{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,14]],"date-time":"2025-11-14T17:38:17Z","timestamp":1763141897668,"version":"3.44.0"},"reference-count":7,"publisher":"SMC Media","issue":"9","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"abstract":"<jats:p>A 22-year-old female presented with a twelve-year history of intensifying paroxysms of anxiety, palpitations and recurrent syncope following micturition. The patient was referred to endocrinology upon discovery of hypertension. Extended family history revealed metastatic phaeochromocytoma and paraganglioma in two grand-uncles. Clinical examination revealed hypertension, mean 24hr ambulatory blood pressure of 150\/100mmHg. Supine plasma normetanephrines were markedly elevated with a raised 3-methoxytyramine, plasma metanephrines were normal. Computed tomography identified a 4.4cm mass at the right inferolateral margin of the bladder wall. Scintigraphic imaging confirmed unifocal bladder lesion uptake with no additional metastatic lesions.\u00a0 Following pre-operative alpha blockade, the patient underwent a partial cystectomy. Histology confirmed a paraganglioma, SDHB staining was lost in neoplastic cells consistent with an SDHB-related paraganglioma. Plasma normetanephrine, 3-methoxytyramine and blood pressure returned to normal postoperatively. Genetic screening identified a germ line heterozygous SDHB gene variant c.723C&gt;G. Bladder paragangliomas are a rare but important differential to consider when investigating post-micturition syncope. Extended family history should be sought and suspicion for a genetic cause should be raised, especially when presenting at a young age. This is the first reported case describing phaeochromocytoma or paraganglioma with the SDHB gene variant c.723C&gt;G.<\/jats:p>","DOI":"10.12890\/2022_003537","type":"journal-article","created":{"date-parts":[[2022,9,28]],"date-time":"2022-09-28T03:11:07Z","timestamp":1664334667000},"source":"Crossref","is-referenced-by-count":2,"title":["Bladder Paraganglioma Presenting as Post-Micturition Syncope"],"prefix":"10.12890","volume":"9","author":[{"given":"Maria","family":"Tomkins","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Diabetes Mellitus, Beaumont Hospital, Dublin, Ireland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mark","family":"McCabe","sequence":"additional","affiliation":[{"name":"Department of Histopathology, Beaumont Hospital, Dublin, Ireland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stephen","family":"Crowther","sequence":"additional","affiliation":[{"name":"Department of Histopathology, Tallaght University Hospital, Dublin, Ireland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Clive","family":"Kilgallen","sequence":"additional","affiliation":[{"name":"Department of Histopathology, Beaumont Hospital, Dublin, Ireland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dilly","family":"Little","sequence":"additional","affiliation":[{"name":"Department of Kidney Transplantation, Nephrology and Urology, Beaumont Hospital, Dublin, Ireland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Diarmuid","family":"Smith","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Diabetes Mellitus, Beaumont Hospital, Dublin, Ireland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amar","family":"Agha","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Diabetes Mellitus, Beaumont Hospital, Dublin, Ireland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"10397","published-online":{"date-parts":[[2022,9,28]]},"reference":[{"key":"10.12890\/2022_003537_ref1","doi-asserted-by":"crossref","unstructured":"<li>Park J, Jang SY, Yim HR, On YK, Huh J, Shin DH, et al. Gender difference in patients with recurrent neurally mediated syncope. <em>Yonsei Med J<\/em> 2010;<strong>51<\/strong>(4):499\u2013503.<\/li>","DOI":"10.3349\/ymj.2010.51.4.499"},{"key":"10.12890\/2022_003537_ref2","doi-asserted-by":"crossref","unstructured":"<li>Lenders JWM, Duh Q-Y, Eisenhofer G, Gimenez-Roqueplo A-P, Grebe SKG, Murad MH, et al. Pheochromocytoma and paraganglioma: an Endocrine Society clinical practice guideline.<em> J Clin Endocrinol Metabol<\/em> 2014;<strong>99<\/strong>(6):1915\u20131942.<\/li>","DOI":"10.1210\/jc.2014-1498"},{"key":"10.12890\/2022_003537_ref3","doi-asserted-by":"crossref","unstructured":"<li>Priyadarshi V, Pal DK. Paraganglioma of urinary bladder. <em>Urol Ann<\/em> 2015;<strong>7<\/strong>(3):402\u2013404.<\/li>","DOI":"10.4103\/0974-7796.152058"},{"key":"10.12890\/2022_003537_ref4","doi-asserted-by":"crossref","unstructured":"<li>Erickson D, Kudva YC, Ebersold MJ, Thompson GB, Grant CS, van Heerden JA, et al. Benign paragangliomas: clinical presentation and treatment outcomes in 236 patients.<em>J Clin Endocrinol Metabol<\/em> 2001;<strong>86<\/strong>(11):5210\u20135216.<\/li>","DOI":"10.1210\/jcem.86.11.8034"},{"key":"10.12890\/2022_003537_ref5","unstructured":"<li>DeLellis RA, Lloyd RV, Heitz PU, Eng C. WHO Classification of Tumours: Pathology and genetics of tumours of endocrine organs. Lyon, France: IARC Press; 2004.<\/li>"},{"key":"10.12890\/2022_003537_ref6","unstructured":"<li>Yu K, Ebbeh\u00f8j AL, Obeid H, Vaidya A, Else T, Wachtel H, et al. Presentation, management, and outcomes of urinary bladder paraganglioma: results from a multicenter study. <em>J Clin Endocrinol Metabol<\/em> 2022 Jul 26;dgac427.<\/li>"},{"key":"10.12890\/2022_003537_ref7","doi-asserted-by":"crossref","unstructured":"<li>Casey R, Neumann HPH, Maher ER. Genetic stratification of inherited and sporadic phaeochromocytoma and paraganglioma: implications for precision medicine. <em>Hum Mol Genet<\/em> 2020;<strong>29<\/strong>(R2):R128\u2013R137.<\/li>","DOI":"10.1093\/hmg\/ddaa201"}],"container-title":["European Journal of Case Reports in Internal Medicine"],"original-title":[],"link":[{"URL":"https:\/\/www.ejcrim.com\/index.php\/EJCRIM\/article\/download\/3537\/3246","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.ejcrim.com\/index.php\/EJCRIM\/article\/download\/3537\/3247","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.ejcrim.com\/index.php\/EJCRIM\/article\/download\/3537\/3247","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,21]],"date-time":"2025-08-21T14:04:41Z","timestamp":1755785081000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ejcrim.com\/index.php\/EJCRIM\/article\/view\/3537"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,9,28]]},"references-count":7,"journal-issue":{"issue":"9","published-online":{"date-parts":[[2022]]}},"URL":"https:\/\/doi.org\/10.12890\/2022_003537","relation":{"has-manifestation":[{"id-type":"other","id":"1-90-3537-g3246","asserted-by":"subject"},{"id-type":"other","id":"1-90-3537-g3247","asserted-by":"subject"}],"is-part-of":[{"id-type":"other","id":"1-90","asserted-by":"subject"}]},"ISSN":["2284-2594"],"issn-type":[{"type":"electronic","value":"2284-2594"}],"subject":[],"published":{"date-parts":[[2022,9,28]]},"article-number":"19"}}