{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,20]],"date-time":"2025-12-20T22:13:14Z","timestamp":1766268794896,"version":"3.37.3"},"reference-count":15,"publisher":"Endocrinology Research Centre","issue":"1","license":[{"start":{"date-parts":[[2024,2,28]],"date-time":"2024-02-28T00:00:00Z","timestamp":1709078400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.probl-endojournals.ru\/jour\/about\/editorialPolicies#openAccessPolicy"}],"content-domain":{"domain":["www.probl-endojournals.ru"],"crossmark-restriction":true},"short-container-title":["Probl Endokrinol (Mosk)"],"abstract":"<jats:p>The description of the child aged 5 months with the von Hippel-Lindau syndrome without any manifestations of this syndrome is presented. The reason for the molecular genetic examination was the presence of cases of this syndrome in the family (mother and sister). The heterozygous variant c.355T&gt;C p.F119L was found in the <jats:italic>VHL<\/jats:italic> gene. An objective examination revealed no pathology. A comprehensive laboratory and instrumental examination aimed at searching for components of the von Hippel-Lindau syndrome, including a blood test for metanephrines and normetanephrines, ultrasound of the abdominal organs, examination of the fundus, also did not reveal any abnormalities. Given the results of molecular genetic diagnosis, the child remains under observation and will undergo regular examinations to identify components of the von Hippel-Lindau syndrome, including blood\/urine tests for normetanephrines.<\/jats:p>","DOI":"10.14341\/probl13280","type":"journal-article","created":{"date-parts":[[2024,2,29]],"date-time":"2024-02-29T14:30:59Z","timestamp":1709217059000},"page":"100-104","update-policy":"https:\/\/doi.org\/10.14341\/crossmarkpolicy2018","source":"Crossref","is-referenced-by-count":1,"title":["Preclinical diagnostics of von Hippel-Lindau syndrome in a child"],"prefix":"10.14341","volume":"70","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2599-0867","authenticated-orcid":true,"given":"O. A.","family":"Malievskiy","sequence":"first","affiliation":[{"name":"Bashkir State Medical University"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9841-0611","authenticated-orcid":true,"given":"R. I.","family":"Malievskaya","sequence":"additional","affiliation":[{"name":"Bashkir State Medical University"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0522-7442","authenticated-orcid":true,"given":"V. A.","family":"Malievskiy","sequence":"additional","affiliation":[{"name":"Bashkir State Medical University"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8500-4841","authenticated-orcid":true,"given":"A. N.","family":"Tulpakov","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics; Russian Children\u2019s Clinical Hospital"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"5458","published-online":{"date-parts":[[2024,2,28]]},"reference":[{"key":"ref1","doi-asserted-by":"crossref","unstructured":"Pamporaki C, Hamplova B, Peitzsch M, et al. Characteristics of Pediatric vs Adult Pheochromocytomas and Paragangliomas. 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