{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,20]],"date-time":"2026-07-20T14:16:20Z","timestamp":1784556980962,"version":"3.55.0"},"reference-count":0,"publisher":"Bioscientifica","issue":"8","license":[{"start":{"date-parts":[[2017,11,1]],"date-time":"2017-11-01T00:00:00Z","timestamp":1509494400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["ec.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2017,11]]},"abstract":"\n Background<\/jats:title>\n Primary hyperparathyroidism (PHPT) is a relatively rare disorder among children, adolescents and young adults. Its development at an early age is suspicious for hereditary causes, though the need for routine genetic testing remains controversial.<\/jats:p>\n <\/jats:sec>\n \n Objective<\/jats:title>\n To identify and describe hereditary forms of PHPT in patients with manifestation of the disease under 40 years of age.<\/jats:p>\n <\/jats:sec>\n \n Design<\/jats:title>\n \n We enrolled 65 patients with PHPT diagnosed before 40 years of age. Ten of them had\n MEN1<\/jats:italic>\n mutation, and PHPT in them was the first manifestation of multiple endocrine neoplasia type 1 syndrome.\n <\/jats:p>\n <\/jats:sec>\n \n Methods<\/jats:title>\n \n The other fifty-five patients underwent next-generation sequencing (NGS) of a custom-designed panel of genes, associated with PHPT (\n MEN1<\/jats:italic>\n ,\n CASR<\/jats:italic>\n ,\n CDC73<\/jats:italic>\n ,\n CDKN1A<\/jats:italic>\n ,\n CDKN1B<\/jats:italic>\n ,\n CDKN1C<\/jats:italic>\n ,\n CDKN2A<\/jats:italic>\n ,\n CDKN2C<\/jats:italic>\n ,\n CDKN2D<\/jats:italic>\n ). In cases suspicious for gross\n CDC73<\/jats:italic>\n deletions multiplex ligation-dependent probe amplification was performed.\n <\/jats:p>\n <\/jats:sec>\n \n Results<\/jats:title>\n \n NGS revealed six pathogenic or likely pathogenic germline sequence variants: four in\n CDC73<\/jats:italic>\n c.271C>T (p.Arg91*), c.496C>T (p.Gln166*), c.685A>T (p.Arg229*) and c.787C>T (p.Arg263Cys); one in\n CASR<\/jats:italic>\n c.3145G>T (p.Glu1049*) and one in\n MEN1<\/jats:italic>\n c.784-9G>A. In two patients, MLPA confirmed gross\n CDC73<\/jats:italic>\n deletions. In total, 44 sporadic and 21 hereditary PHPT cases were identified. Parathyroid carcinomas and atypical parathyroid adenomas were present in 8\/65 of young patients, in whom\n CDC73<\/jats:italic>\n mutations were found in 5\/8.\n <\/jats:p>\n <\/jats:sec>\n \n Conclusions<\/jats:title>\n \n Hereditary forms of PHPT can be identified in up to 1\/3 of young patients with manifestation of the disease at <40 years of age. Parathyroid carcinomas or atypical parathyroid adenomas in young patients are frequently associated with\n CDC73<\/jats:italic>\n mutations.\n <\/jats:p>\n <\/jats:sec>","DOI":"10.1530\/ec-17-0126","type":"journal-article","created":{"date-parts":[[2017,9,4]],"date-time":"2017-09-04T20:10:18Z","timestamp":1504555818000},"page":"557-565","update-policy":"https:\/\/doi.org\/10.1530\/crossmarkpolicy-10","source":"Crossref","is-referenced-by-count":21,"title":["Primary hyperparathyroidism in young patients in Russia: high frequency of hyperparathyroidism-jaw tumor syndrome"],"prefix":"10.1530","volume":"6","author":[{"given":"Elizaveta","family":"Mamedova","sequence":"first","affiliation":[{"name":"1Department of Neuroendocrinology and Bone Diseases, Endocrinology Research Center, Moscow, Russian Federation"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Natalya","family":"Mokrysheva","sequence":"additional","affiliation":[{"name":"2Department of Parathyroid Diseases, Endocrinology Research Center, Moscow, Russian Federation"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Evgeny","family":"Vasilyev","sequence":"additional","affiliation":[{"name":"3Department and Laboratory of Inherited Endocrine Disorders, Endocrinology Research Center, Moscow, Russian Federation"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vasily","family":"Petrov","sequence":"additional","affiliation":[{"name":"3Department and Laboratory of Inherited Endocrine Disorders, Endocrinology Research Center, Moscow, Russian Federation"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ekaterina","family":"Pigarova","sequence":"additional","affiliation":[{"name":"1Department of Neuroendocrinology and Bone Diseases, Endocrinology Research Center, Moscow, Russian Federation"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sergey","family":"Kuznetsov","sequence":"additional","affiliation":[{"name":"4Department of Surgery, Endocrinology Research Center, Moscow, Russian Federation"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nikolay","family":"Kuznetsov","sequence":"additional","affiliation":[{"name":"4Department of Surgery, Endocrinology Research Center, Moscow, Russian Federation"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liudmila","family":"Rozhinskaya","sequence":"additional","affiliation":[{"name":"1Department of Neuroendocrinology and Bone Diseases, Endocrinology Research Center, Moscow, Russian Federation"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Galina","family":"Melnichenko","sequence":"additional","affiliation":[{"name":"5I.M. Sechenov First Moscow State Medical University, Moscow, Russian Federation"},{"name":"6Institute of Clinical Endocrinology, Endocrinology Research Center, Moscow, Russian Federation"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ivan","family":"Dedov","sequence":"additional","affiliation":[{"name":"7Endocrinology Research Center, Moscow, Russian Federation"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anatoly","family":"Tiulpakov","sequence":"additional","affiliation":[{"name":"3Department and Laboratory of Inherited Endocrine Disorders, Endocrinology Research Center, Moscow, Russian Federation"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"416","container-title":["Endocrine Connections"],"original-title":[],"link":[{"URL":"https:\/\/ec.bioscientifica.com\/view\/journals\/ec\/6\/8\/EC-17-0126.xml","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/ec.bioscientifica.com\/downloadpdf\/journals\/ec\/6\/8\/EC-17-0126.xml","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,7,20]],"date-time":"2026-07-20T13:42:18Z","timestamp":1784554938000},"score":1,"resource":{"primary":{"URL":"http:\/\/journals.bioscientifica.com\/ec\/article\/6\/8\/557-565\/35300"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,11]]},"references-count":0,"journal-issue":{"issue":"8"},"URL":"https:\/\/doi.org\/10.1530\/ec-17-0126","relation":{},"ISSN":["2049-3614"],"issn-type":[{"value":"2049-3614","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,11]]}}}