{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,20]],"date-time":"2026-05-20T05:35:36Z","timestamp":1779255336760,"version":"3.51.4"},"reference-count":41,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2023,12,8]],"date-time":"2023-12-08T00:00:00Z","timestamp":1701993600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Endocrinol."],"abstract":"<jats:sec><jats:title>Introduction<\/jats:title><jats:p>Head and neck paragangliomas (HNPGLs) are rare neuroendocrine tumors, which are mostly benign in nature. Amongst all genes, Succinate Dehydrogenase Subunit D (<jats:italic>SDHD<\/jats:italic>) is the most commonly mutated in familial HNPGLs. In about 30% of HNPGLs, germline mutations in <jats:italic>SDHD<\/jats:italic> can also occur in the absence of positive family history, thus giving rise to \u201coccult familial\u201d cases. Our aim was to evaluate the pattern of <jats:italic>SDHD<\/jats:italic> germline mutations in Czech patients with HNPGLs.<\/jats:p><\/jats:sec><jats:sec><jats:title>Materials and methods<\/jats:title><jats:p>We analyzed a total of 105 patients with HNPGLs from the Otorhinolaryngology departments of 2 tertiary centers between 2006 \u2013 2021. All underwent complex diagnostic work-up and were also consented for genetic analysis.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Eighty patients aged 13-76 years were included; around 60% with multiple PGLs were males. Carotid body tumor was the most frequently diagnosed tumor. Germline <jats:italic>SDHD<\/jats:italic> mutation was found in only 12% of the Czech patients; approximately 78% of those harboring the mutation had negative family history. The mutation traits had higher affiliation for multiple tumors with nearly 70% patients of \u2264 40 years of age.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>An <jats:italic>SDHD<\/jats:italic> mutation variant was shared amongst unrelated patients but no founder-effect was established. Our findings confirmed that the pattern of <jats:italic>SDHD<\/jats:italic> mutation distribution amongst HNPGLs in Czech Republic differs from most studies worldwide.<\/jats:p><\/jats:sec>","DOI":"10.3389\/fendo.2023.1278175","type":"journal-article","created":{"date-parts":[[2023,12,8]],"date-time":"2023-12-08T11:17:51Z","timestamp":1702034271000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":5,"title":["High incidence of occult familial SDHD cases amongst Czech patients with head and neck 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