{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T21:31:57Z","timestamp":1740173517347,"version":"3.37.3"},"reference-count":37,"publisher":"Endocrinology Research Centre","issue":"3","license":[{"start":{"date-parts":[[2023,10,15]],"date-time":"2023-10-15T00:00:00Z","timestamp":1697328000000},"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><jats:bold>BACKGROUND:\u00a0<\/jats:bold>Primary hyperparathyroidism (PHPT) is an endocrine disorder characterized by excessive secretion of parathyroid hormone (PTH) with upper-normal or elevated blood calcium levels due to primary thyroid gland pathology. PHPT is a rare pathology in children, with a prevalence of 2\u20135:100,000 children according to the literature. Due to the non-specificity of clinical manifestations at onset (nausea, vomiting, abdominal pain, emotional lability), the disease may remain undiagnosed for a long time.<\/jats:p><jats:p><jats:bold>AIM:\u00a0<\/jats:bold>To study the features of the course and molecular genetic basis of primary hyperparathyroidism in children.<\/jats:p><jats:p><jats:bold>MATERIALS AND METHODS:\u00a0<\/jats:bold>Retrospective observational study of 49 patients diagnosed with primary hyperparathyroidism. All patients underwent a comprehensive laboratory-instrumental and molecular genetic study at the Institute of Pediatric Endocrinology, Endocrinology Research Center of Russia in the period 2014\u20132022.<\/jats:p><jats:p><jats:bold>RESULTS:\u00a0<\/jats:bold>The first clinical symptoms of PHPT were noted at the age of 13.8 years [10.6; 1 5.2], among which fatigue, headaches, dyspepsia, lower limb pain, and fractures were the most common. The age of diagnosis was 15.81 years [13.1; 16.8], all children were found to have high levels of PTH, total and ionized calcium, with hypophosphatemia in 93.9% of patients (n=46) and hypercalciuria in 43% (n=21). Five out of 49 patients (10.2%) were found to have ectopy of the thyroid: 3 showed an intrathyroidal location, 2 in the mediastinal region. Molecular genetic study revealed mutations in 32.7% of patients (n=16, CI (21; 47)), mutations in\u00a0<jats:italic>MEN1<\/jats:italic>\u00a0being the most frequent (n=11). Pathogenic variants in\u00a0<jats:italic>CDC73<\/jats:italic>\u00a0were detected in 3\u00a0patients,\u00a0<jats:italic>RET \u2014\u00a0<\/jats:italic>in 2. Among the operated 39 patients, adenoma of the thyroid was detected in 84.6% of cases (n=33), hyperplasia in 7.7% (n=3), atypical adenoma in 5.1% (n=2), carcinoma in 5.1% of cases (n=2).<\/jats:p><jats:p><jats:bold>CONCLUSION:<jats:italic>\u00a0<\/jats:italic><\/jats:bold>The paper presents the peculiarities of the course and the results of molecular genetic study of pediatric PHPT. This sample is the largest among those published in the Russian Federation.<\/jats:p>","DOI":"10.14341\/probl13382","type":"journal-article","created":{"date-parts":[[2024,7,15]],"date-time":"2024-07-15T15:09:14Z","timestamp":1721056154000},"page":"74-82","update-policy":"https:\/\/doi.org\/10.14341\/crossmarkpolicy2018","source":"Crossref","is-referenced-by-count":0,"title":["Primary hyperparathyroidism in children"],"prefix":"10.14341","volume":"70","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8187-947X","authenticated-orcid":true,"given":"A. R.","family":"Benina","sequence":"first","affiliation":[{"name":"Endocrinology Research Center"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7736-5372","authenticated-orcid":true,"given":"A. A.","family":"Kolodkina","sequence":"additional","affiliation":[{"name":"Endocrinology Research Center"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8500-4841","authenticated-orcid":true,"given":"A. N.","family":"Tiul\u2019pakov","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics; \r\nRussian Children\u2019s Clinical Hospital"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2000-7694","authenticated-orcid":true,"given":"N. Yu.","family":"Kalinchenko","sequence":"additional","affiliation":[{"name":"Endocrinology Research Center"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3734-6510","authenticated-orcid":true,"given":"D. M.","family":"Brovin","sequence":"additional","affiliation":[{"name":"Endocrinology Research Center"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5656-1382","authenticated-orcid":true,"given":"A. V.","family":"Anikiev","sequence":"additional","affiliation":[{"name":"Endocrinology Research Center"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5656-1382","authenticated-orcid":true,"given":"O. S.","family":"Danilenko","sequence":"additional","affiliation":[{"name":"Endocrinology Research Center"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3785-0335","authenticated-orcid":true,"given":"M. S.","family":"Sheremeta","sequence":"additional","affiliation":[{"name":"Endocrinology Research Center"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5949-5317","authenticated-orcid":true,"given":"V. V.","family":"Zakharova","sequence":"additional","affiliation":[{"name":"Endocrinology Research Center"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2406-9016","authenticated-orcid":true,"given":"E. N.","family":"Solodovnikova","sequence":"additional","affiliation":[{"name":"Endocrinology Research Center"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9621-5732","authenticated-orcid":true,"given":"O. B.","family":"Bezlepkina","sequence":"additional","affiliation":[{"name":"Endocrinology Research Center"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"5458","published-online":{"date-parts":[[2023,10,15]]},"reference":[{"key":"ref1","doi-asserted-by":"crossref","unstructured":"Mokrysheva N.G., Eremkina A.K., Mirnaia S.S. et al Klinicheskie rekomendatsii po pervichnomu giperparatireozu, kratkaia versiia. 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