journal=Clinics (Sao Paulo), volume= 68, issue= 7, 07/24/2013<ref name="pmid23917672">{{cite journal| author=Toledo SP, Lourenço DM, Toledo RA| title=A differential diagnosis of inherited endocrine tumors and their tumor counterparts. | journal=Clinics (Sao Paulo) | year= 2013 | volume= 68 | issue= 7 | pages= 1039-56 | pmid=23917672 | doi=10.6061/clinics/2013(07)24 | pmc=PMC3715026 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23917672  }} </ref> </small>

Multiple endocrine neoplasia type 1 differential diagnosis: Difference between revisions

Revision as of 21:11, 23 October 2017

Overview

Differential Diagnosis

References

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