{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,13]],"date-time":"2026-08-13T03:58:50Z","timestamp":1786593530398,"version":"build-2736575974"},"reference-count":14,"publisher":"BMJ","issue":"6","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2019,5,20]]},"published-print":{"date-parts":[[2019,6]]},"abstract":"<jats:p>A 7-year-8-month-old boy with cardiofaciocutaneous syndrome caused by the D638E mutation of the B-Raf proto-oncogene (BRAF) presented with new-onset seizures. He was incidentally found to have advanced Tanner staging on physical examination. Hormonal testing revealed pubertal levels of gonadotropins and sex steroid hormones. On brain imaging, a lack of visualisation of the posterior pituitary bright spot was observed, in addition to mild thinning of the corpus callosum and the lateral gyri of the cerebellar hemispheres. A diagnosis of idiopathic central precocious puberty was made and the patient was started on leuprolide depot treatment. Pituitary hormone testing revealed hyperprolactinemia for which the patient did not receive treatment as he was asymptomatic. During a subsequent hospital admission for seizures, the patient was diagnosed with transient central diabetes insipidus for which he required treatment with a desmopressin infusion.<\/jats:p>","DOI":"10.1136\/bcr-2018-229032","type":"journal-article","created":{"date-parts":[[2019,6,19]],"date-time":"2019-06-19T06:45:14Z","timestamp":1560926714000},"page":"e229032","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":3,"title":["Endocrine abnormalities in cardiofaciocutaneous syndrome: a case of precocious puberty, hyperprolactinemia and diabetes insipidus"],"prefix":"10.1136","volume":"12","author":[{"given":"Stephanie","family":"Lenet","sequence":"first","affiliation":[{"name":"Department of Pediatrics, University of Sherbrooke, Sherbrooke, Quebec, Canada"},{"name":"Fleurimont Hospital, Sherbrooke, Quebec, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Constantin","family":"Polychronakos","sequence":"additional","affiliation":[{"name":"McGill University Health Centre, Montreal, Quebec, Canada"},{"name":"Department of Paediatric Endocrinology, Montreal Children\u2019s Hospital, Montreal, Quebec, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2019,6,18]]},"reference":[{"key":"2025082701513807000_12.6.e229032.1","unstructured":"Rauen KA , et al . Cardiofaciocutaneous syndrome. In: Adam MP , Ardinger HH , Pagon RA , GeneReviews\u00ae \u00a0Seattle:, 2007. https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1186\/."},{"key":"2025082701513807000_12.6.e229032.2","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2013-3189"},{"key":"2025082701513807000_12.6.e229032.3","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2006.042796"},{"key":"2025082701513807000_12.6.e229032.4","doi-asserted-by":"publisher","DOI":"10.1016\/j.gde.2009.04.001"},{"key":"2025082701513807000_12.6.e229032.5","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20955"},{"key":"2025082701513807000_12.6.e229032.6","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2010-1692"},{"key":"2025082701513807000_12.6.e229032.7","doi-asserted-by":"publisher","DOI":"10.1007\/s11102-008-0106-6"},{"key":"2025082701513807000_12.6.e229032.8","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320250303"},{"key":"2025082701513807000_12.6.e229032.9","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31315"},{"key":"2025082701513807000_12.6.e229032.10","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2007.054460"},{"key":"2025082701513807000_12.6.e229032.11","doi-asserted-by":"crossref","first-page":"55","DOI":"10.4274\/Jcrpe.1151","article-title":"Cardio-facio-cutaneous syndrome with precocious puberty, growth hormone deficiency and hyperprolactinemia","volume":"6","author":"\u00c7elik","year":"2014","journal-title":"J Clin Res Pediatr Endocrinol"},{"key":"2025082701513807000_12.6.e229032.12","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2016-0182"},{"key":"2025082701513807000_12.6.e229032.13","doi-asserted-by":"crossref","first-page":"164","DOI":"10.4274\/jcrpe.v1i4.3","article-title":"Precocious puberty and normal variant puberty: definition, etiology, diagnosis and current management","volume":"1","author":"Berbero\u011flu","year":"2009","journal-title":"J Clin Res Pediatr Endocrinol"},{"key":"2025082701513807000_12.6.e229032.14","doi-asserted-by":"crossref","first-page":"265","DOI":"10.1016\/S2213-8587(15)00380-0","article-title":"Causes, diagnosis, and treatment of central precocious puberty","volume":"4","author":"Latronico","year":"2016","journal-title":"Lancet Diabetes Endocrinol"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2018-229032","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T08:51:42Z","timestamp":1756284702000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2018-229032"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,6]]},"references-count":14,"journal-issue":{"issue":"6","published-online":{"date-parts":[[2019,6,18]]},"published-print":{"date-parts":[[2019,6]]}},"alternative-id":["10.1136\/bcr-2018-229032"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2018-229032","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,6]]}}}