{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,28]],"date-time":"2026-07-28T07:02:26Z","timestamp":1785222146999,"version":"3.55.0"},"reference-count":9,"publisher":"Endocrinology Research Centre","issue":"3","license":[{"start":{"date-parts":[[2026,7,22]],"date-time":"2026-07-22T00:00:00Z","timestamp":1784678400000},"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>Microcephalic osteodysplastic primary dwarfism type II (MOPDII) is a form of primordial nanism characterized by extreme short stature, microcephaly, specific phenotype, maxillofacial dysmorphisms, skeletal dysplasia, disorders of carbohydrate metabolism, and neurovascular abnormalities. This article describes a patient with a Seckel syndrome phenotype presenting with left internal carotid artery aneurysms with intracerebral hemorrhages, thrombocytosis, arterial hypertension, and diabetes mellitus due to insulin resistance confirmed by a low Matsuda index. Target carbohydrate metabolism values were achieved on metformin therapy. Clinical exome sequencing revealed two rare heterozygous variants in the PCNT gene: c.6220C&gt;T (p.Gln2074*) and c.4564-12T&gt;A. Comparison of the results of the molecular genetic study and the patient\u2019s phenotype allowed us to verify the diagnosis of MOPDII. Hypergonadotropic hypogonadism was described for the first time in this syndrome.<\/jats:p>","DOI":"10.14341\/probl13554","type":"journal-article","created":{"date-parts":[[2026,7,27]],"date-time":"2026-07-27T14:47:35Z","timestamp":1785163655000},"page":"80-85","update-policy":"https:\/\/doi.org\/10.14341\/crossmarkpolicy2018","source":"Crossref","is-referenced-by-count":0,"title":["Microcephalic osteodysplastic primary dwarfism type II with hypergonadotropic hypogonadism in a 16-year-old patient"],"prefix":"10.14341","volume":"72","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0923-6223","authenticated-orcid":true,"given":"V. V.","family":"Platonov","sequence":"first","affiliation":[{"name":"Children\u2019s municipal multi-specialty clinical center of high medical technology named after K.A. Rauhfus"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0002-5166-7166","authenticated-orcid":true,"given":"E. D.","family":"Noskova","sequence":"additional","affiliation":[{"name":"Children\u2019s municipal multi-specialty clinical center of high medical technology named after K.A. Rauhfus"},{"name":"Saint-Petersburg State Pediatric Medical University"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7906-7408","authenticated-orcid":true,"given":"Yu. L.","family":"Skorodok","sequence":"additional","affiliation":[{"name":"Saint-Petersburg State Pediatric Medical University"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1104-7368","authenticated-orcid":true,"given":"E. V.","family":"Plotnikova","sequence":"additional","affiliation":[{"name":"Saint-Petersburg State Pediatric Medical University"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9764-2090","authenticated-orcid":true,"given":"E. N.","family":"Suspitsin","sequence":"additional","affiliation":[{"name":"Saint-Petersburg State Pediatric Medical University"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T. V.","family":"Yakovleva","sequence":"additional","affiliation":[{"name":"Children\u2019s municipal multi-specialty clinical center of high medical technology named after K.A. Rauhfus"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F. Z.","family":"Tsoraeva","sequence":"additional","affiliation":[{"name":"Children\u2019s municipal multi-specialty clinical center of high medical technology named after K.A. Rauhfus"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M. A.","family":"Polanskaya","sequence":"additional","affiliation":[{"name":"Children\u2019s municipal multi-specialty clinical center of high medical technology named after K.A. Rauhfus"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sh. A.","family":"Jamiyeva","sequence":"additional","affiliation":[{"name":"Children\u2019s municipal multi-specialty clinical center of high medical technology named after K.A. Rauhfus"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"5458","published-online":{"date-parts":[[2026,7,22]]},"reference":[{"key":"ref1","doi-asserted-by":"crossref","unstructured":"Bober MB, Jackson AP. Microcephalic osteodysplastic primordial dwarfism, type II: a clinical review. Curr Osteoporos Rep. 2017;15:61\u20139. doi: https:\/\/doi.org\/10.1007\/s11914-017-0348-1","DOI":"10.1007\/s11914-017-0348-1"},{"key":"ref2","doi-asserted-by":"crossref","unstructured":"Majewski F, Goecke T. Studies of microcephalic primordial dwarfism I: approach to delineation of the Seckel syndrome. Am J Med Genet. 1982;12:7\u201321. doi: https:\/\/doi.org\/10.1002\/ajmg.1320120103","DOI":"10.1002\/ajmg.1320120103"},{"key":"ref3","doi-asserted-by":"crossref","unstructured":"Rauch A, Thiel CT, Schindler D, et al. Mutations in the Pericentrin (PCNT) gene cause primordial dwarfism. Science. 2008;319:816\u2013819. doi: https:\/\/doi.org\/10.1126\/science.1151174","DOI":"10.1126\/science.1151174"},{"key":"ref4","unstructured":"Gamisoniya AM. Sindrom Sekkelya:\/\/ GENOKARTA Geneticheskaya enciklopediya. 2021. (In Russ.)"},{"key":"ref5","doi-asserted-by":"crossref","unstructured":"Pachajoa H, Ruiz-Botero F, Isaza C. A new mutation of the PCNT gene in a Colombian patient with microcephalic osteodysplastic primordial dwarfism type II: a case report. J Med Case Rep. 2014;8:191. doi: https:\/\/doi.org\/10.1186\/1752-1947-8-191","DOI":"10.1186\/1752-1947-8-191"},{"key":"ref6","doi-asserted-by":"crossref","unstructured":"Huang-Doran I, Bicknell LS, Finucane FM, et al. Genetic defects in human pericentrin are associated with severe insulin resistance and diabetes. Diabetes. 2011;60(3):925\u201335. doi: https:\/\/doi.org\/10.2337\/db10-1334","DOI":"10.2337\/db10-1334"},{"key":"ref7","doi-asserted-by":"crossref","unstructured":"Duker AL, Kinderman D, Jordan C et al. Microcephalic osteodysplastic primordial dwarfism type II is associated with global vascular disease. Orphanet J Rare Dis. 2021;16:231 doi: https:\/\/doi.org\/10.1186\/s13023-021-01852-y","DOI":"10.1186\/s13023-021-01852-y"},{"key":"ref8","doi-asserted-by":"crossref","unstructured":"Aleksandrov AA, Kisliak OA, Leontyeva IV. Clinical guidelines on arterial hypertension diagnosis, treatment and prevention in children and adolescents. Systemic Hypertension. 2020;17(2):7-35. (In Russ.) doi: https:\/\/doi.org\/10.26442\/2075082X.2020.2.200126","DOI":"10.26442\/2075082X.2020.2.200126"},{"key":"ref9","doi-asserted-by":"crossref","unstructured":"Bober MB, Niiler T, Duker AL et al. Growth in individuals with Majewski osteodysplastic primordial dwarfism type II caused by pericentrin mutations. Am J Med Genet A. 2012;158A:2719\u201325. doi: https:\/\/doi.org\/10.1002\/ajmg.a.35447","DOI":"10.1002\/ajmg.a.35447"}],"container-title":["Problems of Endocrinology"],"original-title":[],"link":[{"URL":"https:\/\/www.probl-endojournals.ru\/jour\/article\/viewFile\/13554\/11016","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,7,28]],"date-time":"2026-07-28T06:48:30Z","timestamp":1785221310000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.probl-endojournals.ru\/jour\/article\/view\/13554"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,7,22]]},"references-count":9,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2026,7,22]]}},"URL":"https:\/\/doi.org\/10.14341\/probl13554","relation":{},"ISSN":["2308-1430","0375-9660"],"issn-type":[{"value":"2308-1430","type":"electronic"},{"value":"0375-9660","type":"print"}],"subject":[],"published":{"date-parts":[[2026,7,22]]}}}