{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,22]],"date-time":"2025-02-22T00:14:42Z","timestamp":1740183282959,"version":"3.37.3"},"reference-count":13,"publisher":"Maad Rayan Publishing Company","issue":"8","content-domain":{"domain":["journalaim.com"],"crossmark-restriction":false},"short-container-title":["Arch Iran Med"],"published-print":{"date-parts":[[2024,8,1]]},"abstract":"<jats:p>This case report presents a 10-year-old patient diagnosed with pheochromocytoma\/paraganglioma syndrome type 1 (PPGL1), underlined by a novel heterozygous pathogenic variant (c.154_161del, p.ser52Profster14) in the SDHD gene. Initially, the patient manifested symptoms unusual for pheochromocytoma, including polyuria and polydipsia; however, further diagnostic investigations revealed a pheochromocytoma (PCC) tumor in the adrenal gland. Subsequently, whole exome sequencing (WES) test identified a pathogenic frameshift variant in the SDHD gene, strongly suggestive of PPGL1. This study highlights the importance of considering atypical symptoms in diagnosing rare pediatric pheochromocytoma\/paraganglioma tumors and underscores the value of genetic testing in identifying underlying genetic causes, thereby facilitating personalized management of the condition.<\/jats:p>","DOI":"10.34172\/aim.28810","type":"journal-article","created":{"date-parts":[[2024,9,9]],"date-time":"2024-09-09T05:38:51Z","timestamp":1725860331000},"page":"447-451","update-policy":"https:\/\/doi.org\/10.34172\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Pheochromocytoma\/Paraganglioma Syndrome Type 1 Presenting with Atypical Symptoms and a Novel Pathogenic Variant in the <i>SDHD<\/i> Gene: A Case Report"],"prefix":"10.34172","volume":"27","author":[{"ORCID":"https:\/\/orcid.org\/0009-0002-2096-5224","authenticated-orcid":true,"given":"Elham","family":"Zohrehvand","sequence":"first","affiliation":[{"name":"University of Social Welfare and Rehabilitation Sciences, Tehran, Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nastaran","family":"Injinari","sequence":"additional","affiliation":[{"name":"Diabetes Research Center, Shahid Sadoughi University of Medical Sciences, Yazd, Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maryam","family":"Kiani Feyzabadi","sequence":"additional","affiliation":[{"name":"Cellular and Molecular Research Center, Basic Health Sciences Institute, Shahrekord University of Medical Sciences, Shahrekord, Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kazem","family":"Aghili","sequence":"additional","affiliation":[{"name":"Department of Radiology, Shahid Sadoughi University of Medical Sciences, Yazd, Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Farahnaz","family":"Ghaemi","sequence":"additional","affiliation":[{"name":"Department of Biology, Kerman Branch, Islamic Azad University, Kerman, Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0996-045X","authenticated-orcid":true,"given":"Reyhaneh","family":"Azizi","sequence":"additional","affiliation":[{"name":"Diabetes Research Center, Shahid Sadoughi University of Medical Sciences, Yazd, Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"20123","published-online":{"date-parts":[[2024,8,1]]},"reference":[{"key":"R1","doi-asserted-by":"publisher","DOI":"10.3389\/fped.2017.00155"},{"key":"R2","doi-asserted-by":"publisher","DOI":"10.3390\/ijms23031450"},{"key":"R3","doi-asserted-by":"publisher","DOI":"10.1515\/enr-2017-0018"},{"key":"R4","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddaa201"},{"key":"R5","doi-asserted-by":"publisher","DOI":"10.1016\/j.beem.2020.101416"},{"key":"R6","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2350-6-39"},{"key":"R7","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23880"},{"key":"R8","doi-asserted-by":"publisher","DOI":"10.1530\/jme-22-0167"},{"key":"R9","doi-asserted-by":"publisher","DOI":"10.3389\/fendo.2015.00126"},{"key":"R10","doi-asserted-by":"publisher","DOI":"10.1002\/pbc.28332"},{"key":"R11","doi-asserted-by":"publisher","DOI":"10.3390\/jcm7090280"},{"key":"R12","doi-asserted-by":"publisher","DOI":"10.3389\/fendo.2022.1021420"},{"key":"R13","doi-asserted-by":"publisher","DOI":"10.3389\/fendo.2022.936178"}],"container-title":["Archives of Iranian Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journalaim.com\/PDF\/aim-27-447.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journalaim.com\/PDF\/aim-27-447.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,9,9]],"date-time":"2024-09-09T05:38:53Z","timestamp":1725860333000},"score":1,"resource":{"primary":{"URL":"https:\/\/journalaim.com\/Article\/aim-28810"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,8,1]]},"references-count":13,"journal-issue":{"issue":"8","published-online":{"date-parts":[[2024,8,1]]},"published-print":{"date-parts":[[2024,8,1]]}},"URL":"https:\/\/doi.org\/10.34172\/aim.28810","relation":{},"ISSN":["1029-2977","1735-3947"],"issn-type":[{"type":"print","value":"1029-2977"},{"type":"electronic","value":"1735-3947"}],"subject":[],"published":{"date-parts":[[2024,8,1]]},"assertion":[{"value":"Academy of Medical Sciences of I.R. Iran","name":"journal_owner","label":"Journal Owner"},{"value":"Academy of Medical Sciences of I.R. Iran","name":"journal_publisher","label":"Journal Publisher"},{"value":"2024-01-08","order":1,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-04-22","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-08-01","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}