{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,4]],"date-time":"2026-05-04T07:19:55Z","timestamp":1777879195972,"version":"3.51.4"},"reference-count":26,"publisher":"SAGE Publications","license":[{"start":{"date-parts":[[2026,2,20]],"date-time":"2026-02-20T00:00:00Z","timestamp":1771545600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2026,2,20]],"date-time":"2026-02-20T00:00:00Z","timestamp":1771545600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"funder":[{"DOI":"10.13039\/501100009092","name":"\u00c7ocuk Endokrinolojisi ve Diyabet Derne\u011fi","doi-asserted-by":"publisher","award":["This study was sponsored by the Turkish Society fo"],"award-info":[{"award-number":["This study was sponsored by the Turkish Society fo"]}],"id":[{"id":"10.13039\/501100009092","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Therapeutic Advances in Endocrinology"],"published-print":{"date-parts":[[2026,3]]},"abstract":"<jats:sec>\n                    <jats:title>Background:<\/jats:title>\n                    <jats:p>\n                      Loss-of-function alterations in\n                      <jats:italic toggle=\"yes\">Makorin Ring Finger Protein 3<\/jats:italic>\n                      (\n                      <jats:italic toggle=\"yes\">MKRN3<\/jats:italic>\n                      ) and\n                      <jats:italic toggle=\"yes\">Delta-like Non-Canonical Notch Ligand 1<\/jats:italic>\n                      (\n                      <jats:italic toggle=\"yes\">DLK1<\/jats:italic>\n                      ) genes are associated with familial central precocious puberty (CPP) and can result in reduced serum levels of these proteins.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objectives:<\/jats:title>\n                    <jats:p>This study aimed to evaluate the potential of serum MKRN3 and DLK1 levels for predicting genetic variants associated with CPP.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Design:<\/jats:title>\n                    <jats:p>Retrospective study.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods:<\/jats:title>\n                    <jats:p>\n                      This retrospective cross-sectional study included 26 girls with CPP: 11 receiving treatment (Group 1) and 15 not yet treated (Group 2). The control group consisted of 26 healthy girls. Serum MKRN3 and DLK1 levels were measured by ELISA, and\n                      <jats:italic toggle=\"yes\">MKRN3<\/jats:italic>\n                      and\n                      <jats:italic toggle=\"yes\">DLK1<\/jats:italic>\n                      genes were analyzed by Sanger sequencing.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results:<\/jats:title>\n                    <jats:p>\n                      A known pathogenic\n                      <jats:italic toggle=\"yes\">MKRN3<\/jats:italic>\n                      gene variant (c.482dupC\/p.(Ala162Glyfs*15)) was found in one patient with a notably low MKRN3 level of 0.127\u2009ng\/mL, consistent with paternal inheritance. Median MKRN3 and DLK1 levels were 1.32 (0.7) and 0.62 (0.4)\u2009ng\/mL in Group 1, and 1.2 (0.6) and 0.62 (0.2)\u2009ng\/mL in Group 2 (excluding the patient with the variant). No significant differences were observed between Group 1 and Group 2 (\n                      <jats:italic toggle=\"yes\">p<\/jats:italic>\n                      \u2009=\u20090.279;\n                      <jats:italic toggle=\"yes\">p<\/jats:italic>\n                      \u2009=\u20090.338). Control group median serum levels were 1.177 (0.76)\u2009ng\/mL for MKRN3 and 0.67 (0.44)\u2009ng\/mL for DLK1, with no significant differences from the CPP cohort (\n                      <jats:italic toggle=\"yes\">p<\/jats:italic>\n                      \u2009=\u20090.917;\n                      <jats:italic toggle=\"yes\">p<\/jats:italic>\n                      \u2009=\u20090.756).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion:<\/jats:title>\n                    <jats:p>\n                      MKRN3 and DLK1 levels do not significantly differ between treated, untreated CPP patients, and healthy controls. Identifying a known\n                      <jats:italic toggle=\"yes\">MKRN3<\/jats:italic>\n                      variant with low serum levels suggests serum measurements can help predict variants. Familial studies are recommended as these variants may be inherited even in isolated cases.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1177\/20420188261424161","type":"journal-article","created":{"date-parts":[[2026,2,20]],"date-time":"2026-02-20T11:09:04Z","timestamp":1771585744000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":0,"title":["Use of serum MKRN3 and DLK1 levels in precocious puberty: association with an MKRN3 pathogenic variant"],"prefix":"10.1177","volume":"17","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8842-1752","authenticated-orcid":false,"given":"Esin","family":"Karakilic-Ozturan","sequence":"first","affiliation":[{"name":"Department of Pediatric Endocrinology and Diabetes, Istanbul Faculty of Medicine, Istanbul University, Istanbul 34093, T\u00fcrkiye"},{"name":"Department of Pediatric Endocrinology and Diabetes, Kartal Dr. L\u00fctfi Kirdar City Hospital, Istanbul 34865, T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Volkan","family":"Karaman","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Istanbul Faculty of Medicine, Istanbul University, Istanbul, T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Asuman","family":"Gedikba\u015f\u0131","sequence":"additional","affiliation":[{"name":"Department of Pediatric Basic Sciences, Institute of Child Health, Istanbul University, Istanbul, T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"\u015e\u00fckran","family":"Poyrazo\u011flu","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology and Diabetes, Istanbul Faculty of Medicine, Istanbul University, Istanbul, T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Feyza","family":"Darendeliler","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology and Diabetes, Istanbul Faculty of Medicine, Istanbul University, Istanbul, T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zehra Oya","family":"Uyguner","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Istanbul Faculty of Medicine, Istanbul University, Istanbul, T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Firdevs","family":"Ba\u015f","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology and Diabetes, Istanbul Faculty of Medicine, Istanbul University, Istanbul, T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2026,2,20]]},"reference":[{"key":"e_1_3_4_2_2","doi-asserted-by":"publisher","DOI":"10.1016\/S2213-8587(15)00380-0"},{"key":"e_1_3_4_3_2","doi-asserted-by":"publisher","DOI":"10.1210\/er.2002-0019"},{"key":"e_1_3_4_4_2","doi-asserted-by":"publisher","DOI":"10.1001\/jamanetworkopen.2020.15665"},{"key":"e_1_3_4_5_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2018.12.022"},{"key":"e_1_3_4_6_2","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2010-1025"},{"key":"e_1_3_4_7_2","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2003-030361"},{"key":"e_1_3_4_8_2","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2016-3677"},{"key":"e_1_3_4_9_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1302160"},{"key":"e_1_3_4_10_2","doi-asserted-by":"publisher","DOI":"10.1210\/clinem\/dgaa461"},{"key":"e_1_3_4_11_2","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2014-4462"},{"key":"e_1_3_4_12_2","doi-asserted-by":"publisher","DOI":"10.4274\/jcrpe.2183"},{"key":"e_1_3_4_13_2","doi-asserted-by":"publisher","DOI":"10.1136\/adc.44.235.291"},{"key":"e_1_3_4_14_2","doi-asserted-by":"publisher","DOI":"10.1097\/00000441-195909000-00030"},{"key":"e_1_3_4_15_2","first-page":"33","article-title":"A critical appraisal of the effect of gonadotropin-releasing hormone analog treatment on adult height of girls with central precocious puberty","volume":"9","author":"Bereket A.","year":"2017","unstructured":"Bereket A. A critical appraisal of the effect of gonadotropin-releasing hormone analog treatment on adult height of girls with central precocious puberty. J Clin Res Pediatr Endocrinol 2017; 9(Suppl. 2): 33\u201348.","journal-title":"J Clin Res Pediatr Endocrinol"},{"key":"e_1_3_4_16_2","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkac1072"},{"key":"e_1_3_4_17_2","doi-asserted-by":"publisher","DOI":"10.1186\/s12963-024-00347-9"},{"issue":"4","key":"e_1_3_4_18_2","first-page":"401","article-title":"Molecular analysis of MKRN3 gene in Turkish girls with sporadic and familial idiopathic central precocious puberty","volume":"36","author":"K\u0131rkg\u00f6z T","year":"2023","unstructured":"K\u0131rkg\u00f6z T, Kaygusuz SB, Alavanda C, et al Molecular analysis of MKRN3 gene in Turkish girls with sporadic and familial idiopathic central precocious puberty. 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