{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T01:51:56Z","timestamp":1787017916636,"version":"build-2736575974"},"reference-count":19,"publisher":"S. Karger AG","issue":"2","license":[{"start":{"date-parts":[[2016,1,1]],"date-time":"2016-01-01T00:00:00Z","timestamp":1451606400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2016,1,1]],"date-time":"2016-01-01T00:00:00Z","timestamp":1451606400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Horm Res Paediatr"],"published-print":{"date-parts":[[2016]]},"abstract":"<b><i>Background:<\/i><\/b> Loss-of-function mutations in the imprinted gene <i>MKRN3<\/i> represent the most common known genetic defects associated with central precocious puberty (CPP). <b><i>Methods:<\/i><\/b> We report the first case of a girl carrying an <i>MKRN3<\/i> mutation detected in childhood and followed until the development of pubertal signs. <b><i>Results:<\/i><\/b> The girl was screened at the age of 4 years because of a positive family history; her sister had developed CPP at 6 years of age and was found to harbor the <i>MKRN3<\/i> p.Pro161Argfs*16 mutation, inherited from their asymptomatic father. During close follow-up, she initially developed increased growth velocity at 6 years (9 cm\/year), followed by a slightly increased basal luteinizing hormone level (0.4 mIU\/ml) and, ultimately, clinical thelarche with rapid progression (Tanner stage 1-3) between 6.3 and 6.7 years. In the context of a loss-of-function <i>MKRN3<\/i> mutation and a positive family history, these features established the diagnosis of CPP and supported the initiation of treatment with a gonadotropin-releasing hormone analog. The absence of significant bone age advancement, pubic or axillary hair, or behavioral or social problems could be ascribed to the early diagnosis. <b><i>Conclusion:<\/i><\/b> The identification of carriers of <i>MKRN3<\/i> mutations may contribute to early diagnosis of CPP, facilitating treatment decisions and guiding genetic counseling and prompt intervention in familial cases.<\/jats:p>","DOI":"10.1159\/000447515","type":"journal-article","created":{"date-parts":[[2016,7,15]],"date-time":"2016-07-15T17:02:00Z","timestamp":1468602120000},"page":"126-130","source":"Crossref","is-referenced-by-count":18,"title":["Time Course of Central Precocious Puberty Development Caused by an <b><i>MKRN3<\/i><\/b> Gene Mutation: A Prismatic Case"],"prefix":"10.1159","volume":"86","author":[{"given":"Monica F.","family":"Stecchini","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Delanie B.","family":"Macedo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana Claudia S.","family":"Reis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana Paula","family":"Abreu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ayrton C.","family":"Moreira","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Margaret","family":"Castro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ursula B.","family":"Kaiser","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana Claudia","family":"Latronico","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sonir R.","family":"Antonini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"127","published-online":{"date-parts":[[2016,7,16]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1038\/nrendo.2014.40"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1590\/0004-2730000002931"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2009-2421"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa073443"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1302160"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2013-3126"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2013-4084"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1159\/000362815"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1093\/humrep\/deu256"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1111\/cen.12854"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1038\/pr.2015.159"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1530\/EJE-15-0488"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1186\/s12902-015-0056-8"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1016\/j.steroids.2014.08.009"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1136\/archdischild-2013-304414"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2014-2702"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1111\/cen.12319"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1016\/j.jadohealth.2012.12.018"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1038\/nrendo.2015.72"}],"container-title":["Hormone Research in Paediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/447515","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/447515","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/447515","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T12:53:56Z","timestamp":1745412836000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000447515"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016]]},"references-count":19,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2016,10,12]]}},"URL":"https:\/\/doi.org\/10.1159\/000447515","archive":["Portico"],"relation":{},"ISSN":["1663-2818","1663-2826"],"issn-type":[{"value":"1663-2818","type":"print"},{"value":"1663-2826","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016]]}}}