{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,29]],"date-time":"2026-01-29T23:05:13Z","timestamp":1769727913944,"version":"3.49.0"},"reference-count":23,"publisher":"Endocrinology Research Centre","issue":"5","license":[{"start":{"date-parts":[[2025,12,2]],"date-time":"2025-12-02T00:00:00Z","timestamp":1764633600000},"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>\n                    24-hydroxylase deficiency (or infantile hypercalcemia type 1) is an inherited disease associated with biallelic loss-of-function\n                    <jats:italic>CYP24A1<\/jats:italic>\n                    mutations lead to impaired inactivation of vitamin D metabolites and characterised hypercalcemia, nephrocalcinosis and\/or urolithiasis. We present 44 patients, the largest group (n=41) consisted of children. The main complaints at the time of examination was: weight loss, refusal to eat, delayed physical and\/or psychomotor development, signs of urinary tract infection and\/or nephrocalcinosis (in adults \u2014 urolithiasis). Hypercalcemia was detected in 88.6%, with Me 2.9 [2.65; 4.03] mmol\/L. Me of the 25(OH)D3:24.25(OH)2D3 ratio was 340.65 [132.2; 630.75] (n=10). Hypercalciuria was detected in 59%, nephrocalcinosis or urolithiasis in 95% of cases. Frequent mutations in the\n                    <jats:italic>CYP24A1<\/jats:italic>\n                    gene were p.Arg396Trp (66%) and p.Glu143del. (27%). Incidence of 24-hydroxylase deficiency in Russian population was 1:10900 estimated on the basis of these alleles of\n                    <jats:italic>CYP24A1<\/jats:italic>\n                    , overall carrier frequency for these mutations in\n                    <jats:italic>CYP24A1<\/jats:italic>\n                    was 1 in 53 people. In conclusion, we propose to conduct molecular testing for the presence of pathogenic variants p.Arg396Trp and p.Glu143del in\n                    <jats:italic>CYP24A1<\/jats:italic>\n                    during neonatal screening, due to the high expected frequency of 24-hydroxylase deficiency and heterozygous carriage of pathogenic variants of\n                    <jats:italic>CYP24A1<\/jats:italic>\n                    in Russia.\n                  <\/jats:p>","DOI":"10.14341\/probl13561","type":"journal-article","created":{"date-parts":[[2025,12,4]],"date-time":"2025-12-04T08:51:37Z","timestamp":1764838297000},"page":"31-39","update-policy":"https:\/\/doi.org\/10.14341\/crossmarkpolicy2018","source":"Crossref","is-referenced-by-count":0,"title":["Does everyone need to take vitamin D? High prevalence of CYP24A1 deficiency in the Russian population"],"prefix":"10.14341","volume":"71","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0434-9088","authenticated-orcid":true,"given":"K. S.","family":"Kulikova","sequence":"first","affiliation":[{"name":"Centre for Medical Genetics;\r\nEndocrinology Research Centre;\r\nRussian Children\u2019s Clinical Hospital - Pirogov Russian National Research Medical University"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6459-2795","authenticated-orcid":true,"given":"S. V.","family":"Papizh","sequence":"additional","affiliation":[{"name":"Veltischev Research Clinical Institute for Pediatrics and Pediatric Surgery"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0105-1833","authenticated-orcid":true,"given":"A. V.","family":"Polyakov","sequence":"additional","affiliation":[{"name":"Centre for Medical Genetics"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0972-5118","authenticated-orcid":true,"given":"A. V.","family":"Marakhonov","sequence":"additional","affiliation":[{"name":"Centre for Medical Genetics"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7369-6948","authenticated-orcid":true,"given":"N. S.","family":"Beskorovainiy","sequence":"additional","affiliation":[{"name":"Centre for Medical Genetics"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1974-8241","authenticated-orcid":true,"given":"M. V.","family":"Shumikhina","sequence":"additional","affiliation":[{"name":"N.F. Filatov Children City Hospital"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L. S.","family":"Sozaeva","sequence":"additional","affiliation":[{"name":"Endocrinology Research Centre"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8236-3662","authenticated-orcid":true,"given":"E. B.","family":"Frolova","sequence":"additional","affiliation":[{"name":"National Medical Research Center of Children Health"}],"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 Centre"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8610-821X","authenticated-orcid":true,"given":"E. A.","family":"Yanar","sequence":"additional","affiliation":[{"name":"Endocrinology Research Centre"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7041-0732","authenticated-orcid":true,"given":"L. Ya.","family":"Rozhinskaya","sequence":"additional","affiliation":[{"name":"Endocrinology Research Centre"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7747-6873","authenticated-orcid":true,"given":"Yu. V.","family":"Tikhonovich","sequence":"additional","affiliation":[{"name":"I.M. Sechenov First Moscow State Medical University (Sechenov University)"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6377-9056","authenticated-orcid":true,"given":"V. P.","family":"Bogdanov","sequence":"additional","affiliation":[{"name":"Moscow Institute of Physics and Technology;\r\nFederal Research Center for Innovator and Emerging Biomedical and Pharmaceutical Technologies"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9002-1662","authenticated-orcid":true,"given":"V. 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