{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T10:01:15Z","timestamp":1790848875149,"version":"4.1.0"},"reference-count":30,"publisher":"Elsevier BV","issue":"3","license":[{"start":{"date-parts":[[2011,3,1]],"date-time":"2011-03-01T00:00:00Z","timestamp":1298937600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2011,3,1]],"date-time":"2011-03-01T00:00:00Z","timestamp":1298937600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2011,3,1]],"date-time":"2011-03-01T00:00:00Z","timestamp":1298937600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2011,3,1]],"date-time":"2011-03-01T00:00:00Z","timestamp":1298937600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2011,3,1]],"date-time":"2011-03-01T00:00:00Z","timestamp":1298937600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2011,3,1]],"date-time":"2011-03-01T00:00:00Z","timestamp":1298937600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2011,3,1]],"date-time":"2011-03-01T00:00:00Z","timestamp":1298937600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","jpeds.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["The Journal of Pediatrics"],"published-print":{"date-parts":[[2011,3]]},"DOI":"10.1016\/j.jpeds.2010.08.032","type":"journal-article","created":{"date-parts":[[2010,10,4]],"date-time":"2010-10-04T04:28:43Z","timestamp":1286166523000},"page":"474-479","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":43,"title":["Anosmia Predicts Hypogonadotropic Hypogonadism in CHARGE Syndrome"],"prefix":"10.1016","volume":"158","author":[{"given":"Jorieke E.H.","family":"Bergman","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gianni","family":"Bocca","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lies H.","family":"Hoefsloot","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Linda C.","family":"Meiners","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Conny M.A.","family":"van Ravenswaaij-Arts","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.jpeds.2010.08.032_bib1","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1177\/000992289803700302","article-title":"CHARGE association: an update and review for the primary pediatrician","volume":"37","author":"Blake","year":"1998","journal-title":"Clin Pediatr (Phila)"},{"key":"10.1016\/j.jpeds.2010.08.032_bib2","doi-asserted-by":"crossref","first-page":"389","DOI":"10.1038\/sj.ejhg.5201778","article-title":"CHARGE syndrome: an update","volume":"15","author":"Sanlaville","year":"2007","journal-title":"Eur J Hum Genet"},{"key":"10.1016\/j.jpeds.2010.08.032_bib3","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1016\/S0022-3476(81)80454-4","article-title":"Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association","volume":"99","author":"Pagon","year":"1981","journal-title":"J Pediatr"},{"key":"10.1016\/j.jpeds.2010.08.032_bib4","doi-asserted-by":"crossref","first-page":"211","DOI":"10.1136\/jmg.2005.036160","article-title":"Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development","volume":"43","author":"Sanlaville","year":"2006","journal-title":"J Med Genet"},{"key":"10.1016\/j.jpeds.2010.08.032_bib5","doi-asserted-by":"crossref","first-page":"306","DOI":"10.1002\/ajmg.a.30559","article-title":"Updated diagnostic criteria for CHARGE syndrome: a proposal","volume":"133","author":"Verloes","year":"2005","journal-title":"Am J Med Genet A"},{"key":"10.1016\/j.jpeds.2010.08.032_bib6","doi-asserted-by":"crossref","first-page":"955","DOI":"10.1038\/ng1407","article-title":"Mutations in a new member of the chromodomain gene family cause CHARGE syndrome","volume":"36","author":"Vissers","year":"2004","journal-title":"Nat Genet"},{"key":"10.1016\/j.jpeds.2010.08.032_bib7","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1002\/ajmg.a.31921","article-title":"Familial CHARGE syndrome and the CHD7 gene: a recurrent missense mutation, intrafamilial recurrence and variability","volume":"146","author":"Jongmans","year":"2008","journal-title":"Am J Med Genet A"},{"key":"10.1016\/j.jpeds.2010.08.032_bib8","doi-asserted-by":"crossref","first-page":"920","DOI":"10.1210\/jc.2007-1419","article-title":"Endocrine and radiological studies in patients with molecularly confirmed CHARGE syndrome","volume":"93","author":"Asakura","year":"2008","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1016\/j.jpeds.2010.08.032_bib9","doi-asserted-by":"crossref","first-page":"e81","DOI":"10.1542\/peds.2004-1970","article-title":"Olfactory evaluation in children: application to the CHARGE syndrome","volume":"116","author":"Chalouhi","year":"2005","journal-title":"Pediatrics"},{"key":"10.1016\/j.jpeds.2010.08.032_bib10","doi-asserted-by":"crossref","first-page":"5621","DOI":"10.1210\/jc.2004-2474","article-title":"CHARGE syndrome includes hypogonadotropic hypogonadism and abnormal olfactory bulb development","volume":"90","author":"Pinto","year":"2005","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1016\/j.jpeds.2010.08.032_bib11","doi-asserted-by":"crossref","first-page":"1909","DOI":"10.1093\/hmg\/ddp112","article-title":"Defects in neural stem cell proliferation and olfaction in Chd7 deficient mice indicate a mechanism for hyposmia in human CHARGE syndrome","volume":"18","author":"Layman","year":"2009","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.jpeds.2010.08.032_bib12","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1177\/000992280504400207","article-title":"Adolescent and adult issues in CHARGE syndrome","volume":"44","author":"Blake","year":"2005","journal-title":"Clin Pediatr (Phila)"},{"key":"10.1016\/j.jpeds.2010.08.032_bib13","doi-asserted-by":"crossref","first-page":"839","DOI":"10.1002\/ajmg.a.31670","article-title":"Risk factors for poor bone health in adolescents and adults with CHARGE syndrome","volume":"143","author":"Forward","year":"2007","journal-title":"Am J Med Genet A"},{"key":"10.1016\/j.jpeds.2010.08.032_bib14","doi-asserted-by":"crossref","first-page":"228","DOI":"10.1002\/1096-8628(20000918)94:3<228::AID-AJMG8>3.0.CO;2-H","article-title":"Hypogonadism and CHARGE association","volume":"94","author":"Wheeler","year":"2000","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.jpeds.2010.08.032_bib15","doi-asserted-by":"crossref","first-page":"306","DOI":"10.1136\/jmg.2005.036061","article-title":"CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene","volume":"43","author":"Jongmans","year":"2006","journal-title":"J Med Genet"},{"key":"10.1016\/j.jpeds.2010.08.032_bib16","doi-asserted-by":"crossref","first-page":"2512","DOI":"10.1007\/s00018-005-5604-3","article-title":"Kallmann\u2019s syndrome, a neuronal migration defect","volume":"63","author":"Cariboni","year":"2006","journal-title":"Cell Mol Life Sci"},{"key":"10.1016\/j.jpeds.2010.08.032_bib17","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1038\/ejhg.2009.158","article-title":"Study of smell and reproductive organs in a mouse model for CHARGE syndrome","volume":"1","author":"Bergman","year":"2010","journal-title":"Eur J Hum Genet"},{"key":"10.1016\/j.jpeds.2010.08.032_bib18","first-page":"511","article-title":"[Micropenis in children: etiology, diagnosis and therapy]","volume":"141","author":"Massa","year":"1997","journal-title":"Ned Tijdschr Geneeskd"},{"key":"10.1016\/j.jpeds.2010.08.032_bib19","doi-asserted-by":"crossref","first-page":"417","DOI":"10.1016\/j.ejmg.2008.03.003","article-title":"Exon copy number alterations of the CHD7 gene are not a major cause of CHARGE and CHARGE-like syndrome","volume":"51","author":"Bergman","year":"2008","journal-title":"Eur J Med Genet"},{"key":"10.1016\/j.jpeds.2010.08.032_bib20","doi-asserted-by":"crossref","first-page":"489","DOI":"10.1016\/0031-9384(84)90269-5","article-title":"Development of the University of Pennsylvania Smell Identification Test: a standardized microencapsulated test of olfactory function","volume":"32","author":"Doty","year":"1984","journal-title":"Physiol Behav"},{"key":"10.1016\/j.jpeds.2010.08.032_bib21","doi-asserted-by":"crossref","first-page":"741","DOI":"10.1507\/endocrj.K06-099","article-title":"Kallmann syndrome phenotype in a female patient with CHARGE syndrome and CHD7 mutation","volume":"53","author":"Ogata","year":"2006","journal-title":"Endocr J"},{"key":"10.1016\/j.jpeds.2010.08.032_bib22","doi-asserted-by":"crossref","first-page":"590","DOI":"10.1101\/gr.086983.108","article-title":"Genomic distribution of CHD7 on chromatin tracks H3K4 methylation patterns","volume":"19","author":"Schnetz","year":"2009","journal-title":"Genome Res"},{"key":"10.1016\/j.jpeds.2010.08.032_bib23","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1111\/j.1399-0004.2008.01107.x","article-title":"CHD7 mutations in patients initially diagnosed with Kallmann syndrome -the clinical overlap with CHARGE syndrome","volume":"75","author":"Jongmans","year":"2009","journal-title":"Clin Genet"},{"key":"10.1016\/j.jpeds.2010.08.032_bib24","doi-asserted-by":"crossref","first-page":"511","DOI":"10.1016\/j.ajhg.2008.09.005","article-title":"Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome","volume":"83","author":"Kim","year":"2008","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.jpeds.2010.08.032_bib25","doi-asserted-by":"crossref","first-page":"112","DOI":"10.1111\/j.1399-0004.2007.00821.x","article-title":"Familial CHARGE syndrome because of CHD7 mutation: clinical intra- and interfamilial variability","volume":"72","author":"Delahaye","year":"2007","journal-title":"Clin Genet"},{"key":"10.1016\/j.jpeds.2010.08.032_bib26","doi-asserted-by":"crossref","first-page":"439","DOI":"10.2214\/ajr.166.2.8553963","article-title":"MR evaluation of patients with congenital hyposmia or anosmia","volume":"166","author":"Yousem","year":"1996","journal-title":"Am J Roentgenol"},{"key":"10.1016\/j.jpeds.2010.08.032_bib27","series-title":"Williams textbook of endocrinology","first-page":"1115","article-title":"Puberty: ontogeny, neuroendocrinology, physiology, and disorders","author":"Grumbach","year":"2003"},{"key":"10.1016\/j.jpeds.2010.08.032_bib28","doi-asserted-by":"crossref","first-page":"477","DOI":"10.2164\/jandrol.108.007245","article-title":"The dark side of testosterone deficiency: III. Cardiovascular disease","volume":"30","author":"Traish","year":"2009","journal-title":"J Androl"},{"key":"10.1016\/j.jpeds.2010.08.032_bib29","first-page":"926","article-title":"Self-concept and behavior in adolescent girls with Turner syndrome: potential estrogen effects","volume":"81","author":"Ross","year":"1996","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1016\/j.jpeds.2010.08.032_bib30","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1111\/j.1365-2265.1995.tb01899.x","article-title":"Investigation of delayed puberty","volume":"43","author":"Albanese","year":"1995","journal-title":"Clin Endocrinol (Oxf)"}],"container-title":["The Journal of Pediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022347610007249?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022347610007249?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,20]],"date-time":"2025-09-20T08:52:41Z","timestamp":1758358361000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0022347610007249"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,3]]},"references-count":30,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2011,3]]}},"alternative-id":["S0022347610007249"],"URL":"https:\/\/doi.org\/10.1016\/j.jpeds.2010.08.032","relation":{},"ISSN":["0022-3476"],"issn-type":[{"value":"0022-3476","type":"print"}],"subject":[],"published":{"date-parts":[[2011,3]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Anosmia Predicts Hypogonadotropic Hypogonadism in CHARGE Syndrome","name":"articletitle","label":"Article Title"},{"value":"The Journal of Pediatrics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jpeds.2010.08.032","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2011 Mosby, Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}