{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,16]],"date-time":"2025-10-16T01:30:59Z","timestamp":1760578259175,"version":"3.41.2"},"reference-count":12,"publisher":"The Endocrine Society","issue":"3","license":[{"start":{"date-parts":[[2020,2,8]],"date-time":"2020-02-08T00:00:00Z","timestamp":1581120000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2020,3,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>It is estimated that up to 40% of all head and neck paragangliomas (HNPGL) have a hereditary background with the most common mutations being found in the succinate dehydrogenase (SDH) genes. SDHAF2 mutation leads to the rare paraganglioma syndrome 2. The authors present the case of a 15-year-old male patient with 2, non-secretory HNPGLs, presenting with left-sided, pulsatile tinnitus, and hearing loss. Imaging led to the suspicion of a jugulotympanic paraganglioma on the left, as well as a carotid body tumor on the right. After resection of the jugulotympanic tumor, histology confirmed the presence of a paraganglioma; immunohistochemistry furthermore suggested a loss of SDHB expression. Genetic testing revealed a rare germline, loss-of-function mutation in the SDHAF2 gene, previously described to cause hereditary paraganglioma syndrome 2. Twenty months after the first operation, the patient underwent a resection of the right carotid body paraganglioma. Plasma-free metanephrines\/catecholamines always remained within the reference range; the patient is under regular follow-up, and his relatives will be screened. Our findings emphasize the relevance of genetic testing in patients with HNPGL, also with negative family history, especially when the patients present at a young age and with multiple lesions.<\/jats:p>","DOI":"10.1210\/jendso\/bvaa016","type":"journal-article","created":{"date-parts":[[2020,2,8]],"date-time":"2020-02-08T07:53:30Z","timestamp":1581148410000},"source":"Crossref","is-referenced-by-count":5,"title":["Tinnitus With Unexpected Spanish Roots: Head and Neck Paragangliomas Caused by SDHAF2 Mutation"],"prefix":"10.1210","volume":"4","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0772-9593","authenticated-orcid":false,"given":"Laura Maria","family":"Roose","sequence":"first","affiliation":[{"name":"Clinic for Endocrinology, Diabetology and Clinical Nutrition, Zurich, Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Niels J","family":"Rupp","sequence":"first","affiliation":[{"name":"Department of Pathology, Zurich, Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christof","family":"R\u00f6\u00f6sli","sequence":"first","affiliation":[{"name":"Department of Otorhinolaryngology, University Hospital Zurich, Zurich, Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nadejda","family":"Valcheva","sequence":"first","affiliation":[{"name":"Department of Pathology, Zurich, Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Achim","family":"Weber","sequence":"first","affiliation":[{"name":"Department of Pathology, Zurich, Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Felix","family":"Beuschlein","sequence":"first","affiliation":[{"name":"Clinic for Endocrinology, Diabetology and Clinical Nutrition, Zurich, Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Oliver","family":"Tschopp","sequence":"first","affiliation":[{"name":"Clinic for Endocrinology, Diabetology and Clinical Nutrition, Zurich, Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"80","published-online":{"date-parts":[[2020,2,8]]},"reference":[{"issue":"6","key":"2020022913594220700_CIT0001","doi-asserted-by":"crossref","first-page":"907","DOI":"10.1002\/hed.23436","article-title":"Genetics of hereditary head and neck paragangliomas","volume":"36","author":"Boedeker","year":"2014","journal-title":"Head Neck."},{"issue":"2","key":"2020022913594220700_CIT0002","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1038\/nrendo.2014.188","article-title":"Paraganglioma and phaeochromocytoma: from genetics to personalized medicine","volume":"11","author":"Favier","year":"2015","journal-title":"Nat Rev Endocrinol."},{"issue":"4","key":"2020022913594220700_CIT0003","doi-asserted-by":"crossref","first-page":"233","DOI":"10.1038\/nrendo.2016.185","article-title":"Consensus Statement on next-generation-sequencing-based diagnostic testing of hereditary 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