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Paragangliomas with sensorineural hearing loss(PGL1)

MedGen UID:
358258
Concept ID:
C1868633
Disease or Syndrome
Synonym: PGL1
 
OMIM®: 168000

Definition

Paragangliomas and pheochromocytomas can occur in individuals with other inherited disorders, such as von Hippel-Lindau syndrome, Carney-Stratakis syndrome, and certain types of multiple endocrine neoplasia. These other disorders feature additional tumor types and have different genetic causes. Some paragangliomas and pheochromocytomas occur in people with no history of the tumors in their families and appear not to be inherited. These cases are designated as sporadic.

Researchers have identified several types of hereditary paraganglioma-pheochromocytoma. Each type is distinguished by its genetic cause. People with types 1, 2, and 3 typically develop paragangliomas in the head or neck region. People with type 4 usually develop extra-adrenal paragangliomas in the abdomen and are at higher risk for malignant tumors that metastasize. The other types are very rare. Hereditary paraganglioma-pheochromocytoma is typically diagnosed in a person's 30s.

Paragangliomas and pheochromocytomas are typically considered an undetermined tumor type, meaning they can be noncancerous (benign) or become cancerous (malignant) and spread to other parts of the body (metastasize). Extra-adrenal paragangliomas become malignant more often than other types of paraganglioma or pheochromocytoma.

Most paragangliomas are associated with ganglia of the parasympathetic nervous system, which controls involuntary body functions such as digestion and saliva formation. Parasympathetic paragangliomas, typically found in the head and neck, usually do not produce hormones. However, large tumors may cause signs and symptoms such as coughing, hearing loss in one ear, or difficulty swallowing.

Pheochromocytomas and some other paragangliomas are associated with ganglia of the sympathetic nervous system. The sympathetic nervous system controls the "fight-or-flight" response, a series of changes in the body due to hormones released in response to stress. Sympathetic paragangliomas found outside the adrenal glands, usually in the abdomen, are called extra-adrenal paragangliomas. Most sympathetic paragangliomas, including pheochromocytomas, produce hormones called catecholamines, such as epinephrine (adrenaline) or norepinephrine. These excess catecholamines can cause signs and symptoms such as high blood pressure (hypertension), episodes of rapid heartbeat (palpitations), headaches, or sweating.

Hereditary paraganglioma-pheochromocytoma is an inherited condition characterized by the growth of tumors in structures called paraganglia. Paraganglia are groups of cells that are found near nerve cell bunches called ganglia. A tumor involving the paraganglia is known as a paraganglioma. A type of paraganglioma known as a pheochromocytoma develops in the adrenal glands, which are located on top of each kidney and produce hormones in response to stress. Other types of paraganglioma are usually found in the head, neck, or trunk. People with hereditary paraganglioma-pheochromocytoma develop one or more paragangliomas, which may include pheochromocytomas. [from MedlinePlus Genetics]

Recent clinical studies

Etiology

Patel NS, Link MJ, Driscoll CLW, Neff BA, Van Gompel JJ, Lane JI, Carlson ML
Otol Neurotol 2019 Oct;40(9):1230-1236. doi: 10.1097/MAO.0000000000002346. PMID: 31469795
Isaacson B, Wick CC, Perez C, Cantrell SC, Killeen DE
Laryngoscope 2019 Jan;129(1):67-75. Epub 2018 Sep 8 doi: 10.1002/lary.27343. PMID: 30194736
Medina M, Prasad SC, Patnaik U, Lauda L, Di Lella F, De Donato G, Russo A, Sanna M
Audiol Neurootol 2014;19(5):342-50. Epub 2014 Nov 4 doi: 10.1159/000362617. PMID: 25377482
Pollock BE
Neurosurg Focus 2004 Aug 15;17(2):E10. doi: 10.3171/foc.2004.17.2.10. PMID: 15329025
Miman MC, Aktas D, Oncel S, Ozturan O, Kalcioglu MT
Otolaryngol Head Neck Surg 2002 Dec;127(6):585-6. doi: 10.1067/mhn.2003.130100. PMID: 12501114

Diagnosis

Berry JA, Nathan CAO, Flowers AB, Mankekar G
BMJ Case Rep 2020 Dec 9;13(12) doi: 10.1136/bcr-2020-237537. PMID: 33298488Free PMC Article
Kaul VF, Filip P, Schwam ZG, Wanna GB
Am J Otolaryngol 2020 Sep-Oct;41(5):102562. Epub 2020 May 27 doi: 10.1016/j.amjoto.2020.102562. PMID: 32563784
Schnack DT, Kiss K, Hansen S, Miyazaki H, Bech B, Caye Thomasen P
J Int Adv Otol 2017 Aug;13(2):289-291. Epub 2017 Jul 17 doi: 10.5152/iao.2017.2237. PMID: 28716765
Miman MC, Aktas D, Oncel S, Ozturan O, Kalcioglu MT
Otolaryngol Head Neck Surg 2002 Dec;127(6):585-6. doi: 10.1067/mhn.2003.130100. PMID: 12501114
Oldring D, Fisch U
Am J Otol 1979 Jul;1(1):7-18. PMID: 233408

Therapy

Michael LM 2nd, Robertson JH
Neurosurg Focus 2004 Aug 15;17(2):E1. doi: 10.3171/foc.2004.17.2.1. PMID: 15329016
Jackson CG, Haynes DS, Walker PA, Glasscock ME 3rd, Storper IS, Josey AF
Am J Otol 1996 May;17(3):425-37. PMID: 8817021
Gold S, Kamerer DB, Hirsch BE, Cass SP
Am J Otolaryngol 1993 Sep-Oct;14(5):327-31. doi: 10.1016/0196-0709(93)90090-t. PMID: 8238760

Prognosis

Morita S, Takeshima K, Ariyasu H, Furukawa Y, Kishimoto S, Tsuji T, Uraki S, Mishima H, Kinoshita A, Takahashi Y, Inaba H, Iwakura H, Furuta H, Nishi M, Doi A, Murata SI, Yoshiura KI, Akamizu T
BMC Endocr Disord 2020 Jun 22;20(1):90. doi: 10.1186/s12902-020-00574-9. PMID: 32571297Free PMC Article
Isaacson B, Wick CC, Perez C, Cantrell SC, Killeen DE
Laryngoscope 2019 Jan;129(1):67-75. Epub 2018 Sep 8 doi: 10.1002/lary.27343. PMID: 30194736
Olcott C, Strasnick B
Am J Otolaryngol 2017 Jan-Feb;38(1):100-102. Epub 2016 Sep 28 doi: 10.1016/j.amjoto.2016.09.013. PMID: 27931523
Pollock BE
Neurosurg Focus 2004 Aug 15;17(2):E10. doi: 10.3171/foc.2004.17.2.10. PMID: 15329025
Miman MC, Aktas D, Oncel S, Ozturan O, Kalcioglu MT
Otolaryngol Head Neck Surg 2002 Dec;127(6):585-6. doi: 10.1067/mhn.2003.130100. PMID: 12501114

Clinical prediction guides

Patel NS, Link MJ, Driscoll CLW, Neff BA, Van Gompel JJ, Lane JI, Carlson ML
Otol Neurotol 2019 Oct;40(9):1230-1236. doi: 10.1097/MAO.0000000000002346. PMID: 31469795
Isaacson B, Wick CC, Perez C, Cantrell SC, Killeen DE
Laryngoscope 2019 Jan;129(1):67-75. Epub 2018 Sep 8 doi: 10.1002/lary.27343. PMID: 30194736
Schnack DT, Kiss K, Hansen S, Miyazaki H, Bech B, Caye Thomasen P
J Int Adv Otol 2017 Aug;13(2):289-291. Epub 2017 Jul 17 doi: 10.5152/iao.2017.2237. PMID: 28716765
Lord RS, Chambers AJ
Cardiovasc Surg 1999 Jan;7(1):134-8. doi: 10.1016/s0967-2109(98)00005-2. PMID: 10073773
Oldring D, Fisch U
Am J Otol 1979 Jul;1(1):7-18. PMID: 233408

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